Raras
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Carcinoma de células renais
ORPHA:217071CID-10 · C64CID-11 · 2C90.0DOENÇA RARA

Carcinoma que surge das células epiteliais glandulares do rim

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Carcinoma que surge das células epiteliais glandulares do rim

Pesquisas ativas
29 ensaios
2477 total registrados no ClinicalTrials.gov
Publicações científicas
53.101 artigos
Último publicado: 2026

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
42.0
Europe
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: C64
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

👁️
Olhos
12 sintomas
🫘
Rins
4 sintomas
📏
Crescimento
3 sintomas
🧠
Neurológico
2 sintomas
🫁
Pulmão
1 sintomas
💪
Músculos
1 sintomas

+ 24 sintomas em outras categorias

Características mais comuns

Acuidade visual reduzida
Catarata
Aumento do nível urinário de cortisol
Aumento do estradiol sérico
Nistagmo congênito
Palpitações
49sintomas
Sem dados (49)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 49 características clínicas mais associadas, ordenadas por frequência.

Acuidade visual reduzidaReduced visual acuity
CatarataCataract
Aumento do nível urinário de cortisolIncreased urinary cortisol level
Aumento do estradiol séricoIncreased serum estradiol
Nistagmo congênitoCongenital nystagmus

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico53.101PubMed
Últimos 10 anos200publicações
Pico2026199 papers
Linha do tempo
2026Hoje · 2026🧪 1990Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

30 genes identificados com associação a esta condição. Padrão de herança: Not applicable.

TERTTelomerase reverse transcriptaseCandidate gene tested inRestrito
FUNÇÃO

Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-de

LOCALIZAÇÃO

Nucleus, nucleolusNucleus, nucleoplasmNucleusChromosome, telomereCytoplasmNucleus, PML body

VIAS BIOLÓGICAS (3)
Telomere Extension By TelomeraseFormation of the beta-catenin:TCF transactivating complexRegulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence
EXPRESSÃO TECIDUAL(Baixa expressão)
Testículo
2.7 TPM
Intestino delgado
0.7 TPM
Brain Caudate basal ganglia
0.6 TPM
Cólon transverso
0.5 TPM
Brain Nucleus accumbens basal ganglia
0.5 TPM
OUTRAS DOENÇAS (13)
dyskeratosis congenita, autosomal dominant 2pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1adrenal cortex carcinomaclear cell sarcoma of kidney
HGNC:11730UniProt:O14746
CLTCClathrin heavy chain 1Candidate gene tested inAltamente restrito
FUNÇÃO

Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as a component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737, PubMed:21297582). The TACC3/ch-TOG/clathrin complex is required for the main

LOCALIZAÇÃO

Cytoplasmic vesicle membraneMembrane, coated pitMelanosomeCytoplasm, cytoskeleton, spindle

VIAS BIOLÓGICAS (10)
Gap junction degradationFormation of annular gap junctionsEPH-ephrin mediated repulsion of cellsEntry of Influenza Virion into Host Cell via EndocytosisRetrograde neurotrophin signalling
MECANISMO DE DOENÇA

Intellectual developmental disorder, autosomal dominant 56

A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

OUTRAS DOENÇAS (5)
intellectual disability, autosomal dominant 56inflammatory myofibroblastic tumorMIT family translocation renal cell carcinomaundetermined early-onset epileptic encephalopathy
HGNC:2092UniProt:Q00610
HNF1AHepatocyte nuclear factor 1-alphaDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:10966642, PubMed:12453420). Activates the transcription of CYP1A2, CYP2E1 and CYP3A11 (By similarity) (Microbial infection) Plays a crucial role for hepatitis B virus gene transcription and DNA replication. Mechanistically, synergistically cooperates with NR5A2 to up-regulate the

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Regulation of gene expression in beta cells
MECANISMO DE DOENÇA

Hepatic adenomas familial

Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3).

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
8.7 TPM
Intestino delgado
6.3 TPM
Rim - Córtex
5.3 TPM
Cólon transverso
4.3 TPM
Estômago
4.1 TPM
OUTRAS DOENÇAS (11)
maturity-onset diabetes of the young type 3nonpapillary renal cell carcinomahepatic adenomas, familialtype 1 diabetes mellitus 20
HGNC:11621UniProt:P20823
OGG1N-glycosylase/DNA lyaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N-methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta-lyase activity that nicks DNA 3' to the lesion

LOCALIZAÇÃO

Nucleus, nucleoplasmNucleus speckleNucleus matrixNucleusMitochondrion

VIAS BIOLÓGICAS (6)
Cleavage of the damaged purineRecognition and association of DNA glycosylase with site containing an affected purineCleavage of the damaged pyrimidine APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement PathwayDisplacement of DNA glycosylase by APEX1
MECANISMO DE DOENÇA

Renal cell carcinoma

Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype.

EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
23.6 TPM
Útero
23.3 TPM
Cervix Endocervix
22.6 TPM
Cervix Ectocervix
21.7 TPM
Nervo tibial
19.6 TPM
OUTRAS DOENÇAS (2)
nonpapillary renal cell carcinomahereditary clear cell renal cell carcinoma
HGNC:8125UniProt:O15527
CTNNB1Catenin beta-1Candidate gene tested inAltamente restrito
FUNÇÃO

Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:189574

LOCALIZAÇÃO

CytoplasmNucleusCytoplasm, cytoskeletonCell junction, adherens junctionCell junctionCell membraneCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindle poleSynapseCytoplasm, cytoskeleton, cilium basal body

VIAS BIOLÓGICAS (10)
Formation of the nephric ductSpecification of the neural plate borderSynthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)TCF dependent signaling in response to WNTTranscriptional Regulation by VENTX
MECANISMO DE DOENÇA

Colorectal cancer

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Endocervix
297.5 TPM
Cervix Ectocervix
257.8 TPM
Artéria tibial
233.5 TPM
Ovário
201.9 TPM
Cérebro - Hemisfério cerebelar
201.3 TPM
OUTRAS DOENÇAS (17)
hepatocellular carcinomasevere intellectual disability-progressive spastic diplegia syndromeovarian cancerpilomatrixoma
HGNC:2514UniProt:P35222
DIRC3Candidate gene tested inDesconhecido
LOCALIZAÇÃO

OUTRAS DOENÇAS (2)
differentiated thyroid carcinomahereditary clear cell renal cell carcinoma
HGNC:17805
VHLvon Hippel-Lindau disease tumor suppressorDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex (PubMed:10944113, PubMed:17981124, PubMed:19584355). Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions (PubMed:10944113, PubMed:17981124). Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases (PubMed:10944113, PubMed:1

LOCALIZAÇÃO

CytoplasmCell membraneEndoplasmic reticulumNucleus

VIAS BIOLÓGICAS (6)
Antigen processing: Ubiquitination & Proteasome degradationOxygen-dependent proline hydroxylation of Hypoxia-inducible Factor AlphaNeddylationReplication of the SARS-CoV-1 genomeReplication of the SARS-CoV-2 genome
MECANISMO DE DOENÇA

Pheochromocytoma

A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
47.6 TPM
Fibroblastos
30.1 TPM
Cérebro - Hemisfério cerebelar
29.8 TPM
Baço
24.1 TPM
Cervix Endocervix
22.7 TPM
OUTRAS DOENÇAS (6)
pheochromocytomavon Hippel-Lindau diseasenonpapillary renal cell carcinomaChuvash polycythemia
HGNC:12687UniProt:P40337
FHITBis(5'-adenosyl)-triphosphataseCandidate gene tested inTolerante
FUNÇÃO

Possesses dinucleoside triphosphate hydrolase activity (PubMed:12574506, PubMed:15182206, PubMed:8794732, PubMed:9323207, PubMed:9543008, PubMed:9576908). Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP (PubMed:12574506, PubMed:15182206, PubMed:8794732, PubMed:9323207, PubMed:9543008, PubMed:9576908). Can also hydrolyze P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP (PubMed:8794732). Exhibits adenylylsulfatase activity, hydro

LOCALIZAÇÃO

CytoplasmMitochondrionNucleus

EXPRESSÃO TECIDUAL(Ubíquo)
Glândula adrenal
7.7 TPM
Tireoide
7.4 TPM
Rim - Medula
6.1 TPM
Brain Spinal cord cervical c-1
5.5 TPM
Rim - Córtex
5.0 TPM
OUTRAS DOENÇAS (1)
hereditary clear cell renal cell carcinoma
HGNC:3701UniProt:P49789
SLC49A4Solute carrier family 49 member 4Candidate gene tested inTolerante
FUNÇÃO

Mediates H(+)-dependent pyridoxine transport

LOCALIZAÇÃO

Lysosome membrane

INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (1)
hereditary clear cell renal cell carcinoma
HGNC:16628UniProt:Q96SL1
ELP4Elongator complex protein 4Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29332244). The elongator complex catalyzes the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244)

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (1)
HATs acetylate histones
MECANISMO DE DOENÇA

Aniridia 2

A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Baixa expressão)
Cérebro - Hemisfério cerebelar
4.8 TPM
Cerebelo
4.1 TPM
Linfócitos
2.8 TPM
Nervo tibial
2.4 TPM
Artéria tibial
2.3 TPM
OUTRAS DOENÇAS (1)
aniridia 2
HGNC:HGNC:1171UniProt:Q96EB1
PRKAR1AcAMP-dependent protein kinase type I-alpha regulatory subunitCandidate gene tested inAltamente restrito
FUNÇÃO

Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (10)
PKA activationGPER1 signalingCREB1 phosphorylation through the activation of Adenylate CyclaseDARPP-32 eventsHigh laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
MECANISMO DE DOENÇA

Carney complex 1

CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas.

EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
152.7 TPM
Ovário
151.5 TPM
Aorta
138.6 TPM
Útero
138.3 TPM
Tecido adiposo
129.4 TPM
OUTRAS DOENÇAS (9)
familial atrial myxomapigmented nodular adrenocortical disease, primary, 1Acrodysostosis 1 with or without hormone resistanceCarney complex, type 1
HGNC:9388UniProt:P10644
FLCNFolliculinDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Multi-functional protein, involved in both the cellular response to amino acid availability and in the regulation of glycolysis (PubMed:17028174, PubMed:18663353, PubMed:21209915, PubMed:24081491, PubMed:24095279, PubMed:31672913, PubMed:31704029, PubMed:32612235, PubMed:34381247, PubMed:36103527, PubMed:37079666). GTPase-activating protein that plays a key role in the cellular response to amino acid availability through regulation of the non-canonical mTORC1 signaling cascade controlling the Mi

LOCALIZAÇÃO

Lysosome membraneCytoplasm, cytosolCell projection, ciliumCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindleNucleus

VIAS BIOLÓGICAS (1)
Amino acids regulate mTORC1
MECANISMO DE DOENÇA

Birt-Hogg-Dube syndrome 1

A form of Birt-Hogg-Dube syndrome, a rare genodermatosis usually manifesting in adulthood and characterized by multiple fibrofolliculomas, trichodiscomas, and acrochordons. Patients with this syndrome have an increased susceptibility to develop renal cell carcinoma, lung cysts, and spontaneous pneumothorax. Inheritance is autosomal dominant.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
123.5 TPM
Cervix Ectocervix
117.5 TPM
Cérebro - Hemisfério cerebelar
109.7 TPM
Cervix Endocervix
83.8 TPM
Cólon sigmoide
69.3 TPM
OUTRAS DOENÇAS (5)
nonpapillary renal cell carcinomacolorectal cancerBirt-Hogg-Dube syndrome 1familial spontaneous pneumothorax
HGNC:27310UniProt:Q8NFG4
PBRM1Protein polybromo-1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (3)
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not knownRMTs methylate histone argininesFormation of the polybromo-BAF (pBAF) complex
MECANISMO DE DOENÇA

Renal cell carcinoma

Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype.

EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
28.1 TPM
Útero
27.0 TPM
Fibroblastos
26.9 TPM
Artéria tibial
26.8 TPM
Nervo tibial
25.1 TPM
OUTRAS DOENÇAS (2)
nonpapillary renal cell carcinomaclear cell papillary renal cell carcinoma
HGNC:30064UniProt:Q86U86
MITFMicrophthalmia-associated transcription factorCandidate gene tested inAltamente restrito
FUNÇÃO

Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Involved in the cellular response to amino acid availability by acting down

LOCALIZAÇÃO

NucleusCytoplasmLysosome membrane

VIAS BIOLÓGICAS (2)
Transcriptional and post-translational regulation of MITF-M expression and activitySUMOylation of transcription factors
MECANISMO DE DOENÇA

Waardenburg syndrome 2A

WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1.

EXPRESSÃO TECIDUAL(Ubíquo)
Cervix Ectocervix
70.8 TPM
Cervix Endocervix
58.0 TPM
Útero
57.6 TPM
Músculo esquelético
25.9 TPM
Esôfago - Muscular
24.4 TPM
OUTRAS DOENÇAS (9)
Waardenburg syndrome type 2ATietz syndromecoloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafnesspapillary renal cell carcinoma
HGNC:7105UniProt:O75030
HNF1BHepatocyte nuclear factor 1-betaCandidate gene tested inAltamente restrito
FUNÇÃO

Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:17924661, PubMed:7900999). Binds to the FPC element in the cAMP regulatory unit of the PLAU gene (By similarity). Transcriptional activity is increased by coactivator PCBD1 (PubMed:24204001)

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (6)
Nephron developmentRegulation of gene expression in early pancreatic precursor cellsRegulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cellsDevelopmental Lineage of Multipotent Pancreatic Progenitor CellsDevelopmental Lineage of Pancreatic Ductal Cells
MECANISMO DE DOENÇA

Renal cysts and diabetes syndrome

An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.

EXPRESSÃO TECIDUAL(Tecido-específico)
Rim - Medula
90.4 TPM
Rim - Córtex
53.5 TPM
Linfócitos
43.7 TPM
Pâncreas
23.0 TPM
Cólon transverso
14.9 TPM
OUTRAS DOENÇAS (11)
type 2 diabetes mellitusrenal cysts and diabetes syndromechromosome 17q12 deletion syndromerenal dysplasia, unilateral
HGNC:11630UniProt:P35680
CDKN2ACyclin-dependent kinase inhibitor 2ACandidate gene tested inRestrito
FUNÇÃO

Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (8)
Regulation of TP53 DegradationOncogene Induced SenescenceOxidative Stress Induced SenescenceStabilization of p53Regulation of RUNX3 expression and activity
OUTRAS DOENÇAS (10)
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)familial melanomaLi-Fraumeni syndromefamilial atypical multiple mole melanoma syndrome
HGNC:1787UniProt:P42771
ASPSCR1Tether containing UBX domain for GLUT4Candidate gene tested inTolerante
FUNÇÃO

Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT

LOCALIZAÇÃO

Endomembrane systemEndoplasmic reticulum-Golgi intermediate compartment membraneCytoplasmNucleus

VIAS BIOLÓGICAS (1)
Translocation of SLC2A4 (GLUT4) to the plasma membrane
OUTRAS DOENÇAS (2)
alveolar soft part sarcomaMIT family translocation renal cell carcinoma
HGNC:13825UniProt:Q9BZE9
HSPBAP1HSPB1-associated protein 1Candidate gene tested inTolerante
FUNÇÃO

May play a role in cellular stress response

LOCALIZAÇÃO

Cytoplasm

EXPRESSÃO TECIDUAL(Ubíquo)
Baço
16.6 TPM
Tireoide
11.4 TPM
Testículo
10.5 TPM
Sangue
10.2 TPM
Cervix Endocervix
9.8 TPM
OUTRAS DOENÇAS (1)
hereditary clear cell renal cell carcinoma
HGNC:16389UniProt:Q96EW2
PAX6Paired box protein Pax-6Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Acts as a transcriptional repressor of NFATC1-mediated gene expression (By s

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (5)
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)Regulation of gene expression in beta cellsActivation of anterior HOX genes in hindbrain development during early embryogenesisFormation of the anterior neural plateSynthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
MECANISMO DE DOENÇA

Aniridia 1

A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.

EXPRESSÃO TECIDUAL(Tecido-específico)
Cérebro - Hemisfério cerebelar
40.8 TPM
Cerebelo
36.9 TPM
Córtex cerebral
3.5 TPM
Brain Caudate basal ganglia
3.4 TPM
Brain Anterior cingulate cortex BA24
3.3 TPM
OUTRAS DOENÇAS (17)
coloboma, ocular, autosomal dominantisolated optic nerve hypoplasiaautosomal dominant keratitisfoveal hypoplasia 1
HGNC:8620UniProt:P26367
ZNRF3E3 ubiquitin-protein ligase ZNRF3Candidate gene tested inAltamente restrito
FUNÇÃO

E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination and subsequent degradation of Wnt receptor complex components Frizzled and LRP6. Acts on both canonical and non-canonical Wnt signaling pathway. Acts as a tumor suppressor in the intestinal stem cell zone by inhibiting the Wnt signaling pathway, thereby restricting the size of the intestinal stem cell zone (PubMed:22575959). Along with RSPO2 and RNF43, constitutes a master s

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (1)
Regulation of FZD by ubiquitination
EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
15.1 TPM
Cerebelo
15.1 TPM
Aorta
13.1 TPM
Artéria tibial
12.4 TPM
Córtex cerebral
11.3 TPM
OUTRAS DOENÇAS (1)
adrenal cortex carcinoma
HGNC:18126UniProt:Q9ULT6
NONONon-POU domain-containing octamer-binding proteinCandidate gene tested inAltamente restrito
FUNÇÃO

DNA- and RNA binding protein, involved in several nuclear processes (PubMed:11525732, PubMed:12403470, PubMed:26571461). Binds the conventional octamer sequence in double-stranded DNA (PubMed:11525732, PubMed:12403470, PubMed:26571461). Also binds single-stranded DNA and RNA at a site independent of the duplex site (PubMed:11525732, PubMed:12403470, PubMed:26571461). Involved in pre-mRNA splicing, probably as a heterodimer with SFPQ (PubMed:11525732, PubMed:12403470, PubMed:26571461). Interacts

LOCALIZAÇÃO

NucleusNucleus, nucleolusNucleus speckleChromosome

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
238.9 TPM
Ovário
222.1 TPM
Fibroblastos
181.7 TPM
Útero
171.6 TPM
Cervix Endocervix
164.9 TPM
OUTRAS DOENÇAS (2)
syndromic X-linked intellectual disability 34MIT family translocation renal cell carcinoma
HGNC:7871UniProt:Q15233
SFPQSplicing factor, proline- and glutamine-richCandidate gene tested inAltamente restrito
FUNÇÃO

DNA- and RNA binding protein, involved in several nuclear processes. Essential pre-mRNA splicing factor required early in spliceosome formation and for splicing catalytic step II, probably as a heteromer with NONO. Binds to pre-mRNA in spliceosome C complex, and specifically binds to intronic polypyrimidine tracts. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45, a phosphorylated form is sequestered by THRAP3 from the pre-mRNA in resting T-cells; T-ce

LOCALIZAÇÃO

Nucleus speckleNucleus matrixCytoplasm

VIAS BIOLÓGICAS (1)
PTK6 Regulates Proteins Involved in RNA Processing
EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
224.7 TPM
Nervo tibial
185.7 TPM
Cérebro - Hemisfério cerebelar
181.1 TPM
Linfócitos
173.0 TPM
Útero
167.4 TPM
OUTRAS DOENÇAS (1)
MIT family translocation renal cell carcinoma
HGNC:10774UniProt:P23246
TFEBTranscription factor EBCandidate gene tested inAltamente restrito
FUNÇÃO

Transcription factor that acts as a master regulator of lysosomal biogenesis, autophagy, lysosomal exocytosis, lipid catabolism, energy metabolism and immune response (PubMed:21617040, PubMed:22343943, PubMed:22576015, PubMed:22692423, PubMed:25720963, PubMed:30120233, PubMed:31672913, PubMed:32612235, PubMed:32753672, PubMed:35662396, PubMed:36697823, PubMed:36749723, PubMed:37079666). Specifically recognizes and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerization

LOCALIZAÇÃO

NucleusCytoplasm, cytosolLysosome membrane

VIAS BIOLÓGICAS (2)
Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genesTranscriptional and post-translational regulation of MITF-M expression and activity
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
58.4 TPM
Sangue
36.1 TPM
Baço
34.6 TPM
Brain Spinal cord cervical c-1
26.0 TPM
Músculo esquelético
25.8 TPM
OUTRAS DOENÇAS (1)
MIT family translocation renal cell carcinoma
HGNC:11753UniProt:P19484
TP53Cellular tumor antigen p53Candidate gene tested inAltamente restrito
FUNÇÃO

Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:35618207, PubMed:36634798, PubMed:38653238, PubMed:9840937). Acts as a tumor suppressor in many tumor types; induces growth arrest or apop

LOCALIZAÇÃO

CytoplasmNucleusNucleus, PML bodyEndoplasmic reticulumMitochondrion matrixCytoplasm, cytoskeleton, microtubule organizing center, centrosome

VIAS BIOLÓGICAS (10)
TP53 Regulates Metabolic GenesRegulation of TP53 ExpressionRegulation of TP53 DegradationOncogene Induced SenescenceOxidative Stress Induced Senescence
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
73.0 TPM
Skin Sun Exposed Lower leg
37.0 TPM
Skin Not Sun Exposed Suprapubic
35.2 TPM
Fibroblastos
32.9 TPM
Ovário
32.4 TPM
OUTRAS DOENÇAS (29)
Li-Fraumeni syndromenasopharyngeal carcinoma, susceptibility to, 1hepatocellular carcinomafamilial pancreatic carcinoma
HGNC:11998UniProt:P04637
PRCCProline-rich protein PRCCDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

May regulate cell cycle progression through interaction with MAD2L2

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (2)
mRNA Splicing - Major PathwayDengue Virus-Host Interactions
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
73.8 TPM
Cérebro - Hemisfério cerebelar
72.8 TPM
Útero
72.8 TPM
Cerebelo
71.1 TPM
Cervix Endocervix
70.9 TPM
OUTRAS DOENÇAS (2)
hereditary papillary renal cell carcinomaMIT family translocation renal cell carcinoma
HGNC:9343UniProt:Q92733
METHepatocyte growth factor receptorDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including proliferation, scattering, morphogenesis and survival. Ligand binding at the cell surface induces autophosphorylation of MET on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with the PI3-kinase subunit PIK3R1, PLCG1,

LOCALIZAÇÃO

MembraneSecreted

VIAS BIOLÓGICAS (7)
MET Receptor ActivationDrug-mediated inhibition of MET activationSema4D mediated inhibition of cell attachment and migrationNegative regulation of MET activityMECP2 regulates neuronal receptors and channels
EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
21.3 TPM
Fibroblastos
18.5 TPM
Tireoide
16.7 TPM
Adipose Visceral Omentum
16.2 TPM
Mama
15.4 TPM
OUTRAS DOENÇAS (8)
hepatocellular carcinomahereditary papillary renal cell carcinomaarthrogryposis, distal, IIa 11autosomal recessive nonsyndromic hearing loss 97
HGNC:7029UniProt:P08581
TRIM44Tripartite motif-containing protein 44Disease-causing germline mutation(s) inRestrito
FUNÇÃO

May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression (PubMed:26394807)

LOCALIZAÇÃO

MECANISMO DE DOENÇA

Aniridia 3

A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
53.8 TPM
Cerebelo
52.3 TPM
Fibroblastos
33.5 TPM
Linfócitos
32.5 TPM
Nervo tibial
30.5 TPM
INTERAÇÕES PROTEICAS (5)
OUTRAS DOENÇAS (2)
aniridia 3isolated aniridia
HGNC:19016UniProt:Q96DX7
RNF139E3 ubiquitin-protein ligase RNF139Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

E3-ubiquitin ligase; acts as a negative regulator of cell proliferation through mechanisms involving G2/M arrest and cell death (PubMed:10500182, PubMed:12032852, PubMed:17016439). Required for MHC class I ubiquitination in cells expressing the cytomegalovirus protein US2 before dislocation from the endoplasmic reticulum (ER) (PubMed:19720873). Affects SREBP processing by hindering the SREBP-SCAP complex translocation from the ER to the Golgi, thereby reducing SREBF2 target gene expression (PubM

LOCALIZAÇÃO

Endoplasmic reticulum membrane

VIAS BIOLÓGICAS (1)
ER Quality Control Compartment (ERQC)
MECANISMO DE DOENÇA

Renal cell carcinoma

Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
111.7 TPM
Fibroblastos
43.0 TPM
Fallopian Tube
42.1 TPM
Ovário
40.0 TPM
Útero
37.8 TPM
OUTRAS DOENÇAS (2)
nonpapillary renal cell carcinomahereditary clear cell renal cell carcinoma
HGNC:17023UniProt:Q8WU17
TFE3Transcription factor E3Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcription factor that acts as a master regulator of lysosomal biogenesis and immune response (PubMed:2338243, PubMed:24448649, PubMed:29146937, PubMed:30733432, PubMed:31672913, PubMed:37079666). Specifically recognizes and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF (PubMed:24448649). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the pr

LOCALIZAÇÃO

Cytoplasm, cytosolNucleusLysosome membrane

VIAS BIOLÓGICAS (1)
Transcriptional and post-translational regulation of MITF-M expression and activity
MECANISMO DE DOENÇA

Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies

A disorder characterized by severe developmental delay with impaired intellectual development and poor speech, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females.

EXPRESSÃO TECIDUAL(Ubíquo)
Fallopian Tube
116.0 TPM
Útero
109.4 TPM
Nervo tibial
107.4 TPM
Cervix Ectocervix
103.1 TPM
Sangue
102.7 TPM
OUTRAS DOENÇAS (5)
intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse faciesrenal cell carcinoma, Xp11-associatedalveolar soft part sarcomaMIT family translocation renal cell carcinoma
HGNC:11752UniProt:P19532
TMEM127Transmembrane protein 127Candidate gene tested inTolerante
FUNÇÃO

Controls cell proliferation acting as a negative regulator of TOR signaling pathway mediated by mTORC1. May act as a tumor suppressor

LOCALIZAÇÃO

Cell membraneCytoplasm

MECANISMO DE DOENÇA

Pheochromocytoma

A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
52.3 TPM
Bladder
48.8 TPM
Artéria tibial
48.4 TPM
Cervix Endocervix
47.4 TPM
Skin Sun Exposed Lower leg
47.0 TPM
OUTRAS DOENÇAS (3)
hereditary pheochromocytoma-paragangliomaclear cell papillary renal cell carcinomapheochromocytoma
HGNC:26038UniProt:O75204

Medicamentos aprovados (FDA)

3 medicamentos encontrados nos registros da FDA americana.

💊 Everolimus (EVEROLIMUS)
💊 Sunitinib Malate (SUNITINIB MALATE)
💊 KEYTRUDA QLEX (PEMBROLIZUMAB AND BERAHYALURONIDASE ALFA-PMPH)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

1,376 variantes patogênicas registradas no ClinVar.

🧬 TERT: GRCh38/hg38 5p15.33-15.32(chr5:113462-5578808)x1 ()
🧬 TERT: NM_198253.3(TERT):c.3221G>A (p.Cys1074Tyr) ()
🧬 TERT: NM_198253.3(TERT):c.262del (p.Leu88fs) ()
🧬 TERT: NM_198253.3(TERT):c.198_207dup (p.Ser70fs) ()
🧬 TERT: NM_198253.3(TERT):c.11_27dup (p.Val10fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 32,171 variantes classificadas pelo ClinVar.

24128
8043
VUS (75.0%)
Benigna (25.0%)
VARIANTES MAIS SIGNIFICATIVAS
MET: NM_000245.4(MET):c.3467T>G (p.Val1156Gly) [Uncertain significance]
MET: NM_000245.4(MET):c.1595C>T (p.Ala532Val) [Uncertain significance]
MET: NM_000245.4(MET):c.2539C>G (p.Pro847Ala) [Uncertain significance]
MET: NM_000245.4(MET):c.935A>T (p.Glu312Val) [Uncertain significance]
MET: NM_000245.4(MET):c.2512A>G (p.Asn838Asp) [Uncertain significance]

Vias biológicas (Reactome)

165 vias biológicas associadas aos genes desta condição.

Telomere Extension By Telomerase Formation of the beta-catenin:TCF transactivating complex Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence Entry of Influenza Virion into Host Cell via Endocytosis Retrograde neurotrophin signalling Gap junction degradation Formation of annular gap junctions MHC class II antigen presentation EPH-ephrin mediated repulsion of cells Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis Recycling pathway of L1 WNT5A-dependent internalization of FZD4 WNT5A-dependent internalization of FZD2, FZD5 and ROR2 Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis VLDLR internalisation and degradation LDL clearance RHOU GTPase cycle RHOV GTPase cycle ALK mutants bind TKIs Signaling by ALK fusions and activated point mutants Regulation of gene expression in beta cells Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Displacement of DNA glycosylase by APEX1 APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway Defective OGG1 Substrate Binding Defective OGG1 Substrate Processing Defective OGG1 Localization Degradation of beta-catenin by the destruction complex Beta-catenin phosphorylation cascade TCF dependent signaling in response to WNT LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production Apoptotic cleavage of cell adhesion proteins Deactivation of the beta-catenin transactivating complex Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Ca2+ pathway Adherens junctions interactions Binding of TCF/LEF:CTNNB1 to target gene promoters Disassembly of the destruction complex and recruitment of AXIN to the membrane VEGFR2 mediated vascular permeability Myogenesis Signaling by GSK3beta mutants CTNNB1 S33 mutants aren't phosphorylated CTNNB1 S37 mutants aren't phosphorylated CTNNB1 S45 mutants aren't phosphorylated CTNNB1 T41 mutants aren't phosphorylated RHO GTPases activate IQGAPs Transcriptional Regulation by VENTX InlA-mediated entry of Listeria monocytogenes into host cells RUNX3 regulates WNT signaling Cardiogenesis Germ layer formation at gastrulation Regulation of CDH11 function Regulation of CDH19 Expression and Function Regulation of CDH1 Function Degradation of CDH1 Regulation of CDH1 posttranslational processing and trafficking to plasma membrane Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha SUMOylation of ubiquitinylation proteins Neddylation Replication of the SARS-CoV-1 genome Replication of the SARS-CoV-2 genome RHOBTB3 ATPase cycle Antigen processing: Ubiquitination & Proteasome degradation Transcriptional regulation by RUNX3 HATs acetylate histones PKA activation PKA activation in glucagon signalling DARPP-32 events Glucagon-like Peptide-1 (GLP1) regulates insulin secretion Vasopressin regulates renal water homeostasis via Aquaporins CREB1 phosphorylation through the activation of Adenylate Cyclase Hedgehog 'off' state GPER1 signaling ADORA2B mediated anti-inflammatory cytokines production FCGR3A-mediated IL10 synthesis Factors involved in megakaryocyte development and platelet production High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells Amino acids regulate mTORC1 RMTs methylate histone arginines RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Formation of the polybromo-BAF (pBAF) complex SUMOylation of transcription factors Regulation of MITF-M-dependent genes involved in pigmentation Regulation of MITF-M-dependent genes involved in apoptosis Regulation of MITF-M-dependent genes involved in cell cycle and proliferation Regulation of MITF-M dependent genes involved in metabolism Regulation of MITF-M dependent genes involved in invasion Transcriptional and post-translational regulation of MITF-M expression and activity Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy Regulation of MITF-M-dependent genes involved in extracellular matrix, focal adhesion and epithelial-to-mesenchymal transition Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells Regulation of gene expression in early pancreatic precursor cells Nephron development Developmental Lineage of Pancreatic Acinar Cells Developmental Lineage of Pancreatic Ductal Cells Developmental Lineage of Multipotent Pancreatic Progenitor Cells Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) Oncogene Induced Senescence Cyclin D associated events in G1 Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Translocation of SLC2A4 (GLUT4) to the plasma membrane Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) Activation of anterior HOX genes in hindbrain development during early embryogenesis Formation of the anterior neural plate Regulation of FZD by ubiquitination PTK6 Regulates Proteins Involved in RNA Processing Suppression of apoptosis Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genes Activation of NOXA and translocation to mitochondria Activation of PUMA and translocation to mitochondria Pre-NOTCH Transcription and Translation Formation of Senescence-Associated Heterochromatin Foci (SAHF) DNA Damage/Telomere Stress Induced Senescence Autodegradation of the E3 ubiquitin ligase COP1 Association of TriC/CCT with target proteins during biosynthesis Pyroptosis TP53 Regulates Metabolic Genes Ub-specific processing proteases Ovarian tumor domain proteases Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Interleukin-4 and Interleukin-13 signaling TP53 Regulates Transcription of DNA Repair Genes TP53 Regulates Transcription of Genes Involved in Cytochrome C Release TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain TP53 Regulates Transcription of Caspase Activators and Caspases TP53 Regulates Transcription of Death Receptors and Ligands TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest Regulation of TP53 Expression Regulation of TP53 Activity through Phosphorylation Regulation of TP53 Degradation Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Association with Co-factors Regulation of TP53 Activity through Methylation mRNA Splicing - Major Pathway Dengue Virus-Host Interactions PIP3 activates AKT signaling Constitutive Signaling by Aberrant PI3K in Cancer Sema4D mediated inhibition of cell attachment and migration RAF/MAP kinase cascade MET Receptor Activation Negative regulation of MET activity PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling MET activates RAS signaling MET activates PI3K/AKT signaling MET activates PTPN11 MET activates PTK2 signaling InlB-mediated entry of Listeria monocytogenes into host cell MET interacts with TNS proteins MET activates RAP1 and RAC1 MET receptor recycling MET activates STAT3 MECP2 regulates neuronal receptors and channels Drug-mediated inhibition of MET activation ER Quality Control Compartment (ERQC)

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 32
2Fase 212
1Fase 13
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
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Onde tratar no SUS

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🇧🇷 Atendimento SUS — Carcinoma de células renais

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

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NCT03866382 · Testing the Effectiveness of Two Immunotherapy Drugs (Nivolu…Recrutando
PHASE2
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NCT07540260 · CAIX PET/ CT Guided Radiation Therapy in CcRCC.Recrutando
NA
NCT07227415 · Symbiotic-GU-08: A Study to Learn About the Medicine Called …Recrutando
PHASE1, PHASE2
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NCT05663710 · Phase 1b/2 Study of Combination 177Lu Girentuximab Plus Cabo…Recrutando
PHASE1, PHASE2
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PHASE2
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NA
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PHASE2
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PHASE2
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NCT06053658 · Phase 2 Study of Combination Tivozanib and Nivolumab in Adva…Recrutando
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PHASE1
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NCT05969496 · Neoadjuvant Pembrolizumab and Axitinib in Renal Cell Carcino…Recrutando
PHASE2

Outros ensaios clínicos

2.477 ensaios clínicos encontrados, 29 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

🥉Melhor nível de evidência: Relato de caso
Timeline de publicações
29.695 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 29.695

#1

ODF3B Promotes the Progression of Clear Cell Renal Cell Carcinoma via the JAK/STAT Signaling Pathway.

Medical science monitor : international medical journal of experimental and clinical research2026 Mar 25

BACKGROUND Clear cell renal cell carcinoma (ccRCC) is the most common renal malignancy, often associated with poor prognosis due to metastasis and treatment resistance. The Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway is a major oncogenic driver in ccRCC, but its upstream regulators remain unclear. Outer dense fiber of sperm tails 3B (ODF3B), initially identified in sperm flagella, shows aberrant expression in a subset of human malignancies, and emerging transcriptomic data suggest notable dysregulation of ODF3B in ccRCC, although its functional role in this tumor type remains unknown. MATERIAL AND METHODS ODF3B expression was analyzed using data from The Cancer Genome Atlas (TCGA) and validated in ccRCC cell lines. Prognostic significance was evaluated through clinicopathological and survival analyses. Functional assays, including Cell Counting Kit 8, colony formation, wound healing, Transwell assay, and flow cytometry, were performed after ODF3B knockdown in 786-O and OSRC-2 cells. Pathway enrichment analyses and Western blotting were used to explore mechanisms, and rescue experiments were conducted with the STAT3 agonist Colivelin TFA. RESULTS ODF3B was markedly upregulated in ccRCC tissues and cells, with high expression correlating with advanced stage, metastasis, and poor survival. ODF3B silencing suppressed proliferation, migration, and invasion while enhancing apoptosis, accompanied by reduced BCL2 and increased cleaved caspase-3. Bioinformatics revealed strong enrichment of JAK/STAT signaling in tumors with high expression of ODF3B. Mechanistically, ODF3B knockdown decreased phosphorylation of JAK1/2/3 and STAT3, whereas STAT3 activation rescued proliferative and anti-apoptotic effects. CONCLUSIONS ODF3B acts as a novel oncogenic driver in ccRCC by activating JAK/STAT signaling. Its overexpression predicts aggressive features and poor prognosis, highlighting ODF3B as a potential therapeutic target.

#2

MAGI3 deficiency unleashes β-catenin conformational change to drive metastatic progression and mTOR inhibitor resistance in ccRCC.

Cell death &amp; disease2026 Mar 24

Metastatic clear cell renal cell carcinoma (ccRCC) remains lethal due to therapy resistance, and while dysregulated Wnt/β-catenin signaling drives progression, its post-translational regulation is poorly understood. Through multi-omics analysis of TCGA/GEO datasets, we identified MAGI3 as a key metastasis suppressor in ccRCC. Functional validation revealed that MAGI3 loss enhances invasion, migration and metastatic potential in vitro and in vivo. Mechanistically, MAGI3 binds β-catenin's C-terminus via PDZ domains, disrupting intramolecular N-terminus-ARM domain interactions to expose phosphorylation sites, thereby enabling GSK-3β-mediated β-catenin phosphorylation and ubiquitin-dependent degradation. Critically, low MAGI3 hyperactivates β-catenin and drives mTOR inhibitor resistance. Combining Everolimus with the Wnt inhibitor XAV-939 slashed viability and invasion in resistant cells. Clinically, patients whose tumors exhibited high MAGI3 and low β-catenin expression demonstrated significantly improved response to Everolimus therapy. In conclusion, MAGI3 is a critical gatekeeper of β-catenin destruction in ccRCC. Its loss defines a metastatic, therapy-resistant subtype targetable by dual mTOR/Wnt blockade. Therefore, MAGI3 expression may stratify patients for personalized therapy.

#3

DR5/WDR12 balances p65 stability promoting sunitinib resistance in renal cell carcinoma.

Cell death and differentiation2026 Mar 23

Although the use of tyrosine kinase inhibitors (TKIs), such as sunitinib, has led to impressive advancements in the treatment of clear cell renal cell carcinoma (ccRCC), primary or acquired resistance to sunitinib remains elusive. Here, we report that death receptor 5 (DR5) is upregulated in ccRCC tissues and sunitinib-resistant cells, and is associated with poor outcomes and sunitinib resistance. Gain- and loss-of-function experiments revealed that DR5 promotes sunitinib resistance both in vitro and in vivo. Mechanistically, DR5 enhances the activation of NF-κB signalling by reducing the ubiquitin-mediated proteasomal degradation of p65 via competitive binding to the CUL4B-DDB1 E3 ligase complex linker protein WDR12, leading to the transcriptional upregulation of DR5 and BCL2. The positive feedback loop between DR5 and p65 contributes to the upregulation of BCL2 expression, which in turn modulates sunitinib resistance in ccRCC. Notably, targeting the DR5/NF-κB/BCL2 axis sensitizes ccRCC cells to sunitinib both in vitro and in vivo. Clinically, ccRCC patients with high DR5 expression show decreased responsiveness to TKI-based therapy. Collectively, these results highlight the importance of the positive feedback loop involving the DR5/NF-κB axis in sunitinib resistance and provide an effective therapeutic strategy for overcoming resistance.

#4

TRIM21-Mediated ubiquitination of FBL suppresses PI3K/AKT signaling and tumor progression in clear cell renal cell carcinoma.

Cellular and molecular life sciences : CMLS2026 Mar 21

Clear cell renal cell carcinoma (ccRCC) frequently exhibits transcriptional reprogramming driven by oncogenic C-Myc. Fibrillarin (FBL), a nucleolar C-Myc target, is markedly upregulated in ccRCC, correlating with poor prognosis and essential for tumor cell survival. Integrated single-cell RNA sequencing, bulk transcriptomics, and proteomics were used to identify FBL as a key target. Functional assays, immunoprecipitation-mass spectrometry, and molecular docking were performed to investigate FBL's oncogenic mechanisms and interaction with TRIM21. FBL promotes ccRCC cell proliferation, migration, and tumor growth via PI3K/AKT pathway activation. TRIM21 was identified as a novel FBL-binding E3 ubiquitin ligase that catalyzes K48-linked polyubiquitination of FBL at lysine 292, accelerating its proteasomal degradation. TRIM21 overexpression reduces FBL levels, inhibits PI3K/AKT signaling, and reverses FBL-induced oncogenic phenotypes. TRIM21 is downregulated in ccRCC tissues and associated with unfavorable prognosis. The TRIM21-FBL axis regulates ccRCC progression by modulating PI3K/AKT signaling, providing mechanistic insight and potential therapeutic targets for ribosome biogenesis and oncogenic signaling.

#5

ZBED6-IGF2-PIK3C3 autophagy axis drives ccRCC progression: A multi-omics integration study.

iScience2026 Mar 20

Autophagy supports clear cell renal cell carcinoma (ccRCC) progression, yet its upstream regulatory mechanisms remain to be fully defined. Integrating bulk, single-cell, and spatial transcriptomics, we identify a regulatory axis wherein the transcription factor ZBED6 activates the expression of the autophagy-initiating kinase PIK3C3 via the repression of IGF2, thereby driving pro-tumorigenic autophagy. Spatial analysis confirms the co-localization of ZBED6 and PIK3C3 in tumor tissues. Using genes associated with this axis, we develop a six-gene prognostic signature that stratifies patients with distinct survival outcomes and differential responses to immunotherapy and targeted therapy. Functional assays show that ZBED6 promotes ccRCC cell proliferation, migration, and invasion. This work elucidates a pathway governing autophagy in ccRCC and provides a framework for prognostic assessment and precision therapy.

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2026

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European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP)
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ODF3B Promotes the Progression of Clear Cell Renal Cell Carcinoma via the JAK/STAT Signaling Pathway.

Medical science monitor : international medical journal of experimental and clinical research
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BMC medical imaging
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MAGI3 deficiency unleashes β-catenin conformational change to drive metastatic progression and mTOR inhibitor resistance in ccRCC.

Cell death &amp; disease
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The Journal of clinical investigation
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Unclear territory: navigating metastatic nonclear cell renal cell carcinoma.

Current opinion in oncology
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Short and Long Non-Coding RNAs in Renal Cell Carcinoma.

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SETD2 methyltransferase activity promotes correct transcription initiation and termination.

EMBO reports
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DR5/WDR12 balances p65 stability promoting sunitinib resistance in renal cell carcinoma.

Cell death and differentiation
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Patient-derived organoids in renal cell carcinoma: A review of methodologies and applications.

Urologic oncology
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Society for Immunotherapy of Cancer (SITC) clinical practice guideline on immunotherapy for the treatment of renal cell carcinoma, version 3.0.

Journal for immunotherapy of cancer
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Frontiers in oncology
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A Life-Threatening Metastasis of Renal Cell Carcinoma: An Endotracheal Metastasis.

Cureus
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Identification of risk factors for the development and prognosis of bone metastases in renal cell carcinoma: development and validation of a predictive model.

American journal of cancer research
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Metastatic renal cell carcinoma to the thyroid gland with tracheal invasion: A case report.

Radiology case reports
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Makorin Ring Finger Protein 1 Inhibits Cell Proliferation in Renal Angiomyolipoma via the ERK/MAPK Signaling Pathway.

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Neuro-Chirurgie
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SLAMF1 at the crossroads of immunity and disease: Biology, pathology, and therapeutic opportunities.

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An interpretable machine learning model based on habitat radiomics combined with deep learning for predicting the WHO/ISUP grade of patients with clear cell renal cell carcinoma.

BMC medical imaging
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Monogenic and Polygenic Risk for Kidney Cancer in Two Large Biobanks.

European urology oncology
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Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapy
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Multi-omics profiling identifies ectopic olfactory receptors as putative drivers of tumor progression and prognostic indicators in clear cell renal cell carcinoma.

Clinical and experimental medicine
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TRIM21-Mediated ubiquitination of FBL suppresses PI3K/AKT signaling and tumor progression in clear cell renal cell carcinoma.

Cellular and molecular life sciences : CMLS
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PARTIAL: study protocol for a clinical and cost-effectiveness of complex PARTIAL vs radical nephrectomy for clinically localised renal cell carcinoma randomised trial.

Trials
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Current opinion in urology
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Medicine
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Recurrent Mental Cutaneous Metastases Secondary to Bilateral Renal Cell Carcinoma.

Cureus
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RAB24 maps comprehensive clinical landscapes and mediates tumor malignant progression under the epigenetic regulation of miR-30b-3p and MMP11 in clear cell renal cell carcinoma.

Genes &amp; diseases
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ZBED6-IGF2-PIK3C3 autophagy axis drives ccRCC progression: A multi-omics integration study.

iScience
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A prospective head-to-head comparison of 18F-NYM005 PET/CT and 18F-FDG PET/CT in diagnosing renal cell carcinoma.

European journal of nuclear medicine and molecular imaging
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FUT8 reprograms glycolytic metabolism to promote PKM2 lactylation and drive clear cell renal cell carcinoma progression.

Cell death discovery
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Cell death &amp; disease
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A Systematic Review and Meta-Analysis of the Significance of Diabetes on Kidney Cancer Outcomes and the Role of Metformin.

Clinical genitourinary cancer
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[The effect of preoperative inflammatory indicators on the prognosis of patients with T1a renal cell carcinoma undergoing surgery and the construction of a predictive model].

Zhonghua yi xue za zhi
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Clinical characteristics and follow-up of 77 patients with pathogenic fumarate hydratase variants.

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Cureus
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Gastro hep advances
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TAOK3 promotes ccRCC progression by phosphorylating ASAP2.

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Qatar medical journal
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Initial and Repeat Metastasis-Directed Therapy in Systemic Therapy-Naïve Oligometastatic Renal Cell Carcinoma: Oncologic Outcomes and Risk-Based Stratification.

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USP20 governs tyrosine kinase inhibitors resistance through ferroptosis evasion by targeting GPX4 in cancers.

Redox biology
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[Cryoablation for Renal Cell Carcinoma: Update on an Established Ablative Technique].

Aktuelle Urologie
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Radiotherapy Utilization Patterns Among Patients With Metastatic Renal Cell Carcinoma of the Spine: A National Claims Database Study.

American journal of clinical oncology
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The Cyclin C-CDK8/19 Mediator kinase module controls PRCC-TFE3 driven senescence in renal epithelium and tumorigenesis in TFE3-RCC.

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A Minimum 3-Year Follow-Up of Nivolumab-Plus-Ipilimumab in Japanese Patients With Advanced or Metastatic Renal Cell Carcinoma: A Final Analysis of the J-ENCORE Study.

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Protocol for constructing an orthotopic mouse model of metastatic renal cell carcinoma.

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A case report of the world's biggest renal cell carcinoma successfully removed.

International journal of surgery case reports
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Therapeutic advances in urology
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IL20RB promotes proliferation and migration in clear cell renal cell carcinoma and is associated with immune infiltration.

PeerJ
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Epithelial-mesenchymal transition and sunitinib resistance in renal cell carcinoma: mechanisms and therapeutic strategies.

Frontiers in pharmacology
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Large sarcomatoid chromophobe renal cell carcinoma with tumor thrombus extending into the inferior vena cava: a case report on the challenges and lessons from a fatal outcome.

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Surgical Resection of Abdominal Solid Organ Tumors With Inferior Vena Cava Extension: A Single-Center Experience With Long-Term Follow-Up.

Cureus
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Nutrient intake and renal cancer: molecular pathways and mechanistic insights into the protective role of dietary components.

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Safety, Efficacy, and Intermediate‑Term Outcomes of CT‑Guided Cryoablation of T1 Renal Cell Carcinoma: A Retrospective Single‑Center Study.

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Predicting aggressiveness of clear cell renal cell carcinoma via mri using artificial intelligence: implications for surgical planning in a retrospective multicenter study.

Scientific reports
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Sterotactic ablative radiotherapy vs. thermal ablation of localized renal cell carcinoma: Is there a preferred second-line management option?

Urologic oncology
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Proton beam therapy versus photon therapy for multiple malignancies: An umbrella systematic review and meta-analysis.

Critical reviews in oncology/hematology
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International journal of molecular sciences
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Updates on Clinical Trials and Molecular Characteristics of Locally Advanced and Oligometastatic Renal Cell Carcinoma.

International journal of molecular sciences
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Cancers
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Cell death and differentiation
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Critical reviews in oncology/hematology
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Molecular and cellular biochemistry
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A new cuproptosis-associated lncRNA signature predicts the prognosis of clear cell renal cell carcinoma patients.

Discover oncology
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Stereotactic ablative radiotherapy: an effective alternative for pancreatic metastases originating from renal cell carcinoma-experience from two European institutions.

Clinical &amp; experimental metastasis
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Application of carbonic anhydrase IX-targeted radiopharmaceuticals in the diagnosis and treatment of clear cell renal cell carcinoma (Review).

Oncology letters
2026

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Frontiers in cell and developmental biology
2026

Functional and Survival Outcomes of Partial Versus Radical Nephrectomy in Renal Cell Carcinoma Patients With Pre-Existing Chronic Kidney Disease: A Real-World Study.

World journal of oncology
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Tertiary lymphoid structures in genitourinary cancers: a comprehensive review.

Frontiers in oncology
2026

The prognostic impact of systemic inflammation and nutritional indicators on targeted therapy for renal cell carcinoma: a systematic review and meta-analysis.

Frontiers in nutrition
2026

Elevated DOCK4 expression correlates with favorable prognosis and immune infiltration in clear cell renal cell carcinoma.

Annals of medicine
2026

Impact of Perioperative Proton Pump Inhibitors on Renal Cancer Progression. A Retrospective Study.

Cancer medicine
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Pattern and Clinical Significance of CA19-9 Expression in Human Cancer: A Tissue Microarray Study on 14,966 Tumors.

Cancer medicine
2026

Feasibility of Spectral Computed Tomography Color Overlay to Augment Tumor Visibility for Renal Cryoablation.

Cardiovascular and interventional radiology
2026

Impact of high relative dose intensity on effectiveness and treatment continuity of IO-TKI therapy in Japanese advanced renal cell carcinoma.

Scientific reports
2026

VHL synthetic lethality screens uncover CBF-β as a negative regulator of STING.

Nature communications
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Current medical imaging
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[rare subtype of kidney cancer - Pigmented microcystic chromophobe carcinoma].

Magyar onkologia
2026

Comprehensive immunohistochemical and molecular characterization of paratesticular clear cell papillary cystadenomas: A multi-institutional study of 14 cases.

Annals of diagnostic pathology
2026

A lactylation-related gene signature predicts prognosis and immunotherapy response in clear cell renal cell carcinoma based on machine learning and multi-omics analysis.

Discover oncology
2026

Comparative outcomes and costs of robotic assisted, laparoscopic, and open partial nephrectomy: a contemporary analysis of national inpatient sample data.

World journal of urology
2026

Anastomosing hemangioma of the renal pelvis: The first case report from Vietnam.

Urology case reports
2026

Symptomatic renal tumor in mid-pregnancy managed with nephrectomy and term vaginal delivery: a case report and literature review.

International journal of surgery case reports
2026

Renal schwannoma appears on imaging as renal cell carcinoma: a case report.

Journal of medical case reports
2026

Ultrasound-assisted diagnosis and ultrasound-guided radiofrequency ablation of renal cell carcinoma in a patient with autosomal dominant polycystic kidney disease: a case report with two-year follow-up.

BMC nephrology
2026

Baseline and three-month De Ritis ratio and gamma-glutamyltransferase as prognostic biomarkers in metastatic renal cell carcinoma treated with targeted therapy.

Scientific reports
2026

Gamma-aminobutyric acid transaminase mediates tumor suppression in renal cell carcinoma through the cGAS-STING-interferon-β axis.

Scientific reports
2026

Long non-coding RNA PSMB8-AS1 as a potential biomarker for postoperative recurrence in patients with Fuhrman grades 1-3 clear cell renal cell carcinoma.

PloS one
2026

Multi-omics integration constructs a senescence-based prognostic model and identifies EIF4EBP1 as a therapeutic target in clear cell renal cell carcinoma.

Discover oncology
2026

Barriers to Health Care Access and Use among Racial and Ethnic Minorities with Renal Cell Carcinoma.

Urology practice
2026

In vivo self-assembled siRNAs targeting VEGFR2 and mTOR for renal cell carcinoma treatment.

Asian journal of pharmaceutical sciences
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Acta histochemica et cytochemica
2026

Current research on the HIF-2α-EPO-Hb axis in hypoxic environments: from molecular mechanisms to clinical.

Frontiers in medicine
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One size does not fit all: rethinking IO-TKI use in favorable-risk metastatic ccRCC.

Frontiers in oncology
2026

Combined assessment of ERO1A expression and CD163+ tumor-associated macrophage infiltration is superior to traditional assessment methods in predicting clear cell renal cell carcinoma prognosis.

Frontiers in oncology
2026

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Frontiers in oncology
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Translational andrology and urology
2026

First report of transumbilical robotic-assisted single-port laparoscopic partial nephrectomy using a domestic Shurui® robotic system: a report of two cases.

Translational andrology and urology
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USP10 regulates HIF2α stability by deubiquitinating HIF2α regardless of VHL status in kidney cancer.

Translational andrology and urology
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Scientific reports
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Discover oncology
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Cancer discovery
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Bioinformatics advances
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GFPT2 drives sunitinib resistance of renal cell carcinoma via enzyme-dependent and -independent manners.

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Lancet regional health. Americas
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Frontiers in oncology
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Connective tissue growth factor contributes to resistance to anti-angiogenic therapies in renal cancer.

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JCI insight
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Genes and immunity
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The oncovascular surgeon in modern surgical oncology: A literature review.

European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology
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Survival outcomes after surgical treatment for non-clear cell renal cell carcinoma with tumor thrombus extension: a population-based cohort study.

World journal of urology
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Sarcomatoid Renal Cell Carcinoma: Biological Features and Therapeutic Implications-A Narrative Review.

Current urology reports
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DNA methyltransferase inhibition is a therapeutic vulnerability in VHL-deficient renal cell carcinoma cells.

Experimental &amp; molecular medicine
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Node Positive Resected Renal Cell Carcinoma Portends a Poor Prognosis: Results From the Canadian Kidney Cancer Collaboration.

Clinical genitourinary cancer
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Inhibitory effects and molecular mechanisms of Aristolochic acids on human and rat placental 3β-hydroxysteroid dehydrogenases.

Journal of ethnopharmacology
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Real-World Outcomes in Advanced Clear Cell Renal Cell Carcinoma: A Retrospective Analysis Comparing New Zealand and Australian Cohorts.

JCO global oncology
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Multi-omics analysis suggests ZDHHC18 as a potential risk factor for clear cell renal cell carcinoma linked to myeloid DC morphology.

Discover oncology
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ALK-Rearranged Renal Cell Carcinoma: Morphologic Spectrum and Genomic Landscape From a Multi-Institutional Cohort of 16 Cases.

The American journal of surgical pathology
2026

Emerging role of functional imaging in renal cell carcinoma: from morphology to molecular phenotyping with PET/computed tomography.

Current opinion in oncology
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Reliable Detection of SGLT2 Protein by Knockout-Based Antibody Characterization.

Hypertension (Dallas, Tex. : 1979)
2026

Case Report: A patient with metastatic fumarate hydratase-deficient renal cell carcinoma associated with leiomyomatosis: real-world clinical insights on systemic therapy and liver-directed SBRT.

Frontiers in oncology
2026

Study on the prediction of postoperative metastasis in renal cancer using perirenal fat CT radiomics combined with clinical features.

Frontiers in oncology
2026

Impact of bone-targeting agents on the clinical outcomes in patients with metastatic renal cell carcinoma treated with nivolumab: a sub-analysis of the Meet-URO 15 study.

Frontiers in oncology
2026

Clear cell renal cell carcinoma combined with intravascular large B-cell lymphoma: a case report and review of the literature.

Frontiers in oncology
2026

CLINICAL CASE OF COMPLEX RADICAL TREATMENT OF METASTATIC PROGRESSION TO RARE SITE OF PRIMARY ORGAN CONFINED CHROMOPHOBE RENAL CELL CARCINOMA TREATED WITH LAPAROSCOPIC PARTIAL NEPHRECTOMY.

Experimental oncology
2026

Gut microbiota modulation of epigenetic target EHMT2: Lacticaseibacillus rhamnosus Fb7-311 regulated renal cell carcinoma apoptosis and metastasis.

Experimental &amp; molecular medicine
2026

Pellino1-mTOR/S6K1 signaling axis is a key pathogenesis for the development of polycystic kidney disease.

Cell death &amp; disease
2026

Nivolumab plus ipilimumab versus sunitinib for first-line treatment of advanced renal cell carcinoma: final analysis of efficacy and safety from the phase III CheckMate 214 trial.

Annals of oncology : official journal of the European Society for Medical Oncology
2026

Outcomes after Pancreatic Resections for Secondary Tumours in the Pancreas: A Single Centre Experience.

Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract
2026

Clinical, pathologic, and molecular profiles of sarcomatoid and rhabdoid differentiated clear cell renal cell carcinoma: A series of 21 tumors.

Human pathology
2026

ICG fluorescence imaging in sentinel lymph node identification: toward a standardized protocol in paediatric renal tumour surgery.

Pediatric surgery international
2026

Citronellol potentiates sunitinib efficacy in renal cell carcinoma by targeting JAK2/STAT3 signaling pathway.

Naunyn-Schmiedeberg's archives of pharmacology
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Nitroimidazole-Containing [68Ga]Ga-IPM-N001 as a New CAIX-Targeting Radionuclide Tracer.

Journal of medicinal chemistry
2026

Unraveling the role of LINC02657 in clear cell renal cell carcinoma: insights into tumor aggression, immune modulation, and treatment response.

Frontiers in immunology
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HIF2 drives PTHrP-mediated cancer cachexia.

Trends in molecular medicine
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DUSP15 exhibits structural and dynamical signatures inconsistent with catalytic phosphatase activity.

Biochimica et biophysica acta. Proteins and proteomics
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Prediction of Distant Metastasis in Renal Cell Carcinoma Using Machine Learning Algorithms: A Multicenter Cohort Study.

Cancer control : journal of the Moffitt Cancer Center
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Hereditary Leiomyomatosis and Renal Cell Carcinoma.

JAMA dermatology
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Activation of the PI3K/AKT pathway by EDIL3 induces EMT and promotes tumor progression in clear cell renal cell carcinoma.

Molecular genetics and genomics : MGG
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Immunohistochemical expression of GPNMB in TFEB-rearranged and TFEB-amplified renal cell carcinomas.

Virchows Archiv : an international journal of pathology
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Early-Onset Immune Checkpoint Inhibitor-Induced Myasthenia Gravis Following First-Cycle Pembrolizumab: Diagnostic Challenges and Management Strategies.

Cureus
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Rapidly Progressive Overlap of Immune Checkpoint Inhibitor-Induced Myositis and Myasthenia Gravis: Diagnostic and Therapeutic Challenges.

Cureus
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Identifying new targets for the treatment of renal medullary carcinoma: from biological hallmarks to precision therapies.

Future oncology (London, England)
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Influence of body composition on the efficacy of nivolumab plus ipilimumab for metastatic clear cell renal cell carcinoma.

Journal for immunotherapy of cancer
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Neoadjuvant Systemic Therapy in Kidney and Bladder Cancer: Current Evidence and Emerging Paradigms.

American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting
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Modified clear cell likelihood score and a new CAT score in the assessment of indeterminate small renal masses.

Journal of cancer research and clinical oncology
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Staging and imaging-based prognostication in renal cell carcinoma: current guidelines and practical considerations.

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. ODF3B Promotes the Progression of Clear Cell Renal Cell Carcinoma via the JAK/STAT Signaling Pathway.
    Medical science monitor : international medical journal of experimental and clinical research· 2026· PMID 41877380mais citado
  2. MAGI3 deficiency unleashes &#x3b2;-catenin conformational change to drive metastatic progression and mTOR inhibitor resistance in ccRCC.
    Cell death &amp; disease· 2026· PMID 41876458mais citado
  3. DR5/WDR12 balances p65 stability promoting sunitinib resistance in renal cell carcinoma.
    Cell death and differentiation· 2026· PMID 41872532mais citado
  4. TRIM21-Mediated ubiquitination of FBL suppresses PI3K/AKT signaling and tumor progression in clear cell renal cell carcinoma.
    Cellular and molecular life sciences : CMLS· 2026· PMID 41863623mais citado
  5. ZBED6-IGF2-PIK3C3 autophagy axis drives ccRCC progression: A multi-omics integration study.
    iScience· 2026· PMID 41858898mais citado
  6. Metachronous bilateral renal cancer with immune checkpoint blockade-mediated eradication of bone metastasis: case report.
    Front Oncol· 2026· PMID 41994638recente
  7. Correction: Case Report: A rare case of Pneumocystis jirovecii infection with left hydropneumothorax following immunotherapy for stage IVB clear cell renal cell carcinoma.
    Front Med (Lausanne)· 2026· PMID 41994469recente
  8. Case Report: A rare case of Pneumocystis jirovecii infection with left hydropneumothorax following immunotherapy for stage IVB clear cell renal cell carcinoma.
    Front Med (Lausanne)· 2026· PMID 41994458recente
  9. A probiotic bacterium modulates antitumour γδ T-cell responses in lung cancer.
    Front Immunol· 2026· PMID 41993168recente
  10. Mechanistic study of MUC3A in promoting progression of clear cell renal cell carcinoma via the JAK‑STAT pathway.
    Oncol Rep· 2026· PMID 41992986recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:217071(Orphanet)
  2. MONDO:0005086(MONDO)
  3. GARD:13215(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q1164529(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Carcinoma de células renais
Compêndio · Raras BR

Carcinoma de células renais

ORPHA:217071 · MONDO:0005086
Prevalência
1-5 / 10 000
Herança
Not applicable
CID-10
C64 · Neoplasia maligna do rim, exceto pelve renal
CID-11
Ensaios
29 ativos
Início
Adult
Prevalência
42.0 (Europe)
MedGen
UMLS
C0007134
Repurposing
7 candidatos
axitinibPDGFR tyrosine kinase receptor inhibitor|VEGFR inhibitor
everolimusmTOR inhibitor
pazopanibKIT inhibitor|PDGFR tyrosine kinase receptor inhibitor|VEGFR inhibitor
+4 outros
Wikidata
Wikipedia
Papers 10a
Evidência
🥉 Relato de caso
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