# Carcinoma de células renais

> Página oficial: https://raras.org/doenca/carcinoma-de-celulas-renais
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 217071 — https://www.orpha.net/en/disease/detail/217071
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Carcinoma que surge das células epiteliais glandulares do rim

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Not applicable

## Sinais e sintomas (49 fenótipos HPO)

- **Acuidade visual reduzida** — HPO: HP:0007663
- **Catarata** — HPO: HP:0000518
- **Aumento do nível urinário de cortisol** — HPO: HP:0012030
- **Aumento do estradiol sérico** — HPO: HP:0025134
- **Nistagmo congênito** — HPO: HP:0006934
- **Palpitações** — HPO: HP:0001962
- **Carcinoma de células renais papilífero** — HPO: HP:0006766
- **Hipertensão** — HPO: HP:0000822
- **Aumento paradoxal da secreção de cortisol no teste de supressão por dexametasona** — HPO: HP:0003466
- **Ansiedade** — HPO: HP:0000739
- **Anormalidade do metabolismo/homeostase** — HPO: HP:0001939
- **Aumento da concentração circulante de androstenediona** — HPO: HP:0025380
- **Adenocarcinoma pulmonar** — HPO: HP:0030078
- **Hipertricose** — HPO: HP:0000998
- **Fraqueza muscular** — HPO: HP:0001324
- **Carcinoma adrenocortical** — HPO: HP:0006744
- **Hipoplasia do nervo óptico** — HPO: HP:0000609
- **11-desoxicortisol sérico elevado** — HPO: HP:0025436
- **Anormalidade da fisiologia do sistema reprodutor** — HPO: HP:0000080
- **Deficiência de hormônio adrenocorticotrófico** — HPO: HP:0011748
- **Subluxação de lente** — HPO: HP:0001132
- **Anomalia "morning glory"** — HPO: HP:0025514
- **Aumento da concentração circulante de andrógenos** — HPO: HP:0030348
- **Cataratas pré-senis** — HPO: HP:0007819
- **Hipoplasia da fóvea** — HPO: HP:0007750
- **Glaucoma** — HPO: HP:0000501
- **Deficiência visual** — HPO: HP:0000505
- **Carcinoma de células renais** — HPO: HP:0005584
- **Hiperidrose** — HPO: HP:0000975
- **Irritabilidade** — HPO: HP:0000737
- **Aumento do nível circulante de cortisol** — HPO: HP:0003118
- **Aniridia** — HPO: HP:0000526
- **Ataque de pânico** — HPO: HP:0025269
- **Carcinoma do plexo coroide** — HPO: HP:0030392
- **Dor abdominal** — HPO: HP:0002027
- **Nível sérico anormal de deidroepiandrosterona** — HPO: HP:0500022
- **Hiperaldosteronismo** — HPO: HP:0000859
- **Remanescentes do sistema vascular hialoide** — HPO: HP:0007968
- **Coloboma da íris** — HPO: HP:0000612
- **Atrofia óptica** — HPO: HP:0000648
- _...e mais 9 sintomas. Ver https://raras.org/doenca/carcinoma-de-celulas-renais._

## Genes associados (30)

- **TERT** — Telomerase reverse transcriptase [Candidate gene tested in]
  - 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 somati
- **CLTC** — Clathrin heavy chain 1 [Candidate gene tested in]
  - 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
- **HNF1A** — Hepatocyte nuclear factor 1-alpha [Disease-causing germline mutation(s) in]
  - 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'-GTTAAT
- **OGG1** — N-glycosylase/DNA lyase [Disease-causing germline mutation(s) in]
  - 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
- **CTNNB1** — Catenin beta-1 [Candidate gene tested in]
  - 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)
- **DIRC3** [Candidate gene tested in]
- **VHL** — von Hippel-Lindau disease tumor suppressor [Disease-causing germline mutation(s) in]
  - 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 rec
- **FHIT** — Bis(5'-adenosyl)-triphosphatase [Candidate gene tested in]
  - 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) triphospha
- **SLC49A4** — Solute carrier family 49 member 4 [Candidate gene tested in]
  - Função: Mediates H(+)-dependent pyridoxine transport
- **ELP4** — Elongator complex protein 4 [Disease-causing germline mutation(s) in]
  - 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-c
- **PRKAR1A** — cAMP-dependent protein kinase type I-alpha regulatory subunit [Candidate gene tested in]
  - Função: Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells
- **FLCN** — Folliculin [Disease-causing germline mutation(s) in]
  - 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, Pub
- **PBRM1** — Protein polybromo-1 [Disease-causing germline mutation(s) in]
  - 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 co
- **MITF** — Microphthalmia-associated transcription factor [Candidate gene tested in]
  - 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). Bi
- **HNF1B** — Hepatocyte nuclear factor 1-beta [Candidate gene tested in]
  - 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).

## Ensaios clínicos ativos (29)

- **NCT03866382** [RECRUITING]: Testing the Effectiveness of Two Immunotherapy Drugs (Nivolumab and Ipilimumab) With One Anti-cancer Targeted Drug (Cabozantinib) for Rare Genitourinary Tumors — https://clinicaltrials.gov/study/NCT03866382
- **NCT05969860** [RECRUITING]: At-Home Cancer Directed Therapy Versus in Clinic for the Treatment of Patients With Advanced Cancer — https://clinicaltrials.gov/study/NCT05969860
- **NCT07540260** [RECRUITING]: CAIX PET/ CT Guided Radiation Therapy in CcRCC. — https://clinicaltrials.gov/study/NCT07540260
- **NCT07227415** [RECRUITING]: Symbiotic-GU-08: A Study to Learn About the Medicine Called PF-08634404 Dosed Alone and in Combination With Other Anticancer Therapies in Adults With Locally Advanced or Metastatic Renal Cell Cancer — https://clinicaltrials.gov/study/NCT07227415
- **NCT07405164** [RECRUITING]: Extension Study for Participants in Studies That Include Belzutifan (MK-6482-043/LITESPARK-043) — https://clinicaltrials.gov/study/NCT07405164
- **NCT07227402** [RECRUITING]: A Clinical Study of Belzutifan and Zanzalintinib in People With Recurrent Kidney Cancer Following Adjuvant Therapy (MK-6482-033) — https://clinicaltrials.gov/study/NCT07227402
- **NCT05663710** [RECRUITING]: Phase 1b/2 Study of Combination 177Lu Girentuximab Plus Cabozantinib and Nivolumab in Treatment naïve Patients With Advanced Clear Cell RCC — https://clinicaltrials.gov/study/NCT05663710
- **NCT07223424** [RECRUITING]: Patient Preference for Subcutaneous vs. Intravenous Immune Therapy — https://clinicaltrials.gov/study/NCT07223424
- **NCT04693377** [RECRUITING]: Cryoablation Combined With Stereotactic Body Radiation Therapy for the Treatment of Painful Bone Metastases, the CROME Trial — https://clinicaltrials.gov/study/NCT04693377
- **NCT06638931** [RECRUITING]: Agnostic Therapy in Rare Solid Tumors — https://clinicaltrials.gov/study/NCT06638931

## Doenças relacionadas (por similaridade fenotípica)

- [Tumor vascular maligno](https://raras.org/doenca/tumor-vascular-maligno) — ORPHA:673466 — 30 sintomas em comum
- [Carcinoma adrenocortical](https://raras.org/doenca/carcinoma-adrenocortical) — ORPHA:1501 — 30 sintomas em comum
- [Carcinoma medular renal](https://raras.org/doenca/carcinoma-medular-renal) — ORPHA:319319 — 17 sintomas em comum
- [Síndrome Cushing endógena](https://raras.org/doenca/sindrome-cushing-endogena) — ORPHA:641613 — 15 sintomas em comum
- [Síndrome Cushing dependente de ACTH](https://raras.org/doenca/sindrome-cushing-dependente-de-acth) — ORPHA:99892 — 13 sintomas em comum
- [Síndrome Cushing por secreção ectópica de ACTH](https://raras.org/doenca/sindrome-cushing-por-secrecao-ectopica-de-acth) — ORPHA:99889 — 12 sintomas em comum
- [Aniridia isolada](https://raras.org/doenca/aniridia-isolada) — ORPHA:250923 — 11 sintomas em comum
- [Adenoma hipofisário isolado familiar](https://raras.org/doenca/adenoma-hipofisario-isolado-familiar) — ORPHA:314777 — 11 sintomas em comum
- [Distrofia da córnea](https://raras.org/doenca/distrofia-da-cornea) — ORPHA:34533 — 11 sintomas em comum
- [Hipoparatireoidismo genético](https://raras.org/doenca/hipoparatireoidismo-genetico) — ORPHA:208593 — 11 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

---

**Citação sugerida**: Raras.org — Carcinoma de células renais. Disponível em: https://raras.org/doenca/carcinoma-de-celulas-renais
**Formato HTML**: https://raras.org/doenca/carcinoma-de-celulas-renais
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=217071