Raras
Buscar doenças, sintomas, genes...
Ataxia-telangiectasia
ORPHA:100CID-10 · G11.3CID-11 · 4A01.31OMIM 208900DOENÇA RARA

A Ataxia-telangiectasia é uma condição que combina uma falha grave no sistema de defesa do corpo (que atrapalha principalmente a produção de anticorpos para combater doenças) com uma falta de coordenação que vai piorando com o tempo, causada por problemas no cerebelo (a parte do cérebro que controla o equilíbrio e os movimentos). Ela se manifesta com sintomas neurológicos, como a própria falta de coordenação, vasinhos vermelhos visíveis na pele e nos olhos (chamados telangiectasias), maior facilidade para pegar infecções e um risco mais alto de desenvolver câncer.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Ataxia-telangiectasia é uma condição que combina uma falha grave no sistema de defesa do corpo (que atrapalha principalmente a produção de anticorpos para combater doenças) com uma falta de coordenação que vai piorando com o tempo, causada por problemas no cerebelo (a parte do cérebro que controla o equilíbrio e os movimentos). Ela se manifesta com sintomas neurológicos, como a própria falta de coordenação, vasinhos vermelhos visíveis na pele e nos olhos (chamados telangiectasias), maior facilidade para pegar infecções e um risco mais alto de desenvolver câncer.

Pesquisas ativas
6 ensaios
58 total registrados no ClinicalTrials.gov
Publicações científicas
8.064 artigos
Último publicado: 2026
Medicamentos
4 registrados
DEXAMETHASONE PHOSPHORIC ACID, DEXAMETHASONE SODIUM PHOSPHATE, TRENONACOG ALFA

Tem tratamento?

4 medicamentos registrados
Ver detalhes, fases e interações →
DEXAMETHASONE PHOSPHORIC ACIDDEXAMETHASONE SODIUM PHOSPHATETRENONACOG ALFABACLOFEN

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.4
Norway
Início
Childhood
+ infancy
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: G11.3
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
9 sintomas
🧬
Pele e cabelo
5 sintomas
🩸
Sangue
5 sintomas
📏
Crescimento
5 sintomas
🫁
Pulmão
4 sintomas
👁️
Olhos
4 sintomas

+ 32 sintomas em outras categorias

Características mais comuns

100%prev.
Início na infância
Frequência: 2/2
100%prev.
Infecções recorrentes do trato respiratório inferior
Frequência: 2/2
100%prev.
Disartria
Frequente (79-30%)
100%prev.
Ataxia
Muito frequente (99-80%)
100%prev.
Telangiectasia conjuntival
Frequência: 2/2
100%prev.
Alfa-fetoproteína elevada
Frequência: 2/2
75sintomas
Muito frequente (29)
Frequente (18)
Ocasional (5)
Muito raro (1)
Sem dados (22)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 75 características clínicas mais associadas, ordenadas por frequência.

Início na infânciaChildhood onset
Frequência: 2/2100%
Infecções recorrentes do trato respiratório inferiorRecurrent lower respiratory tract infections
Frequência: 2/2100%
DisartriaDysarthria
Frequente (79-30%)100%
Ataxia
Muito frequente (99-80%)100%
Telangiectasia conjuntivalConjunctival telangiectasia
Frequência: 2/2100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico8.064PubMed
Últimos 10 anos200publicações
Pico2026105 papers
Linha do tempo
2026Hoje · 2026🧪 2002Primeiro 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

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

ATMSerine-protein kinase ATMDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor (PubMed:10550055, PubMed:10839545, PubMed:10910365, PubMed:12556884, PubMed:14871926, PubMed:15064416, PubMed:15448695, PubMed:15456891, PubMed:15790808, PubMed:15916964, PubMed:17923702, PubMed:21757780, PubMed:24534091, PubMed:35076389, PubMed:9733514). Recognizes the substrate c

LOCALIZAÇÃO

NucleusCytoplasmic vesicleCytoplasm, cytoskeleton, microtubule organizing center, centrosomePeroxisome matrix

VIAS BIOLÓGICAS (5)
DNA Damage/Telomere Stress Induced SenescenceSensing of DNA Double Strand BreaksTP53 Regulates Transcription of DNA Repair GenesMeiotic recombinationRegulation of HSF1-mediated heat shock response
MECANISMO DE DOENÇA

Ataxia telangiectasia

A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.

OUTRAS DOENÇAS (9)
ataxia telangiectasiaATM-related cancer predispositionfamilial colorectal cancer type XB-cell chronic lymphocytic leukemia
HGNC:795UniProt:Q13315

Medicamentos e terapias

DEXAMETHASONE PHOSPHORIC ACIDPhase 3

Mecanismo: Glucocorticoid receptor agonist

DEXAMETHASONE SODIUM PHOSPHATEPhase 3

Mecanismo: Glucocorticoid receptor agonist

TRENONACOG ALFAPhase 2

Mecanismo: Coagulation factor IX exogenous protein

BACLOFENPhase 0.5

Mecanismo: GABA-B receptor agonist

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

9,220 variantes patogênicas registradas no ClinVar.

🧬 ATM: NM_000051.4(ATM):c.3308_3309del (p.Asp1103fs) ()
🧬 ATM: NM_000051.4(ATM):c.2374A>T (p.Lys792Ter) ()
🧬 ATM: NM_000051.4(ATM):c.7368dup (p.Glu2457fs) ()
🧬 ATM: NM_000051.4(ATM):c.4173_4174delinsTTTA (p.Tyr1392fs) ()
🧬 ATM: NM_000051.4(ATM):c.843_846del (p.Glu281fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 15,523 variantes classificadas pelo ClinVar.

1552
10090
3881
Patogênica (10.0%)
VUS (65.0%)
Benigna (25.0%)
VARIANTES MAIS SIGNIFICATIVAS
ATM: NM_000051.4(ATM):c.574del (p.His192fs) [Pathogenic]
ATM: NM_000051.4(ATM):c.7628dup (p.Asn2543fs) [Pathogenic]
ATM: NM_000051.4(ATM):c.8987+6C>T [Uncertain significance]
ATM: NM_000051.4(ATM):c.6172T>C (p.Ser2058Pro) [Uncertain significance]
ATM: NM_000051.4(ATM):c.4405A>G (p.Ile1469Val) [Uncertain significance]

Vias biológicas (Reactome)

28 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

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 36
2Fase 27
1Fase 11
·Pré-clínico10
Medicamentos catalogadosEnsaios clínicos· 4 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Ataxia-telangiectasia

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

58 ensaios clínicos encontrados, 6 ativos.

Distribuição por fase
NCT05692596 · The Pancreas Interception Center (PIC) for Early Detection, …Ativo
NCT06673056 · A Pivotal Study of N-Acetyl-L-Leucine on Ataxia-Telangiectas…Ativo
PHASE3
NCT04870866 · NAD Supplementation to Prevent Progressive Neurological Dise…Ativo
PHASE2
NCT07499999 · Randomized Double-Blind Phase II Trial of Baby Exemestane Ve…Em breve
PHASE2
NCT07215416 · Safety and Efficacy of Mutation-targeted Precision Genetic T…Em breve
PHASE1, PHASE2
NCT03759678 · N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)Encerrado
PHASE2
NCT06664853 · Open-Label Extension of EryDex Study IEDAT-04-2022Encerrado
PHASE3
NCT07380165 · Expanded Access Program (EAP) of Levacetylleucine for Ataxia…AVAILABLE
NCT06193200 · Evaluate the Neurological Effects of EryDex on Subjects With…Concluído
PHASE3
NCT03563053 · Extension Treatment Using EryDex System in Patients With AT …Encerrado
PHASE3
NCT06324877 · Ataxia-telangiectasia: Treating Mitochondrial Dysfunction Wi…UNKNOWN
NA
NCT05252819 · Whole Body MRI for Cancer Surveillance in A-TConcluído
NCT05692622 · Home-based Complex Intervention for Children With Ataxia Tel…UNKNOWN
NA
NCT04513002 · Ataxia-telangiectasia: Treating Mitochondrial Dysfunction Wi…Concluído
PHASE2
NCT05531890 · Comparative Bioavailability of Betamethasone Oral Solution M…UNKNOWN
PHASE1
NCT03962114 · Effects of Vitamin B3 in Patients With Ataxia TelangiectasiaConcluído
PHASE2
NCT05471310 · Videoocular Assessment of Eye Movement Activity in an Ataxia…Concluído
NCT04991701 · A National Retrospective Population Based Cohort Study of th…UNKNOWN
NCT04037189 · Treatment of Leukemia and Lymphoma in Children With Ataxia T…UNKNOWN
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

🥈Melhor nível de evidência: Ensaio clínico
Timeline de publicações
3.110 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 3.110

#1

IFI16 is essential to linking DNA damage and ferroptosis in acute kidney injury.

Cell death &amp; disease2026 Mar 23

Prezado(a) usuário(a), Primeiramente, é importante esclarecer que, embora o termo "Ataxia-telangiectasia mutated (ATM)" apareça no artigo como parte de uma via de sinalização, este estudo não é focado na doença genética Ataxia-telangiectasia em si, mas sim na Lesão Renal Aguda (LRA). Aqui está o resumo focado na LRA, relevante para pacientes e médicos: Este artigo revela que a proteína IFI16 está elevada na Lesão Renal Aguda (LRA) e desempenha um papel crucial ao ligar o dano ao DNA à ferroptose – um tipo de morte celular – nas células renais. A IFI16 ativa uma via de sinalização que leva à peroxidação lipídica e acúmulo de ferro, causando a morte das células renais, o que agrava a LRA. Essa descoberta é de grande importância para pacientes e médicos, pois identifica a IFI16 como um alvo terapêutico promissor para novas estratégias de tratamento e prevenção da Lesão Renal Aguda.

🇧🇷 traduzido
#2

Berzosertib enhances the sensitivity of pediatric diffuse midline glioma H3K27-altered cells to radiotherapy.

Cell death &amp; disease2026 Mar 20

Este estudo pré-clínico aborda o glioma difuso de linha média (DMG), um câncer cerebral pediátrico fatal, para o qual a radioterapia é o principal tratamento, mas com resultados limitados. A pesquisa identificou que o berzosertib, um medicamento que inibe a proteína ATR (relacionada à Ataxia-telangiectasia e essencial na resposta ao dano de DNA), aumenta significativamente a sensibilidade das células de DMG à radioterapia. Isso sugere uma nova e promissora estratégia para pacientes e médicos: a combinação de inibidores de ATR, como o berzosertib, com a radioterapia pode potencializar a eficácia do tratamento e melhorar o prognóstico desta doença devastadora.

🇧🇷 traduzido
#3

Microenvironmental acidosis drives PARP- and ATM inhibitor resistance in p53 deficient pancreatic cancer.

iScience2026 Mar 20

Este estudo mostra que, no câncer de pâncreas com deficiência da proteína p53, um ambiente tumoral ácido cria resistência a tratamentos que inibem as proteínas ATM e PARP, sendo a ATM a proteína afetada na Ataxia-telangiectasia. Essa acidez ajuda as células cancerosas a manterem seu pH interno, dificultando a ação dos medicamentos. Para pacientes com câncer de pâncreas deficiente em p53, a pesquisa sugere que combinar inibidores de ATM/PARP com medicamentos que regulam o pH das células tumorais pode ser uma estratégia promissora para superar essa resistência e melhorar a eficácia do tratamento.

🇧🇷 traduzido
#4

Serum alpha fetoprotein in Ataxia Telangiectasia: New lessons about an old biomarker.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society2026 Mar 04

Este estudo detalha a utilidade da alfa-fetoproteína (AFP) como biomarcador para a Ataxia-Telangiectasia (A-T), uma doença neurodegenerativa rara. Revelou que, embora a AFP seja um indicador diagnóstico e seus níveis geralmente aumentem progressivamente com a idade na A-T clássica (atingindo um platô por volta dos 18 anos), é crucial que pacientes e médicos saibam que os níveis podem estar normais nos primeiros dois anos de vida. Contudo, após os 3 anos (na A-T clássica) e em pacientes com A-T variante, níveis normais de AFP foram incomuns. Assim, o monitoramento da AFP é valioso tanto para o diagnóstico (com cautela na primeira infância) quanto para acompanhar a progressão da doença e avaliar a eficácia de futuras terapias.

🇧🇷 traduzido
#5

Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis.

Frontiers in pediatrics2026

Este caso descreve uma complicação rara e grave em pacientes com Ataxia-telangiectasia (AT): a cistite hemorrágica severa, associada a telangiectasias na bexiga e possivelmente exacerbada por quimioterapia, como a ciclofosfamida. Para pacientes e médicos, é crucial estar ciente deste risco tardio e potencialmente fatal. A cistoscopia é essencial tanto para o diagnóstico preciso quanto para o tratamento endoscópico eficaz, permitindo o controle da hemorragia.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMC2.720 artigos no totalmostrando 199

2026

IFI16 is essential to linking DNA damage and ferroptosis in acute kidney injury.

Cell death &amp; disease
2026

The Effect of AZD5153 on Radiosensitivity in Pancreatic Cancer Cells Through ATM-chk1 Pathway.

Drug design, development and therapy
2026

Aptamer-functionalized exosomes combined with doxorubicin suppress GBM progression and enhance chemoradiosensitivity by promoting pyroptosis.

Materials today. Bio
2026

Berzosertib enhances the sensitivity of pediatric diffuse midline glioma H3K27-altered cells to radiotherapy.

Cell death &amp; disease
2026

Discovery of GBA-16-24 as a highly potent, selective ATR inhibitor for the treatment of FLT3-mutated acute myeloid leukemia.

RSC medicinal chemistry
2026

Microenvironmental acidosis drives PARP- and ATM inhibitor resistance in p53 deficient pancreatic cancer.

iScience
2026

Richard Gatti: From concert pianist to bone marrow transplants and the DNA damage response syndrome, ataxia-telangiectasia.

DNA repair
2026

Genomic Features and Response to Poly(ADP-ribose) Polymerase Inhibition in Metastatic Castration-Resistant Prostate Cancer.

JCO precision oncology
2026

Discovery of dihydrospiro[cyclopropane-1,7'-pyrrolo[3,4-d]pyrimidine] derivatives as novel ATR inhibitors.

RSC medicinal chemistry
2026

Serum alpha fetoprotein in Ataxia Telangiectasia: New lessons about an old biomarker.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2026

Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis.

Frontiers in pediatrics
2026

Rethinking Corticosteroid Therapy in Pediatric Neurology.

Journal of inflammation research
2026

Hepatitis C Virus Core Induces p53 Ser-15 Phosphorylation to Facilitate E6-Associated Protein-Mediated Proteasomal Degradation of p53.

Cells
2026

ATR Blockade Potentiates the Effects of Genotoxic Agents In Vitro and Promotes Antitumor Immunity in a Mouse Model of Non-Small Cell Lung Cancer.

Cancers
2026

POLQ promotes tumor progression and immunosuppression via ATM‑P53 signaling in endometrial cancer.

Oncology reports
2026

A phase 1 study of berzosertib (M6620, VX-970) in combination with cisplatin and radiation in patients with locally advanced head and neck squamous cell carcinoma (ETCTN 9950).

Cancer
2026

cGAS/STING-mediated upregulation of NKG2D ligands in LSCs contributes to enhanced sensitivity to NK cells.

Frontiers in oncology
2026

Therapy With Doxycycline and Hydroxychloroquine Enables Surgical Excision of Ulcerated Cutaneous Granulomas in a Patient With Ataxia Telangiectasia.

Pediatric dermatology
2026

Next Generation DNA Damage Response Inhibitors: Harnessing Nanocarriers and Tumor Microenvironment for Precision Cancer Therapy.

Oncology research
2026

Prognostic Significance of DNA Repair Gene mRNA Expression in Early-Stage Breast Cancer: Insights into Clinical Relevance.

Oncology research
2026

Physalin A interferes with cell cycle in human oral squamous carcinoma cells via DNA topoisomerase II/ATM/ATR/Chk signaling for G2/M phase arrest.

Archives of biochemistry and biophysics
2026

Differential modulation of haematopoietic and oxidative injury by PARP-1 and ATR kinase inhibition in a murine model of acute irradiation.

PloS one
2025

ZFP161 promotes colorectal cancer progression by transcriptionally activating c-MYC.

Frontiers in oncology
2026

Inhibition of Autophagy Reveals ATR Protein Kinase as a Key Mediator of Cisplatin Sensitivity in Osteosarcoma.

Cancer medicine
2026

Design and Synthesis of Pyrrolo[3,4-d]pyrimidine-Based ATR Degraders for Effective Treatment of Colorectal Cancer in Mouse Model.

Journal of medicinal chemistry
2026

Targeting ATR in Cancer therapy: A drug discovery perspective.

Bioorganic chemistry
2026

Molecular Effect of Tobacco on Genetic, Epigenetic, and Metabolic Pathways During Cancer Progression.

Cureus
2026

Targeting the FNIP2-SERCA2b axis improves metabolic and mitochondrial defects in Ataxia Telangiectasia.

Cell death &amp; disease
2026

GPI inactivation mediates pentose phosphate pathway flux switch-on inducing temozolomide resistance in glioma stem cell.

Cancer letters
2026

Neonatal Hyperoxia Induces Metabolic Reprogramming in Senescent Alveolar Macrophages, Leading to Persistent Lung Injury.

Frontiers in bioscience (Landmark edition)
2026

Dysregulation of the DNA damage response by phosphorothioate antisense oligonucleotides.

Nature communications
2026

BRAT1 gene compound heterozygous mutations causing lethal neonatal rigidity and multifocal seizure syndrome: a case report.

Frontiers in pediatrics
2026

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.

Frontiers in immunology
2026

Esophageal Cancer Cells Exhibit Heterogeneity in DNA Double-Strand Break Repair and G2/M Checkpoint Arrest Associated With Cell Viability After Ionizing Radiation.

Advances in radiation oncology
2026

Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.

Journal of inherited metabolic disease
2026

Endogenous inhibitors of PP2A activate oncogenic and DNA damage response kinases in glioblastoma.

Cancer letters
2026

All-trans retinoic acid enhances the anti-angiogenic effects of hemoporfin-mediated photodynamic therapy via the ATM-SerRS-VEGFA axis in endothelial cells.

Photodiagnosis and photodynamic therapy
2026

Large-scale mapping of environmental-genetic interactions illustrates the dynamic nature of cell-cycle and DNA repair regulation.

Molecular cell
2026

Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.

Journal of translational medicine
2026

Analysis of the regulation of model parameters on delay time in the p53 dynamical response to single-stranded breaks.

Journal of bioinformatics and computational biology
2026

Incorporating Patient Perspectives into a Composite Score for Measuring Disease Progression in Spinocerebellar Ataxia (SCA).

Neurology and therapy
2026

Computational and Experimental Verification of Cabozantinib Targeting DDX11 to Inhibit DNA Damage Repair in Liver Cancer.

ACS omega
2026

Malignancies in the context of Inborn errors of immunity: an immunologist's view.

Expert review of clinical immunology
2026

Energetically equivalent structural transitions in the Rad17-Rad9-Hus1-Rad1-Rhino complex underlie the sequential progression from activation through maintenance to inactivation of the ATR-dependent DNA damage response.

Nucleic acids research
2026

M1C mediates LINE-1 transcription in PARP inhibitor-treated prostate cancer cells.

Cancer letters
2026

Rewiring melanoma cell fate: TRPM8 modulators trigger apoptosis and boost NK cell cytotoxicity.

Cell death &amp; disease
2026

Targeting ATR-CHK1 and ATM-CHK2 Axes in Pancreatic Cancer-A Comprehensive Review of Literature.

International journal of molecular sciences
2026

RAD51 succinylation regulates homologous recombination and contributes to the chemosensitivity in cancer.

Molecular cell
2026

Comparing and combining xevinapant with ATR and PARP inhibition for the radiosensitization of HPV-negative HNSCC cells.

Scientific reports
2026

Ataxia-telangiectasia in pediatric neurology clinics: A retrospective multicenter study.

Pediatrics international : official journal of the Japan Pediatric Society
2026

Ataxia-telangiectasia mutated kinase inhibition overcomes gemcitabine resistance in intrahepatic cholangiocarcinoma via DNA ligase I-dependent repair vulnerability.

Cancer gene therapy
2026

Evaluation of protein expression and oxidative stress index in Duchenne muscular dystrophy.

Pediatric research
2026

ATM Inhibition Enhances Knock-in Efficiency by Suppressing AAV-Induced Activation of Apoptotic Pathways.

Communications biology
2026

Targeting ATR signaling in sarcoma with homologous recombination deficiency.

Cancer letters
2026

Targeting Galectin-9 to overcome immunosuppression and potentiate ATR inhibitor therapy.

Cancer letters
2026

Immunotherapy response in microsatellite-stable poorly differentiated thyroid carcinoma with mismatch repair deficiency and high tumor mutational burden.

Archives of endocrinology and metabolism
2026

Orthogonally targeted tumor radiosensitization using cell penetrating peptide-ATM inhibitor conjugates to stimulate anti-tumor immune responses.

bioRxiv : the preprint server for biology
2026

[Homologous recombination repair gene variants in hormone-sensitive prostate cancer].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2026

Precise control of transcription condensates across S phase balances linker histone expression with DNA replication, ensuring genome stability.

Molecular cell
2026

DGCR8 regulates multiple processes of transcription coupled nucleotide excision repair.

Scientific reports
2026

RPA-independent activation of the ATR/CHK1 pathway.

Proceedings of the National Academy of Sciences of the United States of America
2026

Novel radiation-activated N-oxide prodrugs for highly selective and synergistic tumor therapy to promote DNA damage and the ATM/ATR pathway.

Chemical communications (Cambridge, England)
2026

The crosstalk between chaperone-mediated autophagy and apoptosis via ATM/p53-mitochondria-dependent signaling contributed to ischemia-induced cerebral injuries.

Experimental neurology
2026

Activation of the ATM-Chk2 DNA damage response pathway by Newcastle disease virus enhances viral replication.

Veterinary research
2026

ATR inhibitors: from targeting the DNA damage response to exploiting synthetic lethality-A paradigm shift in Cancer therapy.

Bioorganic chemistry
2026

Hypoxia facilitates triple-negative breast cancer stem cells enrichment and stemness maintenance through oxidized ataxia telangiectasia mutated-induced one-carbon metabolism.

World journal of stem cells
2026

Recent advances in small molecule ATR kinase inhibitors as anticancer agents.

Future medicinal chemistry
2025

Novel Ataxia Telangiectasia and Rad3-Related Protein (ATR) Phenotype: Marfanoid Appearance, Generalized Hypermobility, Gait Imbalance, and Poor Wound Healing: A Case Report.

Cureus
2026

Daxx-Dependent H3.3 Deposition Promotes Double-Strand Breaks Repair by Homologous Recombination.

Cells
2026

Chloroquine Potentiates the Chemotherapeutic Effect of Carboplatin and ATR/Chk1 Inhibitors by Increasing the Replication Stress.

International journal of molecular sciences
2026

Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants.

International journal of molecular sciences
2025

Prevalence and Clinical Associations of Germline DDR Variants in Prostate Cancer: Real-World Evidence from a 122-Patient Turkish Cohort.

Genes
2026

Transcriptional Profiling Reveals Lineage-Specific Characteristics in ATR/CHK1 Inhibitor-Resistant Endometrial Cancer.

Biomolecules
2025

Caffeine May Delay the Radiation-Induced Nucleoshuttling of the ATM Kinase and Reduce the Recognition of the DNA Double-Strand Breaks in Human Cells.

Biomolecules
2026

The multifaceted role of antimicrobial peptides in neurodegeneration: Insights from Drosophila and beyond.

Advances in protein chemistry and structural biology
2026

Ex Vivo Immuno-Oncology Platform Reveals Spatial T Cell Infiltration Patterns Linked to ATR Inhibition Responses in High-Grade Serous Ovarian Cancer.

Cancer immunology research
2026

Camonsertib, an ATRi, in Combination with Low-Dose Gemcitabine in Solid Tumors with DNA Damage Response (DDR) Aberrations: Preclinical and Phase 1b Results.

Clinical cancer research : an official journal of the American Association for Cancer Research
2026

REV7 associates with ATRIP and inhibits ATR kinase activity.

Nucleic acids research
2026

Increased sensitivity of etoposide-treated breast cancer cells with an ATM inhibitor.

PloS one
2026

Call for action: misinformation about Tourette syndrome from major media network.

European child &amp; adolescent psychiatry
2026

Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.

Acta neuropathologica
2026

Loss of ATM causes R-loop-associated transcriptional dysregulation and attenuates the related response to DNA damage.

The Journal of biological chemistry
2026

Olaparib in Patients With Solid Tumors With ATM Alterations: Results From the Targeted Agent and Profiling Utilization Registry (TAPUR) Study.

JCO precision oncology
2026

Pathway for the Development of ATR Inhibitors in Pediatric Malignancies: An ACCELERATE Multistakeholder Analysis.

JCO precision oncology
2026

Visualization and quantification of rDNA instabilities in mammalian cells and mouse models.

Nucleic acids research
2026

ATM kinase phosphorylates HSP90 on T297 changing its conformation dynamics and promoting its interaction with HER2 receptor tyrosine kinase.

Biochimica et biophysica acta. Molecular cell research
2026

HMGB1 Assists in Overcoming Cisplatin Resistance in Chemoresistant Human Ovarian Cancer Cells.

Molecular carcinogenesis
2026

The FANCD2-FANCI heterodimer coordinates chromatin openness and cell cycle progression throughout DNA double-strand break repair.

Cell reports
2026

MRE11 deacetylation by SIRT2 promotes DNA binding to facilitate DNA end resection and ATM-dependent signaling.

The Journal of clinical investigation
2025

Genetic Regulation of DNA Double-Strand Breaks and Repair Pathways.

Frontiers in bioscience (Scholar edition)
2026

Recent development of ATR inhibitors for cancer therapy.

European journal of medicinal chemistry
2026

Differential roles of type I topoisomerases in regulating HPV pathogenesis.

Proceedings of the National Academy of Sciences of the United States of America
2025

Replication-associated base excision repair/single-strand break repair regulates PARG inhibitor response via the PRMT1/PRMT5/ATR axis.

NAR cancer
2026

ISG15 dysregulates endoplasmic reticulum-mitochondrial contacts and calcium homeostasis in Ataxia telangiectasia.

Cellular signalling
2025

Translational Aspects of DNA Damage Repair in Optimizing Cancer Chemotherapy.

Advanced genetics (Hoboken, N.J.)
2025

Progressive cerebellar ataxia with extensive peripheral telangiectasias in ataxia-telangiectasia.

BMJ case reports
2026

Phosphoregulation for Therapeutic Interventions in Cancer? Phosphoregulatory Map of Checkpoint Kinase 1 (CHK1) Uncovers Unexplored Regulatory Layers.

Omics : a journal of integrative biology
2025

Stem cell models in ataxia-telangiectasia.

Neural regeneration research
2025

Paclitaxel-Loaded Polyelectrolyte Nanocarriers: Uptake Mechanisms, Cytotoxicity, and Genotoxicity in Human Endothelial and Breast Cancer Cells.

Nanotechnology, science and applications
2025

A 10-Year-Old Boy With Ataxia-Telangiectasia: A Rare Case Report From Yemen.

Clinical medicine insights. Case reports
2025

Rb1 deficiency induces synthetic lethality with ATR and PKMYT1 coinhibition in breast cancer cell lines and patient-derived xenografts.

Science translational medicine
2025

A Novel ATRIP Mutation Detected in an Iranian Family with Familial Clustering of Breast Cancer: A Case Report.

Current oncology (Toronto, Ont.)
2026

Enhanced ELL Phase Separation Is Crucial for Efficient DNA Damage Repair to Restart Transcription and Cell Survival.

Molecular and cellular biology
2026

A phase II, multicenter, open-label, single-arm study of berzosertib plus topotecan in patients with relapsed platinum-resistant small-cell lung cancer (DDRiver SCLC 250).

ESMO open
2025

Defects in DNA damage signaling and cell cycle checkpoints in a mouse model of Rhno1 deletion.

Cell death discovery
2025

ATM interaction with GRP94 modulates oncogenic receptor expression and signaling and microglial activation.

Proceedings of the National Academy of Sciences of the United States of America
2025

The ATR inhibitor tuvusertib (M1774) sensitizes prostate carcinoma to natural killer cell-mediated cytotoxicity, which is further augmented by the IL-15 receptor superagonist N-803.

Cancer immunology, immunotherapy : CII
2025

TNXB modulates radiosensitivity of esophageal cancer through the ATM/P53 pathway.

American journal of translational research
2026

RB dependent transcriptional regulation at mitotic centromeres preserves genome stability.

Life science alliance
2025

The efficacy and safety of ATR inhibitors in the treatment of solid tumors: a systematic review and meta-analysis.

Frontiers in oncology
2025

Auranofin attenuates TOPBP1-mediated ATR replication stress response and improves chemotherapeutic response in breast tumor models.

The Journal of clinical investigation
2026

Small intestinal SMARCA4-deficient undifferentiated carcinoma with intussusception: A case report.

Oncology letters
2025

Targeting synthetic lethality: an effective therapeutic approach in ovarian and endometrial cancers.

Therapeutic advances in medical oncology
2025

A Parent's Perspective on Systemic Gaps in Supporting Complex Pediatric Care at Home.

Journal of patient experience
2025

ATR&RNASEL germline variants: novel findings in a case of familial cancer.

Molecular genetics and genomics : MGG
2025

NRF1-mediated innate immune response drives inflammaging.

Nature communications
2025

Ferroptosis at the intersection of radiotherapy and immunotherapy.

Cancer metastasis reviews
2025

Ataxia-telangiectasia mutated activation mediates transforming growth factor beta signaling in acetaminophen-induced liver injury in mice.

Physiological reports
2025

Comparative analysis of molecular targeted radiosensitizers in 2D and 3D cancer cell line models.

Acta oncologica (Stockholm, Sweden)
2025

Ceralasertib, an ATR kinase inhibitor, as monotherapy in Japanese patients with advanced solid malignancies: Results from a phase 1 study.

Investigational new drugs
2025

Manganese mediates antiviral effects by driving an ATM -TBK1 phosphorylation signaling pathway.

Frontiers in immunology
2025

NCI 10211: a phase II, single-arm study of berzosertib in combination with irinotecan in patients with advanced TP53 mutant gastroesophageal cancer.

The oncologist
2025

Inhibiting sirtuin-dependent DNA repair and oxidative stress responses impairs DIPG cell survival.

Research square
2025

Nuclear actin and DNA replication stress regulate telomere maintenance by telomerase.

Nature communications
2025

Attenuation of ATM signaling by ROS delays replicative senescence at physiological oxygen.

Molecular cell
2025

Immunodeficiency and hemolytic uremic syndrome: a case report.

The Turkish journal of pediatrics
2025

ATM promotes bone metastatic propensity of breast cancer by inducing osteoclastogenesis via the NFκB-CCL2 pathway.

Acta pharmacologica Sinica
2025

Hepatitis B viral DNA integration occurs within three days of infection and is enhanced by ATR inhibition.

Tumour virus research
2025

When the unexpected strikes: hepatocellular carcinoma in a teen with ataxia-telangiectasia.

Oxford medical case reports
2025

Aurora kinase B phosphorylates ZBP1 to drive PANoptosis following treatment with PARP and ATR inhibitors combination.

Nature communications
2025

Rare Genetic Variants Underlying Primary Immunodeficiency: Clinical, Pulmonary, and Genetic Insights from Two Pediatric Cases.

Genes
2026

Clinical and molecular variations in Burkitt lymphoma.

Translational oncology
2025

Identifying Distinct Tourette Disorder Subtypes using Clinical Data.

medRxiv : the preprint server for health sciences
2025

TIPIN coordinates ATM-dependent checkpoint and NF-κB signaling to counteract DNA replication damage from topoisomerase inhibition.

Communications biology
2025

Computational modeling of ATM signaling: a predictive framework for drug repurposing in ataxia-telangiectasia.

NPJ systems biology and applications
2025

ATR, a DNA damage kinase, modulates DNA replication timing in Leishmania major.

PLoS genetics
2025

ATM promotes reversed fork processing during DNA interstrand cross-link repair.

bioRxiv : the preprint server for biology
2025

AtMCM10 facilitates SDSA-mediated intermolecular homologous recombination repair via liquid-liquid phase separation in DNA damage response.

Nature communications
2025

Ataxia Telangiectasia Mutated (ATM) gene alterations as biomarkers of response to immune checkpoint inhibitors.

Immunotherapy
2025

PARP inhibitor BMN673 triggers PARylation-mediated ATF4-GDF15 pathway to drive autophagy and ferroptosis in ataxia telangiectasia mutated gene-deficient colorectal cancer cells.

Molecular biomedicine
2025

Nuclear DAB2IP regulates DNA replication initiation through activating PLK1-mediated HBO1 phosphorylation.

Nucleic acids research
2026

Beyond the nucleus: the ATM-CHEK2 axis senses mtROS to orchestrate mitophagy.

Autophagy
2025

Targeting DNA Damage Repair Pathways Beyond PARP Inhibition.

Targeted oncology
2025

E0703 targets ERβ to facilitate the upregulation of GLI3, thereby alleviating irradiation-induced DNA damage on lymphocytes.

Cellular &amp; molecular biology letters
2025

Proteomic sensors for quantitative multiplexed and spatial monitoring of kinase signaling.

Nature communications
2026

Ultra-low background radiation inhibits head and neck tumor via ATM downregulation mediated mitochondrial dysfunction.

Cancer letters
2026

Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.

The Journal of pathology
2025

Feedforward miR-181d degradation modulates population variance of methyl-guanine methyl transferase and temozolomide resistance.

Cell reports
2026

Recent progress in developing ATR inhibitors as anticancer agents.

Biochemical pharmacology
2025

Phase Ib study of berzosertib, carboplatin, gemcitabine, and pembrolizumab in patients with squamous nonsmall lung cancer (ETCTN 10313).

The oncologist
2025

The Relationship Between Insulin Resistance and Cancer in Humans.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
2026

The role of ATM in sodium butyrate-mediated inhibition of macrophage polarization.

Biochimica et biophysica acta. General subjects
2025

WDFY2 promotes MRN complex formation required for homologous recombination-mediated DNA repair.

Cell reports
2025

Functional genomics and tumor microenvironment analysis reveal prognostic biological subtypes in Mantle cell lymphoma.

Nature communications
2025

Shining light on drug discovery: optogenetic screening for TopBP1 biomolecular condensate inhibitors.

NAR cancer
2026

Molecular Analysis through Whole Exome Sequencing in Ataxia Telangiectasia Patients: Beyond ATM.

Movement disorders clinical practice
2025

Dual inhibition of ATR and PARP reverses acquired PARP inhibitor resistance in triple negative breast cancer.

Discover oncology
2025

Melatonin inhibits ferroptosis in myocardial ischemia/reperfusion injury by inhibiting the ATM/p53 signaling pathway.

Redox report : communications in free radical research
2025

Negative feedback regulation of CHK2 in VIN18 raft cultures naturally infected with HPV18.

Virus research
2026

Targeting the ATM-TGS1-BRCA1 Axis Overcomes Genotoxic Therapy Resistance in Pancreatic Adenocarcinoma.

Cancer research
2025

Characteristics of Secondary Malignancy Among Children With Primary Immunodeficiency Disorders in Saudi Arabia.

Cureus
2026

Five Years of Combined Newborn Screening Quantifying TREC and KREC in Switzerland.

The journal of allergy and clinical immunology. In practice
2026

Lnk deficiency enhances translesion synthesis to alleviate replication stress and promote hematopoietic stem cell fitness.

The Journal of clinical investigation
2025

Association of DDR pathway proteins and breast cancer risk in a Pakistani population.

Future oncology (London, England)
2025

Defect of MLH1 expression sensitized esophageal squamous cell carcinoma cells to Polθ inhibitor.

Epigenomics
2025

Environmental chromium and cadmium co-exposure induces GADD45A-mediated rDNA instability in human cohorts and cell models.

Chemico-biological interactions
2025

Phase 1 clinical trial of the ataxia telangiectasia and Rad3-related inhibitor berzosertib with irinotecan in patients with advanced solid tumors (ETCTN 9938).

Cancer
2025

Lets talk about ataxia-telangiectasia: Meeting report of the AT clinical research conference June 2025.

DNA repair
2025

H2BK120ub and its reader RNF169 sequentially regulate replication fork remodeling and stability.

The EMBO journal
2026

Chinese herbal prescription JZ-1 enhances host resistance to herpes simplex virus type 2 through regulating the MRN-ATM-CHK2 DNA damage response.

Journal of ethnopharmacology
2025

C1orf116 inhibits acquired resistance to EGFR inhibitors in EGFR mutant lung adenocarcinoma by suppressing the ATM/ATR pathways.

Translational lung cancer research
2025

Diversity of oxidative stress and senescence phenotypes induced by chemotherapeutic agents in HUVECs.

Scientific reports
2025

Alpha-ketoglutarate mitigates insulin resistance and metabolic inflexibility in a mouse model of Ataxia-Telangiectasia.

Nature communications
2025

Phosphorylation of RNF213 by ATM-mediated ubiquitination of RPA1 regulates homologous recombination repair and chemosensitivity.

Cell death &amp; disease
2025

TopBP1 biomolecular condensates as a new therapeutic target in advanced-stage colorectal cancer.

eLife
2025

ZDHHC20-mediated S-palmitoylation of KAP1/TRIM28 promotes DNA damage repair.

Oncogene
2025

Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report.

BMC medical genomics
2025

The ATR Inhibitor Elimusertib in Combination with Cisplatin in Patients with Advanced Solid Tumors: A California Cancer Consortium Phase I Trial (NCI 10404).

Cancer research communications
2025

Ataxia-Telangiectasia in Resource-Limited Settings: A Diagnostic Challenge.

Cureus
2025

Senataxin promotes recombination fidelity during antigen receptor gene diversification.

Science signaling
2025

Impact of SAMHD1 and phosphorylated ATM levels on the progression and prognosis of patients with soft tissue sarcoma.

Oncology letters
2025

Differential expression of a disease-associated MRE11 variant reveals distinct phenotypic outcomes.

Human molecular genetics
2025

Targeting the ATM-TRMT10A-BRCA1 axis confers synthetic lethality to PARP inhibition in metastatic castration-resistant prostate cancer.

Science advances
2025

Pathogenic Variants, Family History, and Cumulative Risk of Breast Cancer in US Women.

JAMA oncology
2025

Mapping the non-coding RNA landscape in ataxia telangiectasia: a scoping review of ATM dependent miRNA and lncRNA dysregulation.

Molecular biology reports
2025

Prolactin and DNA damage trigger an anti-breast cancer cell immune response.

Frontiers in endocrinology
2025

Allium sativum lectin as an immunotherapeutic agent: Eliciting IFN-γ production via "M1" macrophage polarization to trigger JAK1/STAT1 and DDR mediated lung cancer cell death.

International journal of biological macromolecules
2026

Quantitative digital pathology reveals morphological and molecular correlates of tumor aggressiveness in prostate cancer.

International urology and nephrology
2025

Anti-colorectal cancer bioactive metabolites from endophytic fungi of Pyrola spp. targeting p-ATM/P53 pathway driven by in vitro experiments and network pharmacology.

Fitoterapia
2025

Modelling-filtered drug repurposing and first-in-protein SPR validation of histone deacetylase 4 inhibitors for Ataxia-telangiectasia.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2025

Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes.

Orphanet journal of rare diseases
2025

Cell death mechanisms induced by gold nano-immunoconjugates-mediated photodynamic therapy against human oesophageal cancer stem cells.

Frontiers in immunology
2025

IFI16 Enhances Chemosensitivity of Breast Cancer Cells by Inhibiting DNA Damage Response.

Biomolecules &amp; therapeutics
2025

Nucleolar stress facilitates islet β cell senescence via hijacking the DNA damage response pathways.

iScience
2025

Mitochondrial ROS triggers mitophagy through activating the DNA damage response signaling pathway.

Proceedings of the National Academy of Sciences of the United States of America
2025

Fundamental prognostic difference of ATM gene mutation and deletion in newly diagnosed mantle cell lymphoma.

Molecular medicine (Cambridge, Mass.)
2025

Orthopedic manifestations of ataxia telangiectasia in children.

Journal of pediatric orthopedics. Part B
2025

Mortality rate and causes of death in inborn errors of immunity: A systematic review and meta-analysis.

Mutation research. Reviews in mutation research
2025

DNA Damage and Repair in Ovarian Cancer: Focus on MicroRNAs.

Cancers
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Organizações que acompanham esta doença — pra ter apoio e orientação

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Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

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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. IFI16 is essential to linking DNA damage and ferroptosis in acute kidney injury.
    Cell death &amp; disease· 2026· PMID 41872158mais citado
  2. Berzosertib enhances the sensitivity of pediatric diffuse midline glioma H3K27-altered cells to radiotherapy.
    Cell death &amp; disease· 2026· PMID 41862449mais citado
  3. Microenvironmental acidosis drives PARP- and ATM inhibitor resistance in p53 deficient pancreatic cancer.
    iScience· 2026· PMID 41852733mais citado
  4. Serum alpha fetoprotein in Ataxia Telangiectasia: New lessons about an old biomarker.
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· 2026· PMID 41844009mais citado
  5. Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis.
    Frontiers in pediatrics· 2026· PMID 41837192mais citado
  6. Synergistic nanomedicine overcomes hypoxia-driven DNA repair to potentiate radiotherapy for lung adenocarcinoma.
    Theranostics· 2026· PMID 41993628recente
  7. Topoisomerase I inhibitor antibody-drug conjugates in breast cancer: the relevance of the DNA damage response to resistance, response, and combination treatment strategies.
    Breast Cancer Res Treat· 2026· PMID 41991718recente
  8. A dual role for cGAS in shaping cellular and organismal responses to genomic instability.
    Genes Dev· 2026· PMID 41980769recente
  9. ATR and PKMYT1 inhibition re-sensitize a subset of TNBC patient-derived models to carboplatin inducing mitotic catastrophe.
    Cancer Res Commun· 2026· PMID 41973002recente
  10. ATM inhibition restores IFN-γ sensitivity and induces ferroptosis in NSCLC via DNA damage response.
    Biochem Biophys Rep· 2026· PMID 41970632recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:100(Orphanet)
  2. OMIM OMIM:208900(OMIM)
  3. MONDO:0008840(MONDO)
  4. GARD:5862(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q387082(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

Ataxia-telangiectasia
Compêndio · Raras BR

Ataxia-telangiectasia

ORPHA:100 · MONDO:0008840
Prevalência
1-9 / 1 000 000
Herança
Autosomal recessive
CID-10
G11.3 · Ataxia cerebelar com déficit na reparação do DNA
CID-11
Ensaios
6 ativos
Medicamentos
4 registrados
Início
Childhood, Infancy
Prevalência
0.4 (Norway)
MedGen
UMLS
C0004135
EuropePMC
Wikidata
Wikipedia
Papers 10a
Evidência
🥈 Ensaio clínico
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