# Anemia de Fanconi > Página oficial: https://raras.org/doenca/anemia-de-fanconi > Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0) > Última atualização: 2026-05-07 ## Identificadores - **ORPHA**: 84 — https://www.orpha.net/en/disease/detail/84 - **CID-10**: D61.0 - **OMIM**: none — https://omim.org/entry/none ## Descrição clínica A anemia de Fanconi (FA) é uma doença hereditária da reparação do ADN caracterizada por pancitopenia progressiva com falência da medula óssea, malformações congénitas variáveis e predisposição para tumores hematológicos ou sólidos. ## Epidemiologia e herança - **Prevalência**: 1-9 / 100 000 - **Padrão de herança**: Autosomal recessive, X-linked recessive ## Sinais e sintomas (251 fenótipos HPO) - **Hipogonadismo** — HPO: HP:0000135 (Ocasional (29-5%)) - **Fosseta sacral** — HPO: HP:0000960 - **Dificuldade específica de aprendizagem** — HPO: HP:0001328 - **Sindactilia dos dedos 2-3** — HPO: HP:0001233 - **Pneumonia** — HPO: HP:0002090 - **Microfalos** — HPO: HP:0030260 - **Descolamento prematuro da placenta** — HPO: HP:0011419 - **Pâncreas anular** — HPO: HP:0001734 - **Hipotelorismo** — HPO: HP:0000601 - **Polidactilia pré-axial da mão** — HPO: HP:0001177 - **Duplicação renal** — HPO: HP:0000075 - **Polidrâmnio** — HPO: HP:0001561 - **Duplicação parcial da falange do polegar** — HPO: HP:0009944 - **Microtia** — HPO: HP:0008551 - **Ponte nasal ampla** — HPO: HP:0000431 - **Cunhamento anterior de T12** — HPO: HP:0011940 - **Talipes equinovarus bilateral** — HPO: HP:0001776 - **Pescoço alado** — HPO: HP:0000465 - **Transtorno do déficit de atenção com hiperatividade** — HPO: HP:0007018 - **Anotia** — HPO: HP:0009892 - **Sacro hipoplásico** — HPO: HP:0004590 - **Aplasia do útero** — HPO: HP:0000151 - **Dificuldades alimentares** — HPO: HP:0011968 - **Ponta nasal deprimida** — HPO: HP:0000437 - **Carcinoma de células escamosas** — HPO: HP:0002860 - **Vitiligo** — HPO: HP:0001045 - **Contratura em flexão** — HPO: HP:0001371 - **Mácula hipopigmentada** — HPO: HP:0020073 - **Infertilidade masculina** — HPO: HP:0003251 - **Palidez anêmica** — HPO: HP:0001017 - **Reticulocitopenia** — HPO: HP:0001896 - **Duplicação completa da falange do polegar** — HPO: HP:0009943 - **Fase G2 prolongada do ciclo celular** — HPO: HP:0003214 - **Nariz bulboso** — HPO: HP:0000414 - **Morfologia vertebral anormal** — HPO: HP:0003468 - **Hipoplasia do disco óptico** — HPO: HP:0007766 - **Asas nasais subdesenvolvidas** — HPO: HP:0000430 - **Má oclusão dentária** — HPO: HP:0000689 - **Dorso nasal proeminente** — HPO: HP:0000426 - **Neoplasia ovariana** — HPO: HP:0100615 - _...e mais 211 sintomas. Ver https://raras.org/doenca/anemia-de-fanconi._ ## Genes associados (23) - **BRIP1** — Fanconi anemia group J protein [Disease-causing germline mutation(s) in] - Função: DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of chromosomal stability (PubMed:11301010, PubMed:14983014, PubMed:16116421, PubMed:16153896, PubMed:17596542, PubMed:36608669) - **FAAP100** — Fanconi anemia core complex-associated protein 100 [Disease-causing germline mutation(s) (loss of function) in] - Função: Plays a role in Fanconi anemia-associated DNA damage response network. Regulates FANCD2 monoubiquitination and the stability of the FA core complex. Induces chromosomal instability as well as hypersen - **FANCL** — E3 ubiquitin-protein ligase FANCL [Disease-causing germline mutation(s) in] - Função: Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, - **FANCB** — Fanconi anemia group B protein [Disease-causing germline mutation(s) in] - Função: DNA repair protein required for FANCD2 ubiquitination - **FANCE** — Fanconi anemia group E protein [Disease-causing germline mutation(s) in] - Função: As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2 - **FANCD2** — Fanconi anemia group D2 protein [Disease-causing germline mutation(s) in] - Função: Required for maintenance of chromosomal stability (PubMed:11239453, PubMed:14517836). Promotes accurate and efficient pairing of homologs during meiosis (PubMed:14517836). Involved in the repair of DN - **RFWD3** — E3 ubiquitin-protein ligase RFWD3 [Disease-causing germline mutation(s) in] - Função: E3 ubiquitin-protein ligase required for the repair of DNA interstrand cross-links (ICL) in response to DNA damage (PubMed:21504906, PubMed:21558276, PubMed:26474068, PubMed:28575657, PubMed:28575658, - **ERCC4** — DNA repair endonuclease XPF [Disease-causing germline mutation(s) in] - Função: Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand - **SLX4** — Structure-specific endonuclease subunit SLX4 [Disease-causing germline mutation(s) in] - Função: Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of - **FANCF** — Fanconi anemia group F protein [Disease-causing germline mutation(s) in] - Função: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome - **RAD51C** — DNA repair protein RAD51 homolog 3 [Disease-causing germline mutation(s) in] - Função: Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or ind - **FANCA** — Fanconi anemia group A protein [Disease-causing germline mutation(s) in] - Função: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome st - **BRCA2** — Breast cancer type 2 susceptibility protein [Disease-causing germline mutation(s) in] - Função: Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by - **FANCC** — Fanconi anemia group C protein [Disease-causing germline mutation(s) in] - Função: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome - **BRCA1** — Breast cancer type 1 susceptibility protein [Disease-causing germline mutation(s) (loss of function) in] - Função: E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage (Pub ## Medicamentos em desenvolvimento (2) - FLUDARABINE PHOSPHATE — Fase Phase 2 (DNA polymerase (alpha/delta/epsilon) inhibitor) - METFORMIN — Fase Phase 2 (Mitochondrial complex I (NADH dehydrogenase) inhibitor) - Fonte: https://platform.opentargets.org/disease/MONDO_0019391 ## Ensaios clínicos ativos (19) - **NCT06744283** [RECRUITING]: Experience and Management of Cancer Screening-Related Anxiety in Fanconi Anemia — https://clinicaltrials.gov/study/NCT06744283 - **NCT00027274** [RECRUITING]: Cancer in Inherited Bone Marrow Failure Syndromes — https://clinicaltrials.gov/study/NCT00027274 - **NCT05687149** [RECRUITING]: Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia — https://clinicaltrials.gov/study/NCT05687149 - **NCT03050268** [RECRUITING]: Familial Investigations of Childhood Cancer Predisposition — https://clinicaltrials.gov/study/NCT03050268 - **NCT03579875** [RECRUITING]: Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders — https://clinicaltrials.gov/study/NCT03579875 - **NCT04784052** [RECRUITING]: Depleted Donor Stem Cell Transplant in Children and Adults With Fanconi Anemia After Being Conditioned With a Regimen Containing Briquilimab — https://clinicaltrials.gov/study/NCT04784052 - **NCT04232085** [RECRUITING]: Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures — https://clinicaltrials.gov/study/NCT04232085 - **NCT02143830** [RECRUITING]: HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy — https://clinicaltrials.gov/study/NCT02143830 - **NCT02720679** [RECRUITING]: Investigation of the Genetics of Hematologic Diseases — https://clinicaltrials.gov/study/NCT02720679 - **NCT05973656** [RECRUITING]: Role of Acetaldehyde in the Development of Oral Cancer — https://clinicaltrials.gov/study/NCT05973656 ## Doenças relacionadas (por similaridade fenotípica) - [Síndrome aneuploidia variada em mosaico](https://raras.org/doenca/sindrome-aneuploidia-variada-em-mosaico) — ORPHA:1052 — 75 sintomas em comum - [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 66 sintomas em comum - [Anemia de Diamond-Blackfan](https://raras.org/doenca/anemia-de-diamond-blackfan) — ORPHA:124 — 64 sintomas em comum - [Monossomia parcial do braço curto do cromossomo 1](https://raras.org/doenca/monossomia-parcial-do-braco-curto-do-cromossomo-1) — ORPHA:261857 — 62 sintomas em comum - [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 60 sintomas em comum - [Síndrome CHARGE](https://raras.org/doenca/sindrome-charge) — ORPHA:138 — 58 sintomas em comum - [Síndrome Smith-Lemli-Opitz](https://raras.org/doenca/sindrome-smith-lemli-opitz) — ORPHA:818 — 58 sintomas em comum - [Monossomia parcial do cromossomo 3](https://raras.org/doenca/monossomia-parcial-do-cromossomo-3) — ORPHA:261776 — 58 sintomas em comum - [Síndrome Meckel](https://raras.org/doenca/sindrome-meckel) — ORPHA:564 — 54 sintomas em comum - [Monossomia parcial do braço longo do cromossomo 6](https://raras.org/doenca/monossomia-parcial-do-braco-longo-do-cromossomo-6) — ORPHA:262047 — 53 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 — Anemia de Fanconi. Disponível em: https://raras.org/doenca/anemia-de-fanconi **Formato HTML**: https://raras.org/doenca/anemia-de-fanconi **Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=84