# Anemia aplásica rara

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

## Identificadores

- **ORPHA**: 182040 — https://www.orpha.net/en/disease/detail/182040
- **OMIM**: OMIM:609135 — https://omim.org/entry/609135

## Descrição clínica

Anemia resultante de insuficiência da medula óssea (medula óssea aplásica ou hipoplásica). A produção de eritroblastos e glóbulos vermelhos está acentuadamente diminuída e também pode estar associada à diminuição da produção de granulócitos (granulocitopenia) e plaquetas (trombocitopenia). A anemia aplástica pode ser idiopática ou secundária devido a danos na medula óssea por toxinas, radiação ou fatores imunológicos.

## Epidemiologia e herança


## Sinais e sintomas (445 fenótipos HPO)

- **Hipercelularidade da medula óssea** — HPO: HP:0031020
- **Refluxo vesicoureteral** — HPO: HP:0000076
- **Paralisia facial** — HPO: HP:0010628
- **Retardo do crescimento pós-natal** — HPO: HP:0008897
- **Primeiro metacarpo curto** — HPO: HP:0010034
- **Baqueteamento dos pododáctilos** — HPO: HP:0100760
- **Astigmatismo** — HPO: HP:0000483
- **Morfologia anormal do polegar** — HPO: HP:0001172
- **Positividade de autoanticorpos** — HPO: HP:0030057
- **Câncer de cólon** — HPO: HP:0003003
- **Vértebras torácicas bífidas** — HPO: HP:0008437
- **Hemangioma** — HPO: HP:0001028
- **Lobação pulmonar anormal** — HPO: HP:0002101
- **Defeito do septo atrial tipo ostium secundum** — HPO: HP:0001684
- **Aumento da ureia nitrogenada no sangue** — HPO: HP:0003138
- **Anormalidade auditiva** — HPO: HP:0000364
- **Ptose unilateral** — HPO: HP:0007687
- **Hipoplasia cerebelar** — HPO: HP:0001321
- **Dedo do pé curto** — HPO: HP:0001831
- **Odinofagia** — HPO: HP:0032043
- **Leucocitose** — HPO: HP:0001974
- **Fissura palpebral curta** — HPO: HP:0012745
- **Anemia diseritropoiética macrocítica** — HPO: HP:0005532
- **Manchas cutâneas hipopigmentadas** — HPO: HP:0001053
- **Peso corporal diminuído** — HPO: HP:0004325
- **Morfologia anormal da substância branca periventricular** — HPO: HP:0002518
- **Agenesia renal** — HPO: HP:0000104
- **Cílios longos** — HPO: HP:0000527
- **Polidrâmnio** — HPO: HP:0001561
- **Face triangular** — HPO: HP:0000325
- **Infertilidade masculina** — HPO: HP:0003251
- **Sangramento gengival** — HPO: HP:0000225
- **Cílios esparsos** — HPO: HP:0000653
- **Talipes equinovarus bilateral** — HPO: HP:0001776
- **Anemia hemolítica** — HPO: HP:0001878
- **Disfagia** — HPO: HP:0002015
- **Atraso do neurodesenvolvimento** — HPO: HP:0012758
- **Costelas supranumerárias** — HPO: HP:0005815
- **Defeitos de redução do antebraço** — HPO: HP:0006368
- **Cardiomiopatia hipertrófica** — HPO: HP:0001639
- _...e mais 405 sintomas. Ver https://raras.org/doenca/anemia-aplasica-rara._

## Genes associados (64)

- **TET2** — Methylcytosine dioxygenase TET2 [Candidate gene tested in]
  - Função: Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for
- **TERT** — Telomerase reverse transcriptase [MENDELIAN]
  - 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
- **SBDS** — Ribosome maturation protein SBDS [POLYGENIC]
  - Função: Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating riboso
- **RPL35** — Large ribosomal subunit protein uL29 [Disease-causing germline mutation(s) in]
  - Função: Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (P
- **ERCC6L2** — DNA excision repair protein ERCC-6-like 2 [Disease-causing germline mutation(s) in]
  - Função: Promotes double-strand break (DSB) end-joining and facilitates programmed recombination by controlling how DNA ends are joined in a spatially oriented manner during repair (By similarity). Also plays
- **RPS20** — Small ribosomal subunit protein uS10 [Candidate gene tested in]
  - Função: Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399)
- **BRCA1** — Breast cancer type 1 susceptibility protein [Disease-causing germline mutation(s) 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
- **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,
- **MPL** — Thrombopoietin receptor [Disease-causing germline mutation(s) in]
  - Função: Receptor for thrombopoietin that regulates hematopoietic stem cell renewal, megakaryocyte differentiation, and platelet formation. Upon activation by THPO, induces rapid tyrosine phosphorylation and a
- **MAD2L2** — Mitotic spindle assembly checkpoint protein MAD2B [Disease-causing germline mutation(s) in]
  - Função: Adapter protein able to interact with different proteins and involved in different biological processes (PubMed:11459825, PubMed:11459826, PubMed:17296730, PubMed:17719540, PubMed:19443654, PubMed:296
- **XRCC2** — DNA repair protein XRCC2 [Disease-causing germline mutation(s) in]
  - Função: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD51 paralog protein compl
- **RPS29** — Small ribosomal subunit protein uS14 [Disease-causing germline mutation(s) in]
  - Função: Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (P
- **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)
- **RPL26** — Large ribosomal subunit protein uL24 [Disease-causing germline mutation(s) in]
  - Função: Component of the large ribosomal subunit (PubMed:23636399, PubMed:26100019, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (P
- **NBN** — Nibrin [Disease-causing germline mutation(s) in]
  - Função: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:10888888, PubMed:15616588, PubMed

## Medicamentos em desenvolvimento (13)

- RUXOLITINIB PHOSPHATE — Fase Phase 4 (Tyrosine-protein kinase JAK2 inhibitor)
- FEDRATINIB HYDROCHLORIDE — Fase Phase 4 (Tyrosine-protein kinase JAK2 inhibitor)
- PACRITINIB CITRATE — Fase Phase 4 (Tyrosine-protein kinase receptor FLT3 inhibitor)
- ECULIZUMAB — Fase Phase 4 (Complement C5 inhibitor)
- RAVULIZUMAB — Fase Phase 4 (Complement C5 inhibitor)
- PEGCETACOPLAN — Fase Phase 4 (Complement C3 inhibitor)
- MOMELOTINIB — Fase Phase 3 (Tyrosine-protein kinase JAK2 inhibitor)
- PEGINTERFERON ALFA-2A — Fase Phase 3 (Interferon alpha/beta receptor agonist)
- PEGINTERFERON ALFA-2B — Fase Phase 3 (Interferon alpha/beta receptor agonist)
- FEDRATINIB — Fase Phase 3 (Tyrosine-protein kinase receptor FLT3 inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0015909

## Ensaios clínicos ativos (5)

- **NCT06227429** [WITHDRAWN]: A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients — https://clinicaltrials.gov/study/NCT06227429
- **NCT06213402** [RECRUITING]: RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs) — https://clinicaltrials.gov/study/NCT06213402
- **NCT06065852** [RECRUITING]: National Registry of Rare Kidney Diseases — https://clinicaltrials.gov/study/NCT06065852
- **NCT00004464** [COMPLETED]: Study of High Dose Cyclophosphamide in Patients With Severe Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria — https://clinicaltrials.gov/study/NCT00004464
- **NCT00004474** [COMPLETED]: Phase III Randomized Study of Cyclophosphamide With or Without Antithymocyte Globulin Before Bone Marrow Transplantation in Patients With Aplastic Anemia — https://clinicaltrials.gov/study/NCT00004474

## Doenças relacionadas (por similaridade fenotípica)

- [Anemia de Diamond-Blackfan](https://raras.org/doenca/anemia-de-diamond-blackfan) — ORPHA:124 — 179 sintomas em comum
- [Síndrome aneuploidia variada em mosaico](https://raras.org/doenca/sindrome-aneuploidia-variada-em-mosaico) — ORPHA:1052 — 93 sintomas em comum
- [Síndrome de blefarofimose-perturbação do desenvolvimento intelectual](https://raras.org/doenca/sindrome-de-blefarofimose-perturbacao-do-desenvolvimento-intelectual) — ORPHA:293642 — 88 sintomas em comum
- [Hemopatia mieloide](https://raras.org/doenca/hemopatia-mieloide) — ORPHA:171895 — 87 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 — 87 sintomas em comum
- [Monossomia parcial do cromossomo 19](https://raras.org/doenca/monossomia-parcial-do-cromossomo-19) — ORPHA:261841 — 83 sintomas em comum
- [Aplasia constitucional medular do adulto](https://raras.org/doenca/aplasia-constitucional-medular-do-adulto) — ORPHA:164823 — 83 sintomas em comum
- [Trissomia parcial do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-cromossomo-16) — ORPHA:262672 — 75 sintomas em comum
- [Trissomia parcial do braço curto do cromossomo 16](https://raras.org/doenca/trissomia-parcial-do-braco-curto-do-cromossomo-16) — ORPHA:262794 — 75 sintomas em comum
- [Síndrome Smith-Lemli-Opitz](https://raras.org/doenca/sindrome-smith-lemli-opitz) — ORPHA:818 — 75 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.

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