# Hemopatia mieloide

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

## Identificadores

- **ORPHA**: 171895 — https://www.orpha.net/en/disease/detail/171895
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Proteína contendo domínios Ras e EF-hand, também conhecida como proteína relacionada a Ras Rab-45, é uma proteína que em humanos é codificada pelo gene RASEF.

## Epidemiologia e herança


## Sinais e sintomas (200 fenótipos HPO)

- **Hiperplasia eritroide** — HPO: HP:0012132
- **Sintoma constitucional** — HPO: HP:0025142
- **Hepatoesplenomegalia** — HPO: HP:0001433
- **Fadiga fácil** — HPO: HP:0003388
- **Neoplasia hematológica** — HPO: HP:0004377
- **Caquexia** — HPO: HP:0004326
- **Palpitações** — HPO: HP:0001962
- **Palidez anêmica** — HPO: HP:0001017
- **Anemia macrocítica** — HPO: HP:0001972
- **Anisocitose** — HPO: HP:0011273
- **Aumento da contagem de micromegacariócitos** — HPO: HP:0031386
- **Nível anormal de albumina** — HPO: HP:0012116
- **Nível anormal de proteína circulante** — HPO: HP:0010876
- **Edema pedal** — HPO: HP:0010741
- **Mielodisplasia de linhagem múltipla** — HPO: HP:0012148
- **Anormalidade da morfologia do neutrófilo** — HPO: HP:0011992
- **Morfologia eritrocitária anormal** — HPO: HP:0001877
- **Leucemia mielomonocítica aguda** — HPO: HP:0004820
- **Hemorragia retiniana** — HPO: HP:0000573
- **Função ventricular cardíaca anormal** — HPO: HP:0030872
- **Dor lombar** — HPO: HP:0003419
- **Anormalidade das células estromais da medula óssea** — HPO: HP:0012129
- **Positividade de autoanticorpos** — HPO: HP:0030057
- **Hemangioma** — HPO: HP:0001028
- **Dor no flanco** — HPO: HP:0030157
- **Febre baixa** — HPO: HP:0011134
- **Poiquilocitose** — HPO: HP:0004447
- **Volume corpuscular médio anormal** — HPO: HP:0025065
- **Mielodisplasia de linhagem única** — HPO: HP:0012150
- **Morfologia anormal do proeritroblasto** — HPO: HP:0025035
- **Granulocitopenia** — HPO: HP:0001913
- **Morfologia anormal de megacariócitos** — HPO: HP:0012143
- **Anemia normocrômica** — HPO: HP:0001895
- **Hipolobulação do núcleo megacariocítico** — HPO: HP:0031385
- **Morfologia anormal da unha** — HPO: HP:0001231
- **Anemia macrocítica refratária** — HPO: HP:0004861
- **Anormalidade da gengiva** — HPO: HP:0000168
- **Gangrena** — HPO: HP:0100758
- **Anormalidade dos basófilos** — HPO: HP:0001912
- **Anormalidade do sangue e tecidos hematopoiéticos** — HPO: HP:0001871
- _...e mais 160 sintomas. Ver https://raras.org/doenca/hemopatia-mieloide._

## Genes associados (56)

- **MLLT10** — Protein AF-10 [Disease-causing germline mutation(s) in]
  - Função: Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA. In cells, binding to unmodified histone H3 regulate
- **DEK** — Protein DEK [Candidate gene tested in]
  - Função: Involved in chromatin organization
- **TBL1XR1** — F-box-like/WD repeat-containing protein TBL1XR1 [Candidate gene tested in]
  - Função: F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated b
- **NABP1** — SOSS complex subunit B2 [Candidate gene tested in]
  - Função: Component of the SOSS complex, a multiprotein complex that functions downstream of the MRN complex to promote DNA repair and G2/M checkpoint. In the SOSS complex, acts as a sensor of single-stranded D
- **PML** — Protein PML [Candidate gene tested in]
  - Função: Functions via its association with PML-nuclear bodies (PML-NBs) in a wide range of important cellular processes, including tumor suppression, transcriptional regulation, apoptosis, senescence, DNA dam
- **MRTFA** — Myocardin-related transcription factor A [Candidate gene tested in]
  - Função: Transcription coactivator that associates with the serum response factor (SRF) transcription factor to control expression of genes regulating the cytoskeleton during development, morphogenesis and cel
- **STAT5B** — Signal transducer and activator of transcription 5B [Candidate gene tested in]
  - Função: Carries out a dual function: signal transduction and activation of transcription (PubMed:29844444). Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS ele
- **RUNX1T1** — Protein CBFA2T1 [Candidate gene tested in]
  - Função: Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes
- **CBFB** — Core-binding factor subunit beta [Candidate gene tested in]
  - Função: Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognizing the cor
- **MYH11** — Myosin-11 [Candidate gene tested in]
  - Função: Muscle contraction
- **BCOR** — BCL-6 corepressor [Candidate gene tested in]
  - Função: Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediat
- **TGM6** — Protein-glutamine gamma-glutamyltransferase 6 [Candidate gene tested in]
  - Função: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins
- **RBM15** — RNA-binding protein 15 [Candidate gene tested in]
  - Função: RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as hematopoietic cell homeostasis, alternative splicing o
- **KMT2A** — Histone-lysine N-methyltransferase 2A [Candidate gene tested in]
  - Função: Histone methyltransferase that plays an essential role in early development and hematopoiesis (PubMed:12453419, PubMed:15960975, PubMed:19187761, PubMed:19556245, PubMed:20677832, PubMed:21220120, Pub
- **KAT6A** — Histone acetyltransferase KAT6A [Candidate gene tested in]
  - Função: Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro) (PubMed:11742995, PubMed:11965546). Component of the MOZ/MORF complex which has a histone H3 acetyltra

## Medicamentos em desenvolvimento (9)

- LENALIDOMIDE — Fase Phase 4 (CRL4(CRBN) E3 ubiquitin ligase modulator)
- DECITABINE — Fase Phase 4 (DNA (cytosine-5)-methyltransferase 3A inhibitor)
- AZACITIDINE — Fase Phase 4 (DNA (cytosine-5)-methyltransferase 3A inhibitor)
- LUSPATERCEPT — Fase Phase 4 (Transforming growth factor beta inhibitor)
- CEDAZURIDINE — Fase Phase 4 (Cytidine deaminase inhibitor)
- IDARUBICIN HYDROCHLORIDE — Fase Phase 4 (DNA topoisomerase II alpha inhibitor)
- GEMTUZUMAB OZOGAMICIN — Fase Phase 4 (Myeloid cell surface antigen CD33 binding agent)
- SARGRAMOSTIM — Fase Phase 4 (Granulocyte-macrophage colony-stimulating factor receptor agonist)
- MIDOSTAURIN — Fase Phase 4 (Protein kinase C (PKC) inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0015756

## Doenças relacionadas (por similaridade fenotípica)

- [Doença mieloproliferativa crônica](https://raras.org/doenca/doenca-mieloproliferativa-cronica) — ORPHA:98274 — 144 sintomas em comum
- [Síndromes mielodisplásicos](https://raras.org/doenca/sindromes-mielodisplasicos) — ORPHA:52688 — 88 sintomas em comum
- [Leucemia mieloide aguda](https://raras.org/doenca/leucemia-mieloide-aguda) — ORPHA:519 — 69 sintomas em comum
- [Aplasia constitucional medular do adulto](https://raras.org/doenca/aplasia-constitucional-medular-do-adulto) — ORPHA:164823 — 54 sintomas em comum
- [Policitemia](https://raras.org/doenca/policitemia) — ORPHA:98427 — 50 sintomas em comum
- [Policitemia vera](https://raras.org/doenca/729) — ORPHA:729 — 44 sintomas em comum
- [Anemia sideroblástica](https://raras.org/doenca/anemia-sideroblastica) — ORPHA:1047 — 44 sintomas em comum
- [Mielofibrose com metaplasia mieloide](https://raras.org/doenca/824) — ORPHA:824 — 39 sintomas em comum
- [Citopenia refratária com displasia multilinear](https://raras.org/doenca/citopenia-refrataria-com-displasia-multilinear) — ORPHA:86836 — 38 sintomas em comum
- [Síndrome de falência progressiva da medula óssea-imunodeficiência células B-displasia esquelética](https://raras.org/doenca/508542) — ORPHA:508542 — 38 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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**Citação sugerida**: Raras.org — Hemopatia mieloide. Disponível em: https://raras.org/doenca/hemopatia-mieloide
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**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=171895