# Síndromes mielodisplásicos

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

## Identificadores

- **ORPHA**: 52688 — https://www.orpha.net/en/disease/detail/52688
- **OMIM**: OMIM:614286 — https://omim.org/entry/614286

## Descrição clínica

Grupo de hemopatias mieloides caracterizadas por citopenias sanguíneas, displasia da medula e elevado risco de progressão para leucemia mieloide aguda (LMA).

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000

## Sinais e sintomas (89 fenótipos HPO)

- **Trigonocefalia** — HPO: HP:0000243
- **HP:0001442** — HPO: HP:0001442
- **Dispneia de esforço** — HPO: HP:0002875
- **Palpitações** — HPO: HP:0001962
- **Febre** — HPO: HP:0001945
- **Palidez anêmica** — HPO: HP:0001017
- **Hipercelularidade da medula óssea** — HPO: HP:0031020
- **Aumento da concentração circulante de lactato desidrogenase** — HPO: HP:0025435
- **Anemia macrocítica** — HPO: HP:0001972
- **Dor óssea** — HPO: HP:0002653
- **Anisocitose** — HPO: HP:0011273
- **Nível anormal de albumina** — HPO: HP:0012116
- **Nível anormal de proteína circulante** — HPO: HP:0010876
- **Edema pedal** — HPO: HP:0010741
- **Morfologia anormal das células da medula óssea** — HPO: HP:0005561
- **Fadiga** — HPO: HP:0012378
- **Mielodisplasia de linhagem múltipla** — HPO: HP:0012148
- **Anormalidade das células estromais da medula óssea** — HPO: HP:0012129
- **Anormalidade da morfologia do neutrófilo** — HPO: HP:0011992
- **Morfologia eritrocitária anormal** — HPO: HP:0001877
- **Hemorragia retiniana** — HPO: HP:0000573
- **Função ventricular cardíaca anormal** — HPO: HP:0030872
- **Dispneia** — HPO: HP:0002094
- **Volume corpuscular médio anormal** — HPO: HP:0025065
- **Mielodisplasia de linhagem única** — HPO: HP:0012150
- **Granulocitopenia** — HPO: HP:0001913
- **Infecção crônica** — HPO: HP:0031035
- **Morfologia anormal de megacariócitos** — HPO: HP:0012143
- **Anemia normocrômica** — HPO: HP:0001895
- **Hipolobulação do núcleo megacariocítico** — HPO: HP:0031385
- **Leucocitose** — HPO: HP:0001974
- **Sangramento anormal** — HPO: HP:0001892
- **Esplenomegalia** — HPO: HP:0001744
- **Morfologia anormal da unha** — HPO: HP:0001231
- **Anemia macrocítica refratária** — HPO: HP:0004861
- **Hipoplasia eritroide** — HPO: HP:0012133
- **Retrusão médio-facial** — HPO: HP:0011800
- **Encurtamento rizomélico do braço** — HPO: HP:0004991
- **Morfologia anormal do tórax** — HPO: HP:0000765
- **Deficiência auditiva** — HPO: HP:0000365
- _...e mais 49 sintomas. Ver https://raras.org/doenca/sindromes-mielodisplasicos._

## Genes associados (10)

- **TP53** — Cellular tumor antigen p53 [Major susceptibility factor in]
  - Função: Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775
- **GATA2** — Endothelial transcription factor GATA-2 [Candidate gene tested in]
  - Função: Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'
- **MYSM1** — Deubiquitinase MYSM1 [Candidate gene tested in]
  - Função: Metalloprotease with deubiquitinase activity that plays important regulator roles in hematopoietic stem cell function, blood cell production and immune response (PubMed:24062447, PubMed:26220525, PubM
- **SF3B1** — Splicing factor 3B subunit 1 [Disease-causing germline mutation(s) in]
  - Função: Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:27720643, PubMed:32494006, PubMed:3
- **GNB1** — Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 [Disease-causing germline mutation(s) in]
  - Função: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems (PubMed:29925951, PubMed:33762731, PubMed:34239069, PubMed:3561022
- **SAMD9** — Sterile alpha motif domain-containing protein 9 [Disease-causing germline mutation(s) in]
  - Função: Double-stranded nucleic acid binding that acts as an antiviral factor by playing an essential role in the formation of cytoplasmic antiviral granules (PubMed:25428864, PubMed:28157624). May play a rol
- **SAMD9L** — Sterile alpha motif domain-containing protein 9-like [Disease-causing germline mutation(s) in]
  - Função: May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors
- **TET2** — Methylcytosine dioxygenase TET2 [Disease-causing germline mutation(s) 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
- **RPS14** — Small ribosomal subunit protein uS11 [Disease-causing germline mutation(s) in]
  - Função: Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Part of the small subunit (SSU) processome, first pre
- **ASXL1** — Polycomb group protein ASXL1 [Disease-causing germline mutation(s) in]
  - Função: Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-acti

## Ensaios clínicos ativos (30)

- **NCT06303193** [RECRUITING]: Pacritinib, a Kinase Inhibitor of CSF1R, IRAK1, JAK2, and FLT3, in Adults and Pediatric Participants 12 Years of Age or Older With Myelodysplastic Syndromes or Myelodysplastic/Myeloproliferative Neoplasms — https://clinicaltrials.gov/study/NCT06303193
- **NCT05564390** [RECRUITING]: MYELOMATCH: A Screening Study to Assign People With Myeloid Cancer to a Treatment Study or Standard of Care Treatment Within myeloMATCH (MyeloMATCH Screening Trial) — https://clinicaltrials.gov/study/NCT05564390
- **NCT06247787** [RECRUITING]: A Study to Find the Highest Dose of Imetelstat in Combination With Fludarabine and Cytarabine for Patients With AML, MDS or JMML That Has Come Back or Does Not Respond to Therapy — https://clinicaltrials.gov/study/NCT06247787
- **NCT05969860** [RECRUITING]: At-Home Cancer Directed Therapy Versus in Clinic for the Treatment of Patients With Advanced Cancer — https://clinicaltrials.gov/study/NCT05969860
- **NCT07532824** [RECRUITING]: Proton-Based Total Marrow Irradiation for Allogeneic Transplantation in High-Risk AML/MDS — https://clinicaltrials.gov/study/NCT07532824
- **NCT07493538** [RECRUITING]: MT2025-35 Allogeneic Hematopoietic Stem Cell Transplantation Using Reduced Intensity Conditioning Treosulfan and Fludarabine, With Post-Transplant Cytoxan (PTCy) for the Treatment of Hematological Diseases — https://clinicaltrials.gov/study/NCT07493538
- **NCT04493138** [RECRUITING]: Azacitidine and Quizartinib for the Treatment of Myelodysplastic Syndrome or Myelodysplastic/Myeloproliferative Neoplasm With FLT3 or CBL Mutations — https://clinicaltrials.gov/study/NCT04493138
- **NCT06439199** [RECRUITING]: Biological, Prospective Study Evaluating the Dosage of Plasma Cytokines Including the FLT3 Ligand and IL6 of Patients Treated With Non-intensive Chemotherapy — https://clinicaltrials.gov/study/NCT06439199
- **NCT01624805** [RECRUITING]: Methylprednisolone, Horse Anti-Thymocyte Globulin, Cyclosporine, Filgrastim, and/or Pegfilgrastim or Pegfilgrastim Biosimilar in Treating Patients With Aplastic Anemia or Low or Intermediate-Risk Myelodysplastic Syndrome — https://clinicaltrials.gov/study/NCT01624805
- **NCT06597734** [RECRUITING]: A Phase 2 Study Evaluating Olutasidenib in Combination With Hypomethylating Agents in Patients With IDH1-mutated Higher-risk Myelodysplastic Syndromes, Chronic Myelomonocytic Leukemia, or Advanced Myeloproliferative Neoplasm — https://clinicaltrials.gov/study/NCT06597734

## Doenças relacionadas (por similaridade fenotípica)

- [Hemopatia mieloide](https://raras.org/doenca/hemopatia-mieloide) — ORPHA:171895 — 88 sintomas em comum
- [Anemia sideroblástica](https://raras.org/doenca/anemia-sideroblastica) — ORPHA:1047 — 40 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
- [Citopenia refratária com displasia multilinear](https://raras.org/doenca/citopenia-refrataria-com-displasia-multilinear) — ORPHA:86836 — 38 sintomas em comum
- [Doença mieloproliferativa crônica](https://raras.org/doenca/doenca-mieloproliferativa-cronica) — ORPHA:98274 — 32 sintomas em comum
- [Anemia sideroblástica idiopática adquirida](https://raras.org/doenca/anemia-sideroblastica-idiopatica-adquirida) — ORPHA:75564 — 28 sintomas em comum
- [Leucemia mieloide aguda](https://raras.org/doenca/leucemia-mieloide-aguda) — ORPHA:519 — 28 sintomas em comum
- [Anemia de Diamond-Blackfan](https://raras.org/doenca/anemia-de-diamond-blackfan) — ORPHA:124 — 25 sintomas em comum
- [Neoplasia mielodisplásica com excesso de blastos](https://raras.org/doenca/neoplasia-mielodisplasica-com-excesso-de-blastos) — ORPHA:86839 — 22 sintomas em comum
- [Neutropenia congênita](https://raras.org/doenca/42738) — ORPHA:42738 — 22 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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