autosomal dominant aplasia and myelodysplasia
MONDO:0013851Mondo
Findings
No curated finding names autosomal dominant aplasia and myelodysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bone marrow hypocellularityHPOHP:0005528
- 4 of 6 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 4 of 6 reported patients · Congenital onset
- MyelodysplasiaHPOHP:0002863
- 2 of 6 reported patients
- PancytopeniaHPOHP:0001876
- 2 of 6 reported patients
- Aplastic anemiaHPOHP:0001915
- 1 of 6 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SRP72HGNC:11303
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2022
Where it sits
Other names
3 names
Resolves to: autosomal dominant aplasia and myelodysplasia
- Also called
- autosomal dominant aplastic anaemia and myelodysplasiaautosomal dominant aplastic anemia and myelodysplasiabone marrow failure syndrome type 1