monosomy 7 myelodysplasia and leukemia syndrome 2
MONDO:0030801Mondo
Findings
No curated finding names monosomy 7 myelodysplasia and leukemia syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 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.
- Acute myeloid leukemiaHPOHP:0004808
- AnemiaHPOHP:0001903
- Bone marrow hypocellularityHPOHP:0005528
- Decreased total neutrophil countHPOHP:0001875
- Increased mean corpuscular volumeHPOHP:0005518
- Megakaryocyte dysplasiaHPOHP:0031689
- MyelodysplasiaHPOHP:0002863
- PancytopeniaHPOHP:0001876
- ThrombocytopeniaHPOHP:0001873
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.
- SAMD9HGNC:1348
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: monosomy 7 myelodysplasia and leukemia syndrome 2
- Also called
- M7MLS2