MECOM-associated syndrome
Findings
No curated finding names MECOM-associated syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss.
Definition from the Mondo Disease Ontology (MONDO:0100458), read 2026-09-29. CC BY 4.0.
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.
- MECOMHGNC:3498
- Definitive · ClinGen · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
1 name
Resolves to: MECOM-associated syndrome
- Also called
- MECOM-related syndrome with variable skeletal and hematologic involvement