radioulnar synostosis with amegakaryocytic thrombocytopenia 1
MONDO:0024558Mondo
Findings
No curated finding names radioulnar synostosis with amegakaryocytic thrombocytopenia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene.
Definition from the Mondo Disease Ontology (MONDO:0024558), 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.
- HOXA11HGNC:5101
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · ClinGen · Autosomal dominant · 2024
- Limited · G2P · Autosomal dominant · 2016
Where it sits
Other names
2 names
Resolves to: radioulnar synostosis with amegakaryocytic thrombocytopenia 1
- Also called
- HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeradio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11