Adams-Oliver syndrome 1
MONDO:0024506Mondo
Findings
No curated finding names Adams-Oliver syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.
Definition from the Mondo Disease Ontology (MONDO:0024506), read 2026-09-29. CC BY 4.0.
- 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.
- Aortic valve stenosisHPOHP:0001650
- Aplasia cutis congenita over posterior parietal areaHPOHP:0007590
- Bicuspid aortic valveHPOHP:0001647
- Hypoplastic left ventricleHPOHP:0004383
- Tetralogy of FallotHPOHP:0001636
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.
- ARHGAP31HGNC:29216
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: Adams-Oliver syndrome 1
- Also called
- Adams-Oliver syndrome caused by mutation in ARHGAP31AOS1ARHGAP31 Adams-Oliver syndrome