Adams-Oliver syndrome 5
MONDO:0014459Mondo
Findings
No curated finding names Adams-Oliver syndrome 5 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 NOTCH1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014459), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
12 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.
- Aplasia cutis congenitaHPOHP:0001057
- 5 of 6 reported patients
- Cutis marmorata telangiectatica congenitaHPOHP:0025107
- 4 of 6 reported patients
- Absent toenailHPOHP:0001802
- 2 of 6 reported patients
- BrachydactylyHPOHP:0001156
- 2 of 6 reported patients
- SyndactylyHPOHP:0001159
- 2 of 6 reported patients
- Hypoplastic toenailsHPOHP:0001800
- 1 of 6 reported patients
- Inguinal herniaHPOHP:0000023
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.
- NOTCH1HGNC:7881
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
3 names
Resolves to: Adams-Oliver syndrome 5
- Also called
- Adams-Oliver syndrome caused by mutation in NOTCH1Adams-Oliver syndrome type 5AOS5