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Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.
Features include very common findings: Aplasia cutis congenita; and common findings: Brachydactyly, Cutis marmorata telangiectatica congenita, Absent toenail, and Syndactyly. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 3 | Right atrial enlargement, High blood pressure in lung arteries (pulmonary arterial hypertension), Right ventricular hypertrophy |
NOTCH1 encodes notch receptor 1 (2,555 aa). Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Highest expression in Lung (47.5 TPM) and Spleen (45.2 TPM).
Adams-Oliver syndrome 5 is associated with mutations in the NOTCH1 gene on chromosome 9.
The NOTCH1 protein participates in NOTCH1 Q2440* Transmembrane Fragment, NOTCH1 Q2395* Transmembrane Fragment, and NOTCH1 P2514Rfs*4 Transmembrane Fragment pathways.
NOTCH1 is classified as a druggable target (Cell Surface, Clinically Actionable, Druggable Genome, and Transporter categories) with score 19.6.
Genetic testing for NOTCH1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 very common feature, 4 common features.
No clinical trials have been registered for Adams-Oliver syndrome 5.
7 publications have been identified in PubMed for Adams-Oliver syndrome 5. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (14%).
Tashima Y (2026). [PMID: 42058885](https://pubmed.ncbi.nlm.nih.gov/42058885/). *PNAS Nexus*. [Basic Science / Preclinical]
Huang Y (2025). [PMID: 40098638](https://pubmed.ncbi.nlm.nih.gov/40098638/). *Front Pediatr*. [Case Report / Case Series]
Oral M (2025). [PMID: 41457518](https://pubmed.ncbi.nlm.nih.gov/41457518/). *Ophthalmic Genet*. [Case Report / Case Series]
Farris J (2025). [PMID: 40420130](https://pubmed.ncbi.nlm.nih.gov/40420130/). *BMC Med Genomics*. [Case Report / Case Series]
Yang S (2025). [PMID: 40874655](https://pubmed.ncbi.nlm.nih.gov/40874655/). *Pediatr Dermatol*. [Review / Meta-Analysis]
Ron O (2025). [PMID: 40202490](https://pubmed.ncbi.nlm.nih.gov/40202490/). *Plast Reconstr Surg*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:20 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Adams-Oliver syndrome 5
Arms and legs |
3 |
Hypoplastic toenails, Absent toenail, Dystrophic toenail |
Digestive system | 2 | Esophageal varix, Enlarged spleen (splenomegaly) |
Brain and nerves | 1 | Seizure |
Lungs and breathing | 1 | High blood pressure in lung arteries (pulmonary arterial hypertension) |
Skin | 1 | Cutis marmorata telangiectatica congenita |
Blood and immune system | 1 | Enlarged spleen (splenomegaly) |
Stanley KJ (2024). [PMID: 38778082](https://pubmed.ncbi.nlm.nih.gov/38778082/). *Eur J Hum Genet*. [Epidemiology / Natural History]
AI-curated news mentioning Adams-Oliver syndrome 5
Updated Apr 13, 2026
Recent research identifies mutations in the VCP gene as a cause of Adams-Oliver syndrome, which may occur with or without pulmonary hypertension. This discovery enhances understanding of the genetic basis of this rare condition.