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Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene.
Features include always present findings: Aplasia cutis congenita; and common findings: Aplasia of the distal phalanges of the toes, Toenail dysplasia, Umbilical hernia, and Hypoplastic toenails. 13 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 6 | Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Aplasia of the distal phalanges of the toes |
EOGT encodes EGF domain specific O-linked N-acetylglucosamine transferase (527 aa). Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc). Highest expression in Artery Aorta (73.6 TPM) and Artery Tibial (56.9 TPM).
Adams-Oliver syndrome 4 is associated with mutations in the EOGT gene on chromosome 3.
EOGT is classified as a druggable target (Enzyme category) with score 0.0.
Genetic testing for EOGT is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 4 common features.
No clinical trials have been registered for Adams-Oliver syndrome 4.
10 publications have been identified in PubMed for Adams-Oliver syndrome 4. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (30%), and Basic Science / Preclinical (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 50% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:06 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Adams-Oliver syndrome 4
Heart and blood vessels | 2 | Ventricular septal defect, Atrial septal defect |
3 |
30% |
Laboratory research | 2 | 20% |
He Y (2026). [PMID: 41959640](https://pubmed.ncbi.nlm.nih.gov/41959640/). *Glob Med Genet*. [Basic Science / Preclinical]
Merk J (2026). [PMID: 41406992](https://pubmed.ncbi.nlm.nih.gov/41406992/). *Pediatrics*. [Case Report / Case Series]
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]
Badiu Tișa I (2025). [PMID: 41516051](https://pubmed.ncbi.nlm.nih.gov/41516051/). *Int J Mol Sci*. [Review / Meta-Analysis]
Oral M (2025). [PMID: 41457518](https://pubmed.ncbi.nlm.nih.gov/41457518/). *Ophthalmic Genet*. [Case Report / Case Series]
Ron O (2025). [PMID: 40202490](https://pubmed.ncbi.nlm.nih.gov/40202490/). *Plast Reconstr Surg*. [Review / Meta-Analysis]
Stanley KJ (2024). [PMID: 38778082](https://pubmed.ncbi.nlm.nih.gov/38778082/). *Eur J Hum Genet*. [Review / Meta-Analysis]
Pillai MR (2024). [PMID: 38866321](https://pubmed.ncbi.nlm.nih.gov/38866321/). *J AAPOS*. [Case Report / Case Series]
Dours L (2024). [PMID: 38881509](https://pubmed.ncbi.nlm.nih.gov/38881509/). *Acta Derm Venereol*. [Case Report / Case Series]
AI-curated news mentioning Adams-Oliver syndrome 4
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.