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Features include common findings: Wide mouth, Widely spaced teeth, Hypopigmentation of the skin, and Intellectual disability and others; and sometimes findings: Mandibular prognathia, Difficulty swallowing (dysphagia), Poor suck, and Heat intolerance and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 13 | Intellectual disability, Seizure, Global developmental delay |
Phenotype severity distribution: 14 common features.
No clinical trials have been registered for Angelman syndrome due to paternal uniparental disomy of chromosome 15.
5 publications have been identified in PubMed for Angelman syndrome due to paternal uniparental disomy of chromosome 15. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).
Lee Curtis D (2025). [PMID: 40761536](https://pubmed.ncbi.nlm.nih.gov/40761536/). *Case Rep Genet*. [Case Report / Case Series]
Milazzo C (2025). [PMID: 40877933](https://pubmed.ncbi.nlm.nih.gov/40877933/). *Mol Autism*. [Basic Science / Preclinical]
Cazaux Mateus F (2025). [PMID: 40956516](https://pubmed.ncbi.nlm.nih.gov/40956516/). *Hum Cell*. [Basic Science / Preclinical]
Moch J (2024). [PMID: 39012485](https://pubmed.ncbi.nlm.nih.gov/39012485/). *Hum Genet*. [Epidemiology / Natural History]
Data assembled from 4 of 12 sources · Last updated Oct 3, 2026, 12:56 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Angelman syndrome due to paternal uniparental disomy of chromosome 15
Digestive system |
2 |
Feeding difficulties, Difficulty swallowing (dysphagia) |
Head and neck | 2 | Mandibular prognathia, Secondary microcephaly |
Skin | 1 | Hypopigmentation of the skin |
Arms and legs | 1 | Lower limb hyperreflexia |
Metabolism | 1 | Heat intolerance |
Growth and development | 1 | Cessation of head growth |
AI-curated news mentioning Angelman syndrome due to paternal uniparental disomy of chromosome 15
Updated Aug 25, 2026
The FDA approved Genglycos (pariglasgene brecaparvovec-opnr) to reduce daily cornstarch intake in patients aged 8 years and older with glycogen storage disease type Ia. Known as Von Gierke disease, GSDIa is a rare metabolic disorder caused by a mutation in the G6PC gene. This genetic variation leads to a deficiency in glucose-6-phosphatase (G6Pase), an enzyme needed to release glucose into the bloodstream. Without this enzyme, the body cannot properly maintain blood glucose levels, causing severe hypoglycemia and other serious metabolic complications · Pariglasgene brecaparvovec is an adeno-associated virus (AAV) serotype 8 based gene therapy that delivers a functional copy of the G6PC gene into liver cells, enabling the production of normally functioning G6Pase. Ultragenyx stated that as part of its postmarketing commitments to the FDA, the Company will provide 2 years of clinical data from open-label commercial treatment of 50 patients and 20 control patients through its existing GSDIa Disease Monitoring Program. ... Ultragenyx announces US FDA approval of Genglycos™ gene therapy, the first-ever FDA-approved treatment designed to treat the underlying cause of glycogen storage disease type Ia (GSDIa). “The reduced reliance on cornstarch, experienced by patients in our clinical studies, demonstrates this gene therapy’s ability to establish the normal breakdown of glycogen to produce glucose during fasting or episodes of metabolic stress. This ability to regulate glucose has alleviated the disease burden and has the potential to mitigate the risk of severe or life-threatening hypoglycemia for these patients.” Close more info about First Gene Therapy Approved for Glycogen Storage Disease Type la