Comprehensive, easy-to-understand information about this condition
How we create this content →Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
Documentation is limited primarily due to the rarity of Angelman syndrome due to a point mutation, which affects fewer than 1 in 15,000 individuals worldwide. This rarity restricts the scope of systematic clinical studies and comprehensive phenotype characterization, making it difficult to gather extensive clinical data.
To navigate your care for Angelman syndrome, consider seeking a specialist in genetic disorders or a neurologist with expertise in neurogenetic conditions. The Angelman Syndrome Support Education and Research Trust (https://angelmanuk.org) offers valuable resources and support for families affected by this condition. Additionally, inquire about potential participation in patient registries or natural history studies to contribute to the understanding of Angelman syndrome. Genetic counseling may also be beneficial to discuss any potential implications for family members.
There are currently 14 orphan drugs designated for Angelman syndrome, including innovative therapies such as antisense oligonucleotides targeting UBE3A and recombinant adeno-associated virus vectors designed to express the UBE3A gene. While no clinical trials are available at this time, the ongoing development of these therapies offers hope for future treatment options. For updates on clinical trials, you can search ClinicalTrials.gov for relevant studies.
Actionable guidance for navigating care for Angelman syndrome due to a point mutation
To navigate your care for Angelman syndrome, consider seeking a specialist in genetic disorders or a neurologist with expertise in neurogenetic conditions. The Angelman Syndrome Support Education and Research Trust (https://angelmanuk.org) offers valuable resources and support for families affected by this condition. Additionally, inquire about potential participation in patient registries or natural history studies to contribute to the understanding of Angelman syndrome. Genetic counseling may also be beneficial to discuss any potential implications for family members.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Angelman syndrome due to a point mutation community
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
3 peer-reviewed sources from PubMed
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.