Overview
Angelman syndrome due to an imprinting defect in the 15q11-q13 region is a rare genetic condition that affects the nervous system and causes significant developmental challenges. In this specific form, the problem is not a missing piece of chromosome 15 or a mutation in the UBE3A gene itself, but rather an error in the chemical 'switches' (called imprinting marks) that control whether the maternal copy of the UBE3A gene is turned on or off in the brain. Normally, only the mother's copy of UBE3A is active in brain cells. When the imprinting process goes wrong, the maternal copy stays silent, and the brain does not produce enough UBE3A protein. Children with this condition typically show severe intellectual disability, little or no speech, a happy and excitable demeanor with frequent smiling and laughter, balance and movement difficulties (ataxia), and seizures. Sleep problems are also very common. Affected children usually have a smaller head size (microcephaly) that becomes more noticeable over time. There is currently no cure for Angelman syndrome caused by an imprinting defect. Treatment focuses on managing symptoms such as seizures with anti-epileptic medications, physical therapy for movement difficulties, speech therapy using alternative communication methods, and behavioral support. This imprinting defect subtype is particularly important because it may carry a different recurrence risk in families compared to other causes of Angelman syndrome, and genetic counseling is essential for family planning.
Key symptoms:
Severe intellectual disabilityLittle or no speechFrequent smiling and laughterEasily excitable personalityBalance and coordination problems (ataxia)Seizures or epilepsySleep difficultiesSmall head size (microcephaly)Jerky or stiff movementsHand flapping or other repetitive movementsFeeding difficulties in infancyFascination with waterDifficulty with attention and hyperactivityWide-based walking gaitDrooling and tongue thrusting
Clinical phenotype terms (27)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Angelman syndrome due to imprinting defect in 15q11-q13.
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Specialists
View all specialists →No specialists are currently listed for Angelman syndrome due to imprinting defect in 15q11-q13.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Angelman syndrome due to imprinting defect in 15q11-q13.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Is the imprinting defect in my child caused by a deletion in the imprinting center or an epimutation, and what does this mean for future pregnancies?,What seizure medications are safest and most effective for Angelman syndrome?,What early intervention therapies should we start, and how often?,Are there any clinical trials for new treatments that my child might be eligible for?,What communication tools or devices would you recommend for my child?,How should we manage sleep problems, and is melatonin appropriate?,What should our emergency plan be if my child has a prolonged seizure?
Common questions about Angelman syndrome due to imprinting defect in 15q11-q13
What is Angelman syndrome due to imprinting defect in 15q11-q13?
Angelman syndrome due to an imprinting defect in the 15q11-q13 region is a rare genetic condition that affects the nervous system and causes significant developmental challenges. In this specific form, the problem is not a missing piece of chromosome 15 or a mutation in the UBE3A gene itself, but rather an error in the chemical 'switches' (called imprinting marks) that control whether the maternal copy of the UBE3A gene is turned on or off in the brain. Normally, only the mother's copy of UBE3A is active in brain cells. When the imprinting process goes wrong, the maternal copy stays silent, an
At what age does Angelman syndrome due to imprinting defect in 15q11-q13 typically begin?
Typical onset of Angelman syndrome due to imprinting defect in 15q11-q13 is infantile. Age of onset can vary across affected individuals.