Overview
ANK3-related intellectual disability-sleep disturbance syndrome is a rare genetic condition caused by changes (mutations) in the ANK3 gene. This gene provides instructions for making a protein called ankyrin-G, which plays an important role in how nerve cells (neurons) in the brain function and communicate with each other. When this gene does not work properly, it can lead to problems with brain development and function. People with this condition typically experience intellectual disability, which can range from mild to severe, meaning they may have difficulty learning, reasoning, and problem-solving compared to others their age. A hallmark feature of this syndrome is significant sleep disturbance, which can include trouble falling asleep, staying asleep, or having an irregular sleep-wake cycle. Many affected individuals also show behavioral challenges such as autism spectrum features, attention difficulties, and sometimes epilepsy (seizures). There is currently no cure for this condition. Treatment focuses on managing individual symptoms. This may include special education services, behavioral therapy, medications for seizures or sleep problems, and speech or occupational therapy. A team of specialists typically works together to provide the best care for each person. Early intervention with therapies can help improve developmental outcomes and quality of life.
Key symptoms:
Intellectual disability (difficulty learning and understanding)Sleep problems (trouble falling or staying asleep)Irregular sleep-wake patternsDelayed speech and language developmentBehavioral difficultiesFeatures of autism spectrum disorderSeizures or epilepsyAttention problemsDelayed motor milestones (sitting, walking)Low muscle tone (floppiness)HyperactivityAnxiety or mood changesDifficulty with social interactions
Clinical phenotype terms (13)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for ANK3-related intellectual disability-sleep disturbance syndrome.
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Specialists
View all specialists →No specialists are currently listed for ANK3-related intellectual disability-sleep disturbance syndrome.
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 ANK3-related intellectual disability-sleep disturbance syndrome.
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.What type of ANK3 mutation does my child have, and what does it mean for their specific symptoms?,What therapies should we start right away to support my child's development?,What are the best options for managing my child's sleep problems?,Should my child be monitored for seizures, and if so, how?,Are there any clinical trials or research studies we could participate in?,What educational supports and accommodations should we request at school?,Should other family members be tested for this genetic change?
Common questions about ANK3-related intellectual disability-sleep disturbance syndrome
What is ANK3-related intellectual disability-sleep disturbance syndrome?
ANK3-related intellectual disability-sleep disturbance syndrome is a rare genetic condition caused by changes (mutations) in the ANK3 gene. This gene provides instructions for making a protein called ankyrin-G, which plays an important role in how nerve cells (neurons) in the brain function and communicate with each other. When this gene does not work properly, it can lead to problems with brain development and function. People with this condition typically experience intellectual disability, which can range from mild to severe, meaning they may have difficulty learning, reasoning, and proble
How is ANK3-related intellectual disability-sleep disturbance syndrome inherited?
ANK3-related intellectual disability-sleep disturbance syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does ANK3-related intellectual disability-sleep disturbance syndrome typically begin?
Typical onset of ANK3-related intellectual disability-sleep disturbance syndrome is infantile. Age of onset can vary across affected individuals.