Overview
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome is a rare inherited condition caused by changes (mutations) in the DIAPH1 gene. This syndrome affects two main body systems: the ears and the blood. People with this condition experience progressive hearing loss that gets worse over time, along with a low platelet count in the blood (called thrombocytopenia). Platelets are tiny blood cells that help your blood clot when you get a cut or injury, so having too few of them can lead to easy bruising and bleeding problems. The hearing loss in this syndrome is sensorineural, meaning it comes from damage to the inner ear or the nerve that carries sound signals to the brain. It usually starts in childhood or early adulthood and tends to worsen gradually. The low platelet count is often mild to moderate and may not cause serious bleeding in all patients, but it does require regular monitoring. There is currently no cure for this syndrome. Treatment focuses on managing symptoms — hearing aids or cochlear implants can help with hearing loss, and platelet levels are watched closely to prevent bleeding complications. Regular follow-up with a team of specialists is important to keep patients safe and maintain quality of life.
Key symptoms:
Progressive hearing loss in both earsLow platelet count in the blood (thrombocytopenia)Easy bruisingProlonged bleeding from cuts or injuriesOccasional nosebleeds or gum bleedingDifficulty hearing high-pitched soundsRinging in the ears (tinnitus) in some patientsFatigue related to blood abnormalities in some cases
Clinical phenotype terms (6)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome.
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Specialists
View all specialists →No specialists are currently listed for DIAPH1-related sensorineural hearing loss-thrombocytopenia 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 DIAPH1-related sensorineural hearing loss-thrombocytopenia 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.How severe is my (or my child's) hearing loss right now, and how quickly might it get worse?,At what platelet level should I be worried about bleeding, and when should I go to the emergency room?,Should other family members be tested for this condition?,Am I a good candidate for a cochlear implant, and when should we consider one?,Are there any medications, sports, or activities I should avoid because of the low platelet count?,How often should I have blood tests and hearing evaluations?,Are there any clinical trials or research studies I could participate in?
Common questions about DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
What is DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome?
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome is a rare inherited condition caused by changes (mutations) in the DIAPH1 gene. This syndrome affects two main body systems: the ears and the blood. People with this condition experience progressive hearing loss that gets worse over time, along with a low platelet count in the blood (called thrombocytopenia). Platelets are tiny blood cells that help your blood clot when you get a cut or injury, so having too few of them can lead to easy bruising and bleeding problems. The hearing loss in this syndrome is sensorineural, meanin
How is DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome inherited?
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.