Overview
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is an extremely rare multi-system condition that affects several parts of the body at the same time. As the name suggests, people with this syndrome can develop a combination of atherosclerosis (hardening and narrowing of the arteries), hearing loss (deafness), diabetes (problems with blood sugar control), epilepsy (seizures), and nephropathy (kidney disease). Because so many organ systems are involved, the disease can have a wide-ranging impact on a person's health and quality of life. The condition was first described in a small number of families, and very little has been published about it in the medical literature. Because of its rarity, the exact cause is not fully understood, and there is no single established treatment that addresses all features of the syndrome. Instead, management focuses on treating each symptom individually — for example, using medications to control seizures, hearing aids or cochlear implants for hearing loss, insulin or other drugs for diabetes, blood pressure and cholesterol management for atherosclerosis, and kidney-protective therapies for nephropathy. A team of specialists working together is essential to provide the best possible care. Early recognition of the syndrome's multiple features can help guide appropriate monitoring and treatment to slow disease progression and improve quality of life.
Also known as:
Key symptoms:
Hardening and narrowing of the arteries (atherosclerosis)Hearing loss or deafnessHigh blood sugar or diabetesSeizures (epilepsy)Kidney disease (nephropathy)High blood pressurePoor circulation in the legs or feetFatigue and low energySwelling in the legs or ankles due to kidney problemsProtein in the urineChest pain or shortness of breath from artery diseaseNumbness or tingling in the hands or feet
Clinical phenotype terms (23)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Atherosclerosis-deafness-diabetes-epilepsy-nephropathy 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 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome.
Community
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Start the conversation →Latest news about Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
2 articlesCaregiver 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.Which of the syndrome's features is most concerning for me right now, and what should we prioritize?,How often should my kidney function, blood sugar, hearing, and heart health be monitored?,Are there any genetic tests that could help identify the cause and guide treatment?,What seizure medication is best for me given my other health conditions?,Should my family members be screened for any of these conditions?,Are there any clinical trials or research studies I could participate in?,How can I best coordinate care between all of my specialists?
Common questions about Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
What is Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome?
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is an extremely rare multi-system condition that affects several parts of the body at the same time. As the name suggests, people with this syndrome can develop a combination of atherosclerosis (hardening and narrowing of the arteries), hearing loss (deafness), diabetes (problems with blood sugar control), epilepsy (seizures), and nephropathy (kidney disease). Because so many organ systems are involved, the disease can have a wide-ranging impact on a person's health and quality of life. The condition was first described in a smal
How is Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome inherited?
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.