Overview
Cataract-nephropathy-encephalopathy syndrome is an extremely rare genetic condition that affects three main parts of the body: the eyes, the kidneys, and the brain. The name of the syndrome describes its three key features. "Cataract" refers to clouding of the lens in the eye, which can cause blurred vision or vision loss. "Nephropathy" means kidney disease, which can impair the kidneys' ability to filter waste from the blood properly. "Encephalopathy" refers to brain dysfunction, which can lead to developmental delays, intellectual disability, or other neurological problems. This syndrome typically appears early in life, often during infancy or early childhood. Affected children may show signs of visual problems due to cataracts, along with kidney issues that may be detected through abnormal urine or blood tests. Brain involvement can range from mild developmental delays to more significant intellectual disability and may include seizures in some cases. Because this condition is so rare, there is very limited information about its full range of symptoms and long-term outcomes. Treatment is mainly supportive and focuses on managing each affected organ system individually. Cataracts may be treated with surgery, kidney disease is managed by a nephrologist, and neurological symptoms are addressed with appropriate therapies and medications. Early diagnosis and a coordinated team of specialists are important for the best possible outcomes.
Also known as:
Key symptoms:
Clouding of the eye lens (cataracts)Vision problems or vision lossKidney disease or kidney failureProtein in the urineDevelopmental delaysIntellectual disabilitySeizuresPoor growth or failure to thriveBrain abnormalitiesMuscle weakness or low muscle toneDifficulty with coordination
Clinical phenotype terms (6)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Cataract-nephropathy-encephalopathy syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Cataract-nephropathy-encephalopathy syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Cataract-nephropathy-encephalopathy 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 Cataract-nephropathy-encephalopathy syndrome.
Community
No community posts yet. Be the first to share your experience with Cataract-nephropathy-encephalopathy syndrome.
Start the conversation →Latest news about Cataract-nephropathy-encephalopathy syndrome
No recent news articles for Cataract-nephropathy-encephalopathy syndrome.
Follow this condition to be notified when news becomes available.
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 is the current status of my child's kidney function, and how often should it be monitored?,When should cataract surgery be performed, and what are the expected outcomes?,Are there any genetic tests that could help identify the exact cause of this condition in our family?,What developmental therapies would benefit my child the most right now?,What signs of worsening kidney disease or neurological problems should I watch for at home?,Is genetic counseling available to help us understand the risk for future pregnancies?,Are there any clinical trials or research studies that my child might be eligible for?
Common questions about Cataract-nephropathy-encephalopathy syndrome
What is Cataract-nephropathy-encephalopathy syndrome?
Cataract-nephropathy-encephalopathy syndrome is an extremely rare genetic condition that affects three main parts of the body: the eyes, the kidneys, and the brain. The name of the syndrome describes its three key features. "Cataract" refers to clouding of the lens in the eye, which can cause blurred vision or vision loss. "Nephropathy" means kidney disease, which can impair the kidneys' ability to filter waste from the blood properly. "Encephalopathy" refers to brain dysfunction, which can lead to developmental delays, intellectual disability, or other neurological problems. This syndrome ty
How is Cataract-nephropathy-encephalopathy syndrome inherited?
Cataract-nephropathy-encephalopathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cataract-nephropathy-encephalopathy syndrome typically begin?
Typical onset of Cataract-nephropathy-encephalopathy syndrome is infantile. Age of onset can vary across affected individuals.