Overview
SRD5A3-CDG, also known as congenital disorder of glycosylation type Iq or SRD5A3-congenital disorder of glycosylation, is a rare inherited metabolic condition. It is caused by changes (mutations) in the SRD5A3 gene, which plays an important role in a process called glycosylation — the way the body attaches sugar molecules to proteins. When this process does not work properly, many organs and systems in the body can be affected. The condition typically appears in infancy or early childhood. Common features include intellectual disability, eye problems (such as optic atrophy, coloboma, or nystagmus), low muscle tone (hypotonia), movement difficulties (cerebellar ataxia), and sometimes skin abnormalities like ichthyosis (dry, scaly skin). Some children may also have heart defects, liver problems, or skeletal abnormalities. The severity of symptoms can vary widely from person to person. There is currently no cure for SRD5A3-CDG. Treatment focuses on managing individual symptoms and supporting development. This may include physical therapy, occupational therapy, speech therapy, and specialized eye care. A team of specialists typically works together to provide the best care for each patient. Research into congenital disorders of glycosylation is ongoing, and new therapies are being explored.
Also known as:
Key symptoms:
Intellectual disabilityLow muscle tone (floppiness)Eye problems such as vision loss or abnormal eye movementsDifficulty with balance and coordination (ataxia)Dry, scaly skin (ichthyosis)Delayed development and speechSeizuresHeart defectsLiver problemsSmall head size (microcephaly)Abnormal eye structures (coloboma)Optic nerve damageFeeding difficulties in infancySkeletal abnormalities
Clinical phenotype terms (33)— 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 SRD5A3-CDG.
View clinical trials →Clinical Trials
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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 SRD5A3-CDG.
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 child's glycosylation defect, and what organs are most affected?,What therapies should we start right away to support development?,How often should my child have eye exams and heart check-ups?,Are there any clinical trials or experimental treatments available for SRD5A3-CDG?,What should I watch for that would require emergency medical attention?,Should other family members be tested for carrier status?,What educational and support services are available for my child?
Common questions about SRD5A3-CDG
What is SRD5A3-CDG?
SRD5A3-CDG, also known as congenital disorder of glycosylation type Iq or SRD5A3-congenital disorder of glycosylation, is a rare inherited metabolic condition. It is caused by changes (mutations) in the SRD5A3 gene, which plays an important role in a process called glycosylation — the way the body attaches sugar molecules to proteins. When this process does not work properly, many organs and systems in the body can be affected. The condition typically appears in infancy or early childhood. Common features include intellectual disability, eye problems (such as optic atrophy, coloboma, or nysta
How is SRD5A3-CDG inherited?
SRD5A3-CDG follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does SRD5A3-CDG typically begin?
Typical onset of SRD5A3-CDG is infantile. Age of onset can vary across affected individuals.
Which specialists treat SRD5A3-CDG?
16 specialists and care centers treating SRD5A3-CDG are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.