Congenital bile acid synthesis defect type 2

Last reviewed

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ORPHA:79303OMIM:235555K76.8
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8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Also known as:

Clinical phenotype terms— hover any for plain English:

Giant cell hepatitisHP:0200084Extramedullary hematopoiesisHP:0001978SteatorrheaHP:0002570Fat malabsorptionHP:0002630Conjugated hyperbilirubinemiaHP:0002908Abnormality of the coagulation cascadeHP:0003256
Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Congenital bile acid synthesis defect type 2.

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No actively recruiting trials found for Congenital bile acid synthesis defect type 2 at this time.

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No specialists are currently listed for Congenital bile acid synthesis defect type 2.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Congenital bile acid synthesis defect type 2.

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Community

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Latest news about Congenital bile acid synthesis defect type 2

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Caregiver Resources

NORD Caregiver Resources

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Mental Health Support

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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.