Disease Directory Familial hypercholanemia
Blood

Familial hypercholanemia

Type

Disease

Gene

EPHX1, TJP2, BAAT, SLC10A1

About Familial hypercholanemia

Familial hypercholanemia is a rare disease catalogued by Orphanet (ORPHA:238475). It is associated with the EPHX1, TJP2, BAAT genes. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Familial hypercholanemia trials.

Search ClinicalTrials.gov for "Familial hypercholanemia" or filter by Orphanet code ORPHA:238475 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

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Orphanet

European reference resource for rare diseases (ORPHA:238475)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Familial hypercholanemia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Familial hypercholanemia. Updated daily.