Disease Directory MEDNIK syndrome
Rare Disease

MEDNIK syndrome

Type

Disease

Gene

AP1B1, AP1S1

About MEDNIK syndrome

MEDNIK syndrome is a rare disease catalogued by Orphanet (ORPHA:171851). It is associated with the AP1B1, AP1S1 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 MEDNIK syndrome trials.

Search ClinicalTrials.gov for "MEDNIK syndrome" or filter by Orphanet code ORPHA:171851 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

Visit website ↗

Orphanet

European reference resource for rare diseases (ORPHA:171851)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting MEDNIK syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for MEDNIK syndrome. Updated daily.