Disease Directory Amelocerebrohypohidrotic syndrome
Rare Disease

Amelocerebrohypohidrotic syndrome

Type

Malformation syndrome

Gene

SLC13A5, ROGDI

About Amelocerebrohypohidrotic syndrome

Amelocerebrohypohidrotic syndrome is a rare disease catalogued by Orphanet (ORPHA:1946). It is associated with the SLC13A5, ROGDI 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 Amelocerebrohypohidrotic syndrome trials.

Search ClinicalTrials.gov for "Amelocerebrohypohidrotic syndrome" or filter by Orphanet code ORPHA:1946 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:1946)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Amelocerebrohypohidrotic syndrome trials

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