Disease Directory Constitutional mismatch repair deficiency syndrome
Rare Disease

Constitutional mismatch repair deficiency syndrome

Type

Disease

Gene

PMS2, MLH1, MSH2, MSH6

About Constitutional mismatch repair deficiency syndrome

Constitutional mismatch repair deficiency syndrome is a rare disease catalogued by Orphanet (ORPHA:252202). It is associated with the PMS2, MLH1, MSH2 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 Constitutional mismatch repair deficiency syndrome trials.

Search ClinicalTrials.gov for "Constitutional mismatch repair deficiency syndrome" or filter by Orphanet code ORPHA:252202 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:252202)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Constitutional mismatch repair deficiency syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Constitutional mismatch repair deficiency syndrome. Updated daily.