Disease Directory Neurofibromatosis-Noonan syndrome
Rare Disease

Neurofibromatosis-Noonan syndrome

Type

Malformation syndrome

Gene

MAP2K2, NF1

About Neurofibromatosis-Noonan syndrome

Neurofibromatosis-Noonan syndrome is a rare disease catalogued by Orphanet (ORPHA:638). It is associated with the MAP2K2, NF1 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 Neurofibromatosis-Noonan syndrome trials.

Search ClinicalTrials.gov for "Neurofibromatosis-Noonan syndrome" or filter by Orphanet code ORPHA:638 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:638)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Neurofibromatosis-Noonan syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Neurofibromatosis-Noonan syndrome. Updated daily.