Disease Directory Familial isolated congenital asplenia
Rare Disease

Familial isolated congenital asplenia

Type

Morphological anomaly

Gene

NKX2-5, RPSA

About Familial isolated congenital asplenia

Familial isolated congenital asplenia is a rare disease catalogued by Orphanet (ORPHA:101351). It is associated with the NKX2-5, RPSA 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 isolated congenital asplenia trials.

Search ClinicalTrials.gov for "Familial isolated congenital asplenia" or filter by Orphanet code ORPHA:101351 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:101351)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Familial isolated congenital asplenia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Familial isolated congenital asplenia. Updated daily.