Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1)
Summary
RCDP1 is a peroxisomal disorder caused by deficiency of the PEX7 receptor, which is required for importing certain enzymes into peroxisomes. This disrupts plasmalogen synthesis (a critical membrane lipid) and phytanic acid oxidation.
Practical takeaway
Given the rarity, partner carrier risk is very low. Carrier testing is available if desired. Realised does not calculate reproductive risk or advise on reproductive decisions.
Evidence detail
What Carrier Status Means For You
You are not affected. One working copy of PEX7 is sufficient. Standard 25/50/25 recessive inheritance applies.
Population Context
RCDP1 occurs across all populations at low frequency. Incidence is approximately 1 in 100,000 births. The L292X variant is the most common in Europeans.
Limitations
23andMe tests 1 PEX7 variant. Coverage is minimal. Comprehensive peroxisomal disorder panels cover more variants and genes.