Back to Database

PEX7-sEDD

Previously: Peroxisome biogenesis disorder

sEDD Gene: PEX7 AR

Onset: Childhood to adolescence

Pathway: Lipid synthesis and transport

Category Paper: sEDD Paper

Key Clinical Clues

FLG-nEDD-like scaling.

Additional Cutaneous Features

FLG-nEDD-like scaling.

Additional Extracutaneous Features

Peripheral neuropathy; retinitis pigmentosa/cataracts.

References

Motley AM, Brites P, Gerez L et al. Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am J Hum Genet 2002; 70:612-24. || Fallatah W, Schouten M, Yergeau C et al. Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata. J Inherit Metab Dis 2021; 44:1021-38.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer