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GENATLAS PHENOTYPE

last update : 17-01-2009

Symbol	PBD7
Location	6q22
Name	peroxisomal biogenesis disorder, rhizomelic chondrodysplasia punctata spectrum
Other name(s)	PBD complementation group 11 or R rhizomelic chondrodysplasia punctata, type1 Refsum disease
Corresponding gene	PEX7
Other symbol(s)	PEBD7, HMSN4, RCDP
Main clinical features	retinitis pigmentosa, chronic polyneuropathy, and cerebellar signs, with electrocardiographic changes, and deafness and/or ichthyosis
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Gene product

Name

peroxin7

Remark(s)

peroxisomal biogenesis defects can be divided into two broad clinical spectra : the Zellweger spectrum (80 percent of PBD patients) and rhizomelia chondrodysplasia punctata (RCPD) spectrum