Rhizomelic chondrodysplasia punctata type 1

Common Name(s)

Rhizomelic chondrodysplasia punctata type 1

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by {41:Wanders and Waterham, 2005}). Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia Punctata RCDP2 ({222765}) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT; {602744}) on chromosome 1q42. RCDP3 ({600121}) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS; {603051}) on chromosome 2q31. Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies ({43:Waterham and Ebberink, 2012}).
 

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Condition Specific Organizations

Following organizations serve the condition "Rhizomelic chondrodysplasia punctata type 1" for support, advocacy or research.

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Scientific Literature

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The terms "Rhizomelic chondrodysplasia punctata type 1" returned 1 free, full-text research articles on human participants. First 3 results:

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
 

Author(s): Alison M Motley, Pedro Brites, Lisya Gerez, Eveline Hogenhout, Janet Haasjes, Rob Benne, Henk F Tabak, Ronald J A Wanders, Hans R Waterham

Journal: Am. J. Hum. Genet.. 2002 Mar;70(3):612-24.

 

Rhizomelic chondrodysplasia punctata (RCDP) is a genetically heterogeneous, autosomal recessive disorder of peroxisomal metabolism that is clinically characterized by symmetrical shortening of the proximal long bones, cataracts, periarticular calcifications, multiple joint contractures, ...

Last Updated: 14 Feb 2002

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