Preferred Label : Rhizomelic chondrodysplasia punctata, type 1;
Symbol : RCDP1;
CISMeF acronym : RCDP1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Chondrodystrophia calcificans punctata; Peroxisome biogenesis disorder 9; Chondrodysplasia punctata, rhizomelic form; CDPR; PBD9;
Description : Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized
by disproportionately short stature primarily affecting the proximal parts of the
extremities, 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 Wanders and Waterham, 2004). 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;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutations in the peroxisomal biogenesis factor-7 gene (PEX7, 601757.0001);
Laboratory abnormalities : Plasmalogen deficiency; Unprocessed 3-oxoacyl CoA thiolase; Elevated plasma phytanic acid; Acyl-CoA:dihydroxyacetonephosphate acyltransferase deficiency;
Prefixed ID : #215100;
Origin ID : 215100;
UMLS CUI : C1859133;
Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
