Rhizomelic Chondrodysplasia Punctata, Type 5 (RCDP5)

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Disease Ontology 12 DOID:0110854 OMIM 56 616716 OMIM Phenotypic Series 56 PS215100 MeSH 43 D018902

Orphanet 58 ORPHA468717 MedGen 41 C4225237 CN234653 SNOMED-CT via HPO 68 11092001 111533001 128613002 161832001 195967001 205091006 224958001 237836003 246545002 248342006 249808002 258211005 262285001 26544005 271611007 302226006 313307000 386033004 397932003 405946002 40700009 42658009 609587005 74820003 79410001 84757009 89362005 91175000 95662005 991000119106 more

OMIM : ⁵⁶ 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 (summary by Wanders and Waterham, 2005). For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100. (616716)

MalaCards based summary : Rhizomelic Chondrodysplasia Punctata, Type 5, also known as rhizomelic chondrodysplasia punctata type 5, is related to rhizomelic chondrodysplasia punctata and rhizomelic chondrodysplasia punctata, type 1. An important gene associated with Rhizomelic Chondrodysplasia Punctata, Type 5 is PEX5 (Peroxisomal Biogenesis Factor 5), and among its related pathways/superpathways are Acyl chain remodelling of PE and triacylglycerol biosynthesis. Affiliated tissues include bone and eye, and related phenotypes are global developmental delay and microcephaly

Disease Ontology : ¹² A rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.

UniProtKB/Swiss-Prot : ⁷³ Rhizomelic chondrodysplasia punctata 5: A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity.

Clinical features from OMIM:

616716

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