Rhizomelic Chondrodysplasia Punctata (RCP) malady

Disease Ontology:⁸ A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has material basis in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-dhap synthase) gene.

MalaCards: Rhizomelic Chondrodysplasia Punctata, also known as chondrodysplasia punctata, rhizomelic, is related to rhizomelic chondrodysplasia punctata type 1 and chondrodysplasia punctata 2 x-linked dominant. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX7 (peroxisomal biogenesis factor 7), and among its related pathways are Plasmalogen biosynthesis and tryptophan degradation III (eukaryotic). The compounds lignoceric acid and 3-oxoacyl-coa have been mentioned in the context of this disorder. Affiliated tissues include brain, brain and skin, and related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

Genetics Home Reference:²⁰ Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems.

Wikipedia:⁵⁹ Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic... more...

OMIM:

External Ids:

Disease Ontology8 DOID:2580 OMIM43 215100, 600121, 222765 SNOMED-CT52 56692003

NCIt36 C85047 MeSH31 D018902 UMLS56 C0282529

Clinical features from OMIM: