Search
rhizomelic chondrodysplasia punctata, type 2; peroxisomal dihydroxyacetonephosphate acyltransferase deficiency
Genetics:
- associated with defects in dihydroxyacetone phosphate acyltransferase (GNPAT)
Clinical manifestations:
- rhizomelic shortening of femur & humerus
- vertebral disorders
- cataracts
- cutaneous lesions
- severe mental retardation
Laboratory:
- dihydroxyacetone phosphate acyltransferase in fibroblasts
Related
dihydroxyacetone phosphate acyltransferase; DAP-AT; DHAP-AT; acyl-CoA:dihydroxyacetonephosphateacyltransferase; glycerone-phosphate O-acyltransferase (GNPAT, DAPAT, DHAPAT)
General
rhizomelic chondrodysplasia punctata
Properties
DEFICIENCY: dihydroxyacetone phosphate acyltransferase
Database Correlations
OMIM correlations
MORBIDMAP 602744
References
UniProt :accession O15228