Rhizomelic Chondrodysplasia Punctata (Subscribe)  

"An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata." Rhizomelic chondrodysplasia punctata may cause or feature...

rhizomelic chondrodysplasia punctata type 1 is caused by mutations in the PEX7 gene (601757), which encodes the peroxisomal type 2 targeting signal (PTS2) receptor. RCDP is a rare, multisystem, developmental disorder, characterized by the presence of stippled foci of calcification in hyaline cartilage, coronal vertebral clefting, dwarfing, joint contractures, congenital cataract,...

DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY DHAPAT DEFICIENCY GLYCERONEPHOSPHATE O-ACYLTRANSFERASE DEFICIENCY GNPAT DEFICIENCY PEROXISOMAL DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC, DUE TO DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY patients with type 2 rhizomelic chondrodysplasia punctata (RCDP2) show deficiency of the enzyme acyl-CoA:dihydroxyacetonephosphate acyltransferase (DHAPAT; 602744). Wanders et al. (1992) described a patient showing all the clinical features of rhizomelic chondrodysplasia punctata (see RCDP1;...

ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE DEFICIENCY ALKYLGLYCERONE-PHOSPHATE SYNTHASE DEFICIENCY AGPS DEFICIENCY type 3 rhizomelic chondrodysplasia punctata (RCDP3) is caused by mutations in the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene (AGPS; 603051). Type 1 RCDP (215100) results from a defect in the PEX7 gene (601757). In type 2 RCDP (RCDP2; 222765), there is an isolated deficiency of DHAP...

Rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata which present with rhizomelia. Type 1 is associated with PEX7 Type 2 is associated with DHAPAT Type 3 is associated with AGPS (gene)