Details of Disease | DrugMAP

General Information of Disease (ID: DISD2C41)

Disease Name	Rhizomelic chondrodysplasia punctata type 2
Synonyms	RCDP2; chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate; rhizomelic chondrodysplasia punctata type 2; Dhapat deficiency; GNPAT rhizomelic chondrodysplasia punctata; Rcdp2; rhizomelic chondrodysplasia punctata, type 2; peroxisomal dihydroxyacetonephosphate acyltransferase deficiency; chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency; Glyceronephosphate O-acyltransferase deficiency; Dihydroxyacetonephosphate acyltransferase deficiency; type 2 rhizomelic chondrodysplasia punctata; Gnpat deficiency; rhizomelic chondrodysplasia punctata caused by mutation in GNPAT
Definition	Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.
Disease Hierarchy	DISF3YE7: Rhizomelic chondrodysplasia punctata DISN8INP: Glyceronephosphate O-acyltransferase deficiency DISD2C41: Rhizomelic chondrodysplasia punctata type 2
Disease Identifiers	MONDO ID MONDO_0009112 MESH ID C537607 UMLS CUI C1857242 OMIM ID 222765 MedGen ID 341734 Orphanet ID 309796 SNOMED CT ID 1003860009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNPAT	OTF6LWPO	Definitive	Autosomal recessive	[1]
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References

1	Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. Am J Med Genet. 1998 Nov 16;80(3):223-6.