Rhizomelic chondrodysplasia punctata, type 2

Preferred Label : Rhizomelic chondrodysplasia punctata, type 2;

Symbol : RCDP2;

CISMeF acronym : RCDP2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dhapat deficiency; Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency; Dihydroxyacetonephosphate acyltransferase deficiency; Glyceronephosphate o-acyltransferase deficiency; Gnpat deficiency; Chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glyceronephosphate O-acyltransferase gene (GNPAT, 602744.0001);

Laboratory abnormalities : Decreased plasmalogens; Normal phytanic acid; Decreased dihydroxyacetonephosphate acyltransferase (DHAP-AT) activity;

Prefixed ID : #222765;

Details

Origin ID

222765;

UMLS CUI

C1857242;

Broader ORDO disease(s)
- Rhizomelic chondrodysplasia punctata [ORDO Disease]
Currated CISMeF NLP mapping
- Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata type 2 [ICD-11 More detail]
- Rhizomelic chondrodysplasia punctata type 2 [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 2 (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata, type 2 [MeSH concept]
- rhizomelic chondrodysplasia punctata type 2 [DO Concept]
- rhizomelic chondrodysplasia punctata, type 2 [MeSH Supplementary Concept]
DO Cross reference
- rhizomelic chondrodysplasia punctata type 2 [DO Concept]
Genes related to phenotype
- Glyceronephosphate o-acyltransferase [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calcific stippling [HPO term]
- Cataract [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate short stature [HPO term]
- Failure to thrive [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Irregular vertebral endplates [HPO term]
- Large fontanelles [HPO term]
- Low nasal bridge [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Osteopenia [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Scoliosis [HPO term]
- Short humeri [HPO term]
- Short humerus [HPO term]
- Stippled calcification proximal humeral epiphyses [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Rhizomelic chondrodysplasia punctata [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhizomelic chondrodysplasia punctata type 2 [ORDO Disease]
- Rhizomelic chondrodysplasia punctata type 2 (disorder) [SNOMED CT concept]
- Rhizomelic chondrodysplasia punctata, type 2 [MeSH concept]
- rhizomelic chondrodysplasia punctata type 2 [DO Concept]
- rhizomelic chondrodysplasia punctata, type 2 [MeSH Supplementary Concept]

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