Disease: Rhizomelic Chondrodysplasia Punctata, Type 2

Name Rhizomelic Chondrodysplasia Punctata, Type 2

Synonyms CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC, DUE TO DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY , DHAPAT DEFICIENCY , DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY , GLYCERONEPHOSPHATE O-ACYLTRANSFERASE DEFICIENCY , GNPAT DEFICIENCY , PEROXISOMAL DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY

Classification bone, developmental, eye, genetic, metabolism, neurological

Phenotypes Abnormality of pelvic girdle bone morphology; Anteverted nares; Autosomal recessive inheritance; Calcific stippling; Cataract; Depressed nasal bridge; Failure to thrive; Flexion contracture; Generalized hypotonia; High forehead; High palate; Intellectual disability; Irregular vertebral endplates; Large fontanelles; Microcephaly; Micrognathia; Muscular hypotonia; Osteopenia; Rhizomelia; Scoliosis; Short humerus; Stippled calcification proximal humeral epiphyses; Wide nasal bridge

Associated Genes GNPAT (Withdrawn symbols: DAP-AT, DAPAT, DHAPAT )

Mouse Orthologs Gnpat (Withdrawn symbols: AU019525, D1Ertd819e )

Source OMIM:222765 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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