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MIRAGE
rhizomelic chondrodysplasia punctata type 2
Summary
- Synonym
-
- Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
- DHAPAT deficiency
- Dihydroxyacetonephosphate Acyltransferase Deficiency
- GNPAT deficiency
- Glyceronephosphate O-Acyltransferase Deficiency
- Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
- RCDP2
- Definition
- A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2.
- Super Class
- rhizomelic chondrodysplasia punctata
External Links
- Disease Ontology
- DOID:0110852
- Mondo Disease Ontology
- MeSH
- ORDO
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15228 | Dihydroxyacetone phosphate acyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000239 | Large fontanelles |
| HP:0005280 | Depressed nasal bridge |
| HP:0000938 | Osteopenia |
| HP:0010655 | Epiphyseal stippling |
| HP:0001371 | Flexion contracture |
| HP:0000431 | Wide nasal bridge |
| HP:0003417 | Coronal cleft vertebrae |
| HP:0010920 | Zonular cataract |
| HP:0001252 | Hypotonia |
| HP:0008838 | Stippled calcification proximal humeral epiphyses |
