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rhizomelic chondrodysplasia punctata type 2
Summary
- Synonym
-
- Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
- Dhapat Deficiency
- Dihydroxyacetonephosphate Acyltransferase Deficiency
- Glyceronephosphate O-Acyltransferase Deficiency
- Gnpat 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
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 412 | STS | steroid sulfatase | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 8443 | GNPAT | glyceronephosphate O-acyltransferase | |
| 8540 | AGPS | alkylglycerone phosphate synthase | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 50814 | NSDHL | NAD(P) dependent steroid dehydrogenase-like | |
| 285362 | SUMF1 | sulfatase modifying factor 1 | |
| 347527 | ARSH | arylsulfatase family member H |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002832 | Calcific stippling |
| HP:0000252 | Microcephaly |
| HP:0005792 | Short humerus |
| HP:0001249 | Intellectual disability |
| HP:0010864 | Intellectual disability, severe |
| HP:0001508 | Failure to thrive |
| HP:0000463 | Anteverted nares |
| HP:0003498 | Disproportionate short stature |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002650 | Scoliosis |
