Entity Details
Details
| PrimaryID | 10216 |
| RefseqGene | NG_008248 |
| Symbol | PRG4 |
| Name | proteoglycan 4 |
| Chromosome | 1 |
| Location | 1q31.1 |
| TaxID | 9606 |
| Status | live |
| SourceGenome | genomic |
| SourceOrigin | natural |
| CreationDate | 2000-10-14 |
| ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
| Disease ID | Source | Name | Description |
| 208250 | OMIM | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) | An autosomal recessive disorder characterized by the association of congenital or early-onset camptodactyly and non-inflammatory arthropathy with synovial hyperplasia. Individuals with CACP have normal appearing joints at birth but with advancing age develop joint failure, non-inflammatory synoviocyte hyperplasia and subintimal fibrosis of the synovial capsule. Some patients also manifest progressive coxa vara deformity and/or non-inflammatory pericardial or pleural effusions. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
8 interactions