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MIRAGE
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Summary
- Synonym
-
- CACP
- CACP syndrome
- CAP syndrome
- Jacobs syndrome
- PAC syndrome
- arthropathy-camptodactyly syndrome
- camptodactyly-arthropathy-pericarditis syndrome
- congenital familial hypertrophic synovitis
- familial fibrosing serositis
- pericarditis-arthropathy-camptodactyly syndrome
- Definition
- A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0090127
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q92954 | Proteoglycan 4 |
