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camptodactyly-arthropathy-coxa vara-pericarditis syndrome

Disease Summary
Associated Targets (4)
Tbio

4


Explore Associated Targets
Mondo Description Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.
Uniprot Description 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.
Disease Ontology Description An autosomal recessive disease 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 homozygous mutation in the PRG4 gene on chromosome 1q31.
Mondo Term and Equivalent IDs
MONDO:0008828:  camptodactyly-arthropathy-coxa vara-pericarditis syndrome
EFO:0009028: 
GARD:0000306: 
MESH:C537560: 
Orphanet:2848: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)