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Metadata
ID DOID:0090127
Name camptodactyly-arthropathy-coxa vara-pericarditis 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.
https://www.ncbi.nlm.nih.gov/pubmed/29397575, https://www.omim.org/entry/208250
Xrefs

MESH:C537560

OMIM:208250

ORDO:2848

SNOMEDCT_US_2020_09_01:771187008

UMLS_CUI:C1859690

Synonyms

arthropathy-camptodactyly syndrome [EXACT]

CACP [EXACT]

CACP syndrome [EXACT]

camptodactyly-arthropathy-pericarditis syndrome [EXACT]

CAP syndrome [EXACT]

congenital familial hypertrophic synovitis [EXACT]

familial fibrosing serositis [EXACT]

Jacobs syndrome [EXACT]

PAC syndrome [EXACT]

pericarditis-arthropathy-camptodactyly syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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