DISEASES

Disease-gene associations mined from literature

Human genes for camptodactyly-arthropathy-coxa vara-pericarditis syndrome

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [DOID:0090127]

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.

Synonyms:  camptodactyly-arthropathy-coxa vara-pericarditis syndrome,  DOID:0090127,  camptodactylyarthropathycoxa varapericarditis syndrome,  camptodactyly-arthropathy-coxa vara-pericarditis disease,  camptodactyly-arthropathy-coxa vara-pericarditis disorder ...