arthropathy—progressive pseudorheumatoid—of childhood

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arthropathy—progressive pseudorheumatoid—of childhood2016-11-24T20:43:45+00:00

arthropathy—progressive pseudorheumatoid—of childhood 

GENETICS

An autosomal recessive disorder (OMIM:208230) characterised by stiffness and swelling of joints, motor weakness and joint contractures of early–between age 3 and 8–onset, accompanied by progressive cartilage loss and bone destruction.

Molecular pathology Defects of WISP3, which encodes a connective tissue growth factor that is essential for normal postnatal skeletal growth and cartilage homeostasis, cause progressive pseudorheumatoid arthropathy of childhood. 

Synonyms Arthropathy—progressive pseudorheumatoid—of childhood, PPAC, progressive pseudorheumatoid arthropathy of childhood, progressive pseudorheumatoid dysplasia, spondyloepiphyseal dysplasia tarda with progressive arthropathy

References http://www.uniprot.org/uniprot/O95389

http://www.omim.org/entry/208230

 

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