Chondrocalcinosis 1

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

ANKH, POMC, KL, GALNT3, HFE, ALPL, FXYD2, SLC12A3, KCNJ1, CDC73, GCM2, WRN, SLC12A1, PDGFRB, NOTCH3, MEN1, LMNA, GNA11, ATP7A, ATP7B, AP2S1, CLCNKB, ANK1, ENPP1, CCAL1, PTH, HLA-A, TNFRSF11B, INSRR, HLA-B

Drugs

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For a general phenotypic description and a discussion of genetic heterogeneity of chondrocalcinosis, also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), see CCAL2 (118600).

Clinical Features

Baldwin et al. (1995) described a 6-generation New England family (family BU91) in which many members had early-onset CPPDD and severe degenerative osteoarthritis. Onset occurred between ages 25 and 40 years and males and females were equally affected. The authors stated that it was unclear whether the primary event causing the disease was deposition of calcium-containing crystals in joint tissue (caused by a defect in a 'CPPDD gene') that progressed to severe degenerative osteoarthritis or whether degenerative changes in cartilage (resulting from mutation in an 'osteoarthritis gene') enhanced deposition of calcium-containing crystals.

Inheritance

The transmission pattern of chondrocalcinosis and osteoarthritis in the family reported by Baldwin et al. (1995) supported autosomal dominant inheritance.

Mapping

In a New England family with early-onset chondrocalcinosis and severe osteoarthritis, Baldwin et al. (1995) demonstrated genetic linkage between the disease and DNA markers on 8q, with a multipoint lod score of 4.06.