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Table 2 Structural gene mutations in cartilage that result in abnormal cartilage matrix

From: The role of structural genes in the pathogenesis of osteoarthritic disorders

OMIM# Gene name Gene symbol Diseases and disorders
12140 Collagen, type II α1 COL2A1 Achondrogenesis, type II
    Achondrogenesis-hypochondrogenesis, type II
    Epiphyseal dysplasia, multiple, with myopia and conductive deafness
    Hypochondrogenesis
    Kniest dysplasia
    Osteoarthritis with mild dysplasia
    Spondyloepiphyseal dysplasia, congenital type
    Spondyloepiphyseal dysplasia, Namaqualand type
    Spondyloepiphyseal dysplasia, Strudwick type
    Spondyloepiphyseal dysplasia, various types
    Spondyloepiphyseal dysplasia with precocious OA
    Spondyloperipheral dysplasia
    Stickler syndrome, type I
    Wagner syndrome
120180 Collagen, type III α1 COL3A1 Arterial and aortic aneurysm
    Ehlers–Danlos syndrome, types III and IV
120220 Collagen, type VI α1 COL6A1 Bethlem myopathy
120240 Collagen, type VI α2 COL6A2 Bethlem myopathy
    Ullrich scleroatonic muscular dystrophy
120250 Collagen, type VI α3 COL6A3 Bethlem myopathy
120210 Collagen, type IX α1 COL9A1 Epiphyseal dysplasia, multiple, type 1
    Intervertebral disk disease
120260 Collagen, type IX α2 COL9A2 Epiphyseal dysplasia, multiple, type 2
    Intervertebral disk disease
120270 Collagen, type IX α3 COL9A3 Epiphyseal dysplasia, multiple, type 3
    Epiphyseal dysplasia, multiple, with myopathy
120110 Collagen, type X α1 COL10A1 Metaphyseal chondrodysplasia, Schmid type
    Spondylometaphyseal dysplasia, Japanese type
120260 Collagen, type XI α1 COL11A1 Stickler syndrome, type II
    Marshall syndrome
120290 Collagen, type XI α2 COL11A2 Sensorineural deafness, autosomal dominant nonsyndromic
    Otospondylomegaepiphyseal dysplasia
    Stickler syndrome, type III
    Weissenbacher–Zweymuller syndrome
600310 Cartilage oligomeric matrix protein COMP Pseudoachondroplasia
    Epiphyseal dysplasia, multiple, Fairbanks type
    Epiphyseal dysplasia, multiple, type 1
602109 Matrilin-3 MATN3 Multiple epiphyseal dysplasia, MATN3-related
    Epiphyseal dysplasia, multiple, type 5
134797 Fibrillin FBN1 Marfan syndrome, various type
    Ectopia lentis, familial
    Marfanoid skeletal syndrome
    MASS syndrome
    Shprintzen–Goldberg syndrome
154870 Matrix γ-carboxyglutamic acid protein MGP Keutel syndrome
142461 Perlecan PLC Schwartz–Jampel syndrome, type 1
    Dyssegmental dysplasia, Silverman–Handmaker type
    Chondrodystrophic myotonia
222600 Diastrophic dysplasia sulfate transporter DTDST Achondrogenesis IB
    Atelostogenesis type II
    Diastrophic dysplasia
    Epiphyseal dysplasia, multiple type 4
    Diastrophic dysplasia, broad-bone–platyspondylic variant
604283 Proteoglycan 4 PRG4 Camptodactyly–arthropathy–coxa vara–pericarditis syndrome
605145 ANK ANKH Craniometaphyseal dysplasia, autosomal dominant
    Chondrocalcinosis 2
  1. MASS, mitral valve, aorta, skeleton, skin; OA, osteoarthritis; OMIM, Online Mendelian Inheritance in Man™.