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 |