Table 2 |
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Structural gene mutations in cartilage that result in abnormal cartilage matrix |
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| OMIM# |
Gene name |
Gene symbol |
Diseases and disorders |
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|
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| 12140 |
Collagen, type II α1 |
COL2A1 |
Achondrogenesis, type II |
| Achondrogenesis-hypochondrogenesis, type II |
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| Epiphyseal dysplasia, multiple, with myopia and conductive deafness |
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| Hypochondrogenesis |
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| Kniest dysplasia |
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| Osteoarthritis with mild dysplasia |
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| Spondyloepiphyseal dysplasia, congenital type |
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| Spondyloepiphyseal dysplasia, Namaqualand type |
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| Spondyloepiphyseal dysplasia, Strudwick type |
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| Spondyloepiphyseal dysplasia, various types |
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| Spondyloepiphyseal dysplasia with precocious OA |
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| Spondyloperipheral dysplasia |
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| Stickler syndrome, type I |
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| Wagner syndrome |
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| 120180 |
Collagen, type III α1 |
COL3A1 |
Arterial and aortic aneurysm |
| Ehlers–Danlos syndrome, types III and IV |
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| 120220 |
Collagen, type VI α1 |
COL6A1 |
Bethlem myopathy |
| 120240 |
Collagen, type VI α2 |
COL6A2 |
Bethlem myopathy |
| Ullrich scleroatonic muscular dystrophy |
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| 120250 |
Collagen, type VI α3 |
COL6A3 |
Bethlem myopathy |
| 120210 |
Collagen, type IX α1 |
COL9A1 |
Epiphyseal dysplasia, multiple, type 1 |
| Intervertebral disk disease |
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| 120260 |
Collagen, type IX α2 |
COL9A2 |
Epiphyseal dysplasia, multiple, type 2 |
| Intervertebral disk disease |
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| 120270 |
Collagen, type IX α3 |
COL9A3 |
Epiphyseal dysplasia, multiple, type 3 |
| Epiphyseal dysplasia, multiple, with myopathy |
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| 120110 |
Collagen, type X α1 |
COL10A1 |
Metaphyseal chondrodysplasia, Schmid type |
| Spondylometaphyseal dysplasia, Japanese type |
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| 120260 |
Collagen, type XI α1 |
COL11A1 |
Stickler syndrome, type II |
| Marshall syndrome |
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| 120290 |
Collagen, type XI α2 |
COL11A2 |
Sensorineural deafness, autosomal dominant nonsyndromic |
| Otospondylomegaepiphyseal dysplasia |
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| Stickler syndrome, type III |
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| Weissenbacher–Zweymuller syndrome |
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| 600310 |
Cartilage oligomeric matrix protein |
COMP |
Pseudoachondroplasia |
| Epiphyseal dysplasia, multiple, Fairbanks type |
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| Epiphyseal dysplasia, multiple, type 1 |
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| 602109 |
Matrilin-3 |
MATN3 |
Multiple epiphyseal dysplasia, MATN3-related |
| Epiphyseal dysplasia, multiple, type 5 |
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| 134797 |
Fibrillin |
FBN1 |
Marfan syndrome, various type |
| Ectopia lentis, familial |
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| Marfanoid skeletal syndrome |
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| MASS syndrome |
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| Shprintzen–Goldberg syndrome |
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| 154870 |
Matrix γ-carboxyglutamic acid protein |
MGP |
Keutel syndrome |
| 142461 |
Perlecan |
PLC |
Schwartz–Jampel syndrome, type 1 |
| Dyssegmental dysplasia, Silverman–Handmaker type |
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| Chondrodystrophic myotonia |
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| 222600 |
Diastrophic dysplasia sulfate transporter |
DTDST |
Achondrogenesis IB |
| Atelostogenesis type II |
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| Diastrophic dysplasia |
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| Epiphyseal dysplasia, multiple type 4 |
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| Diastrophic dysplasia, broad-bone–platyspondylic variant |
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| 604283 |
Proteoglycan 4 |
PRG4 |
Camptodactyly–arthropathy–coxa vara–pericarditis syndrome |
| 605145 |
ANK |
ANKH |
Craniometaphyseal dysplasia, autosomal dominant |
| Chondrocalcinosis 2 |
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|
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MASS, mitral valve, aorta, skeleton, skin; OA, osteoarthritis; OMIM, Online Mendelian Inheritance in Man™. |
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Reginato and Olsen Arthritis Res 2002 4:337 doi:10.1186/ar595 |
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