Table 1.
Selected genes causal to skeletal diseases and disorders
| OMIM # | Gene name | Gene symbol | Diseases and disorders |
| 114290 | Sry-related HMG-box gene 9 | SOX9 | Acampomelic campomelic dysplasia |
| Campomelic dysplasia | |||
| Campomelic dysplasia with autosomal sex reversal | |||
| 120110 | Collagen, type X alpha-1 | COL10A1 | Metaphyseal chondrodysplasia, Schmid type |
| Spondylometaphyseal dysplasia, Japanese type | |||
| 120140 | Collagen, type II alpha-1 | COL2A1 | Achondrogenesis, type II |
| Achondrogenesis-hypochondrogenesis, type II | |||
| Hypochondrogenesis | |||
| Kniest dysplasia | |||
| Osteoarthritis with mild chondrodysplasia | |||
| Spondyloepimetaphyseal dysplasia, Strudwick type | |||
| Spondyloepiphyseal dysplasia, various types | |||
| Spondylometaphyseal dysplasia, congenital type | |||
| Spondyloperipheral dysplasia | |||
| Stickler syndrome, type I | |||
| Wagner syndrome | |||
| 120150 | Collagen, type I alpha-1 | COL1A1 | Ehlers–Danlos syndrome, types I and VIIA |
| Osteogenesis imperfecta, types I, II, III, and IV | |||
| 120160 | Collagen, type I alpha-2 | COL1A2 | Ehlers–Danlos syndrome, type VII-B |
| Osteogenesis imperfecta, types II, III, and IV | |||
| Osteogenesis imperfecta/Ehlers–Danlos crossover syndrome | |||
| Marfan syndrome, atypical | |||
| 120180 | Collagen, type III alpha-1 | COL3A1 | Arterial and aortic aneurysms |
| Ehlers–Danlos syndrome, types III and IV | |||
| 120190 | Collagen, type V alpha-2 | COL5A2 | Ehlers–Danlos syndrome, types I and II |
| 120215 | Collagen, type V alpha-1 | COL5A1 | Ehlers–Danlos syndrome, types I, II, and mixed type |
| 120260 | Collagen, type IX alpha-2 | COL9A2 | Epiphyseal dysplasia, multiple, type 2 |
| Intervertebral disc disease | |||
| 120270 | Collagen, type IX alpha-3 | COL9A3 | Epiphyseal dysplasia, multiple, type 3 |
| Epiphyseal dysplasia, multiple, with myopathy | |||
| 120280 | Collagen, type XI alpha-1 | COL11A1 | Stickler syndrome, type II |
| Marshall syndrome | |||
| 120290 | Collagen, type XI alpha-2 | COL11A2 | Sensorineural deafness, autosomal dominant nonsyndromic |
| Otospondylomegaepiphyseal dysplasia | |||
| Stickler syndrome, type III | |||
| Weissenbacher–Zweymuller syndrome | |||
| 120360 | Matrix metalloproteinase 2 | MMP2 | Osteolysis, idiopathic, Saudi type |
| 121050 | Fibrillin 2 | FBN2 | Contractural arachnodactyly, congenital |
| 123101 | Muscle segment homeobox 2 | MSX2 | Craniosynostosis, Boston-type |
| Parietal foramina 1 | |||
| 125505 | Deoxyribonuclease I | DNASE1 | Systemic lupus erythematosus susceptibility |
| 133700 | Exostosin 1 | EXT1 | Exostoses, multiple, type 1 |
| Chondrosarcoma | |||
| 133701 | Exostosin 2 | EXT2 | Exostoses, multiple, type II |
| 134797 | Fibrillin 1 | FBN1 | Marfan syndrome, various types |
| Ectopia lentis, familial | |||
| Marfanoid skeletal syndrome | |||
| Mass syndrome | |||
| Shprintzen-Goldberg syndrome | |||
| 134934 | Fibroblast growth factor receptor 3 | FGFR3 | Achondroplasia |
| Crouzon syndrome with acanthosis nigricans | |||
| Hypochondroplasia | |||
| Muenke syndrome | |||
| Multiple myeloma | |||
| Saddan dysplasia | |||
| Thanatophoric dysplasia, types I and II | |||
| 136350 | Fibroblast growth factor receptor 1 | FGFR1 | Pfeiffer syndrome |
| 139250 | Growth hormone 1 | GH1 | Growth hormone deficiency |
| Isolated growth hormone deficiency, type I | |||
| Kowarski syndrome | |||
| 139320 | Guanine nucleotide-binding protein, | GNAS1 | Mccune–Albright syndrome |
| alpha-stimulating activity polypeptide 1 | Albright hereditary osteodystrophy | ||
| Pituitary adenoma, ACTH-secreting | |||
| 142461 | Heparan sulfate proteoglycan | HSPG2 | Schwartz–Jampel syndrome, type 1 |
| of basement membrane, perlecan | Dyssegmental dysplasia, Silverman–Handmaker type | ||
| 142958 | Homeobox A11 | HOXA11 | Radioulnar synostosis with amegakaryocytic thrombocytopenia |
| 147620 | Interleukin 6 | IL6 | Interleukin 6 polymorphism associated with systemic onset |
| juvenile rheumatoid arthritis | |||
| 154870 | Matrix gamma-carboxyglutamic | MGP | Keutel syndrome |
| acid protein | |||
| 156845 | Microphthalmia-associated | MITF | Waardenburg syndrome, type IIA |
| transcription factor | Tietz albinism–deafness syndrome | ||
| 157660 | Mitochondrial RNA-processing | RMRP | Cartilage–hair hypoplasia |
| endoribonuclease (RNA component of) | |||
| 168450 | Parathyroid hormone | PTH | Hypoparathyroidism |
| 168468 | Parathyroid hormone receptor 1 | PTHR1 | Metaphyseal chondrodysplasia, Murk Jansen type |
| Chondrodysplasia, Blomstrand type | |||
| 176943 | Fibroblast growth factor receptor 2 | FGFR2 | Apert syndrome |
| Beare–Stevenson cutis gyrata syndrome | |||
| Craniosynostosis, nonsyndromic unicoronal | |||
| Crouzon syndrome | |||
| Jackson–Weiss syndrome | |||
| Pfeiffer syndrome | |||
| Saethre–Chotzen syndrome | |||
| 190180 | Transforming growth factor, beta-1 | TGFB1 | Camurati–Engelmann disease |
| 193500 | Paired box gene 3 | PAX3 | Waardenburg syndrome, types I, II, and III |
| Waardenburg syndrome with meningomyelocele | |||
| Rhabdomyosarcoma, alveolar | |||
| Craniofacial–deafness–hand syndrome | |||
| 203500 | Homogentisate 1,2-dioxygenase | HGD | Alkaptonuria |
| 217000 | Complement component 2 | C2 | Complement component 2 deficiency |
| 222600 | Solute carrier family 26, member 2 | SLC26A2 | Achondrogenesis, type IB |
| Atelosteogenesis, type II | |||
| Diastrophic dysplasia | |||
| 249100 | Familial Mediterranean fever gene | MEFV | Familial Mediterranean fever |
| 277900 | ATPase, Cu(2+)-transporting, | ATP7B | Wilson Disease |
| beta polypeptide | |||
| 300202 | Sedlin | SEDL | Spondyloepiphyseal dysplasia, late |
| 300300 | Bruton agammaglobulinemia | BTK | Agammaglobulinemia, X-linked associated with |
| tyrosine kinase | septic arthritis | ||
| 308000 | Hypoxanthine guanine | HPRT1 | Gout, HPRT-related |
| phosphoribosyltransferase 1 | Lesch–Nyhan syndrome | ||
| 311850 | Phosphoribosylpyrophosphate | PRPS1 | Gout, PRPS-related |
| synthetase I | |||
| 312865 | Short stature homeobox | SHOX | Short stature, idiopathic |
| Leri–Weill dyschondrosteosis | |||
| Langer mesomelic dysplasia | |||
| 600211 | Runt-related transcription factor 2 | RUNX2 | Cleidocranial dysplasia |
| 600310 | Cartilage oligomeric matrix protein | COMP | Epiphyseal dysplasia |
| Pseudoachondroaplasia | |||
| 600725 | Sonic hedgehog | SHH | Holoprosencephaly 3 |
| 600726 | Indian hedgehog | IHH | Brachydactyly type A1 |
| 600856 | Cyclin-dependent kinase inhibitor 1C | CDKN1C | Beckwith–Wiedemann syndrome |
| 600946 | Growth hormone receptor | GHR | Laron syndrome |
| Short stature, autosomal dominantand idiopathic | |||
| 601105 | Cathepsin K | CTSK | Pycnodysostosis |
| 601146 | Growth/differentiation factor 5 | GDF5 | Acromesomelic dysplasia, Hunter–Thompson type |
| Brachydactyly, type C | |||
| Chondrodysplasia, Grebe type | |||
| 601199 | Calcium-sensing receptor | CASR | Hypercalciuric hypercalcemia |
| Hypercalciuric hypocalcemia | |||
| Hyperparathyroidism | |||
| Hypocalcemia | |||
| Hypocalciuric hypercalcemia | |||
| Hypoparathyroidism, various types | |||
| 601309 | Patched | PTCH | Basal cell nevus syndrome |
| Basal cell carcinoma, sporadic | |||
| 601769 | Vitamin D receptor | VDR | Vitamin D-resistant rickets, type II |
| 602109 | Matrilin 3 | MATN3 | Multiple epiphyseal dysplasia |
| 602337 | Receptor tyrosine kinase-like | ROR2 | Brachydactyly, type B1 |
| Orphan receptor 2 | Robinow syndrome, autosomal recessive | ||
| 602365 | Cathepsin C | CTSC | Papillon–Lefevre syndrome |
| Haim–Munk syndrome | |||
| 602727 | Chloride channel 7 | CLCN7 | Osteopetrosis, Autosomal Recessive, Infantile Malignant |
| 602991 | Noggin | NOG | Symphalangism, proximal |
| Multiple synostoses syndrome 1 | |||
| 603400 | Wnt1-inducible signaling | WISP3 | Arthropathy, progressive pseudorheumatoid of childhood |
| pathway protein 3 | |||
| 603499 | Tumor necrosis factor receptor | TNFRSF11A | Expansile osteolysis, familial |
| superfamily, 11A | Paget disease of bone 2 | ||
| 604142 | Tyro protein tyrosine | TYROBP | Polycystic lipomembranous osteodysplasia with sclerosing |
| kinase-binding protein | leukoencephalopathy | ||
| 604283 | Proteoglycan 4 | PRG4 | Camptodactyly–arthropathy–coxa vara–pericarditis syndrome |
| 604592 | T cell immune regulator 1 | TCIRG1 | Osteopetrosis, autosomal recessive |
| 604831 | Ellis–Van Creveld syndrome gene | EVC | Ellis-Van Creveld syndrome |
| Weyers acrodental dysostosis | |||
| 605145 | Ank | ANKH | Craniometaphyseal dysplasia, autosomal dominant |
| 605380 | Fibroblast growth factor 23 | FGF23 | Hypophosphatemic rickets, autosomal dominant |
| 605420 | Aristaless-like 4, | ALX4 | Parietal foramina 2 |
| 605740 | Sclerostin | SOST | Sclerosteosis |
Mutations in a number of genes have been shown to cause congenital skeletal disorders, often with defects in cartilage formation as the primary basis. Others predispose the individual towards skeletal diseases such as arthritis. The completed sequence of the human genome opens the door for rapid identification of additional genetic mutations associated with human diseases and disorders. Functional genomics and the characterization of molecular mechanisms bridging genotypes to phenotypes are our challenges to realize solutions for the prevention, detection, diagnosis and therapy of these diseases and disorders. Data extracted from Online Mendelian Inheritance in Man (OMIM) [113].