MCID: EXS001
MIFTS: 54

Exostosis malady

Bone diseases category

Summaries for Exostosis

About this section
Sources:
8Disease Ontology, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:63 An exostosis (plural: exostoses) is the formation of new bone on the surface of a bone. Exostoses can... more...

MalaCards: Exostosis, also known as cartilaginous exostosis, is related to hereditary multiple exostoses and chondrosarcoma. An important gene associated with Exostosis is EXTL3 (exostosin-like glycosyltransferase 3), and among its related pathways are Endochondral Ossification and Degradation of the extracellular matrix. The compounds procollagen and Uridine-Diphosphate-N-Acetylgalactosamine have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and lung, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

Disease Ontology:8 A hyperostosis that involves formation of new bone on the surface of preexisting bone.

Aliases & Classifications for Exostosis

About this section
Sources:
8Disease Ontology, 10DISEASES, 60UMLS, 56SNOMED-CT, 27ICD9CM, 39NCIt, 34MeSH, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases


Aliases & Descriptions:

exostosis 8 10
cartilaginous exostosis 60
swimmer's exostosis 8
exostosis of orbit 60
orbital exostosis 8
external exotoses 60
bony outgrowth 8
osteophyte 8
bone spur 8
exostoses 60


External Ids:

Disease Ontology8 DOID:203
ICD9CM27 726.91
NCIt39 C3029
MeSH34 D005096
ICD1025 M25.7

Related Diseases for Exostosis

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Exostosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 126)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary multiple exostoses30.6EXT2, TRPS1, EXTL2, EXTL3, EXTL1, EXT1
2chondrosarcoma30.4BMP2, MMP13, IHH, EXT2, EXT1, ACAN
3hereditary multiple osteochondromas30.4EXT2, EXT1
4arthropathy30.1ACAN, MMP13, BMP2
5brachydactyly30.0TRPS1, IHH
6trichorhinophalangeal syndrome type ii30.0EXT1, TRPS1
7osteosarcoma30.0MMP13, BMP2, EXT1, BGLAP
8osteochondroma29.8BMP2, EXT2, EXT1
9osteoporosis29.8MMP13, BMP2, BGLAP
10osteoarthritis29.8MMP12, BGLAP, BMP2, ACAN, MMP13
11ollier disease29.7EXT1, EXT2
12craniosynostosis29.7BMP2
13cervicitis10.5
14diffuse idiopathic skeletal hyperostosis10.3
15spondylosis10.3
16spasticity multiple exostoses10.2
17gingivitis10.2
18dupuytren subungual exostosis10.2
19exostoses anetodermia brachydactyly type e10.2
20exostoses, multiple, type 210.2
21hyperostosis10.2
22intracranial hypotension10.2
23exostoses, multiple, type 310.2
24craniosynostosis exostoses nevus epibulbar dermoid10.1
25leri weill dyschondrosteosis10.1
26potocki-shaffer syndrome10.1
27plantar fasciitis10.0
28hypophosphatasia10.0
29fasciitis10.0
30periostitis10.0
31pneumothorax10.0
32exostoses, multiple, type 110.0
33proteus syndrome10.0
34short stature10.0BGLAP
35cleidocranial dysplasia10.0BGLAP
36colorectal cancer10.0MMP12, MMP13
37trichorhinophalangeal syndrome type i10.0TRPS1
38osteochondritis dissecans10.0ACAN
39degenerative disc disease10.0BMP2, ACAN
40progressive osseous heteroplasia10.0BGLAP, BMP2
41secondary syphilis10.0EXT1, EXT2, BGLAP, BMP2
42bone carcinoma10.0EXT2, BGLAP, EXT1, BMP2, MMP13
43breast cancer10.0MMP12, BMP2, EXT1, IRS4, MMP13
44ankylosing spondylitis9.9
45carpal tunnel syndrome9.9
46acromegaly9.9
47bicipital tenosynovitis9.9
48thoracic outlet syndrome9.9
49aspiration pneumonia9.9
50pneumonia9.9

Graphical network of the top 20 diseases related to Exostosis:



Diseases related to exostosis

Clinical Features for Exostosis

About this section

Drugs & Therapeutics for Exostosis

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Exostosis

Drug clinical trials:

Search ClinicalTrials for Exostosis

Search NIH Clinical Center for Exostosis

Search CenterWatch for Exostosis

Genetic Tests for Exostosis

About this section

Anatomical Context for Exostosis

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Exostosis:

32
Bone, Spinal cord, Lung, Testes, Skin, Brain, Bone marrow, Breast

Animal Models for Exostosis or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Exostosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1ACAN, COL12A1, MMP13, IHH, BMP2, EXT1
2MP:00053818.6IHH, FAM20B, BMP2, TRPS1, EXT1, ACAN
3MP:00053908.3ACAN, MMP13, IHH, TRPS1, BMP2, EXT2
4MP:00053788.3IRS4, MMP13, IHH, TRPS1, FAM20B, EXT1
5MP:00107687.6EXT2, TRPS1, BMP2, FAM20B, IFIT1, EXTL3

Publications for Exostosis

About this section
Sources:
50PubMed
See all sources

Articles related to Exostosis:

(show top 50)    (show all 397)
idTitleAuthorsYear
1
Multiple recurrences of subungual exostosis in a child: a unique presentation of a Nora's lesion. (23520304)
2013
2
Peroneal nerve palsy due to popliteal pseudoaneurysm in a child with hereditary multiple exostosis. (24326060)
2013
3
Bursa formation with scapular osteochondroma in hereditary multiple exostosis. (23823961)
2013
4
A case of subungual exostosis. (22421652)
2012
5
Craniomaxillofacial features in hereditary multiple exostosis. (22801172)
2012
6
Popliteal artery occlusion secondary to exostosis of the femur. (23793292)
2012
7
Single-stage treatment of complete dislocation of radial head and forearm deformity using distraction osteogenesis in paediatric patients having multiple cartilaginous exostosis. (21298437)
2011
8
Hand ischemia caused by solitary humeral exostosis irritating the brachial artery. (21780057)
2011
9
Buccal-sided mandibular angle exostosis - A rare case report. (22090772)
2011
10
Cervical osteochondroma presenting as brown-sequard syndrome in a child with hereditary multiple exostosis. (19516952)
2009
11
A proposed subungual exostosis clinical classification and treatment plan. (19917738)
2009
12
Subungual exostosis of the big toe. (19690782)
2009
13
Hemothorax caused by a solitary costal exostosis. (19559260)
2009
14
Excision of an atypical case of palatal bone exostosis: a case report. (18587217)
2008
15
Dorsal foot pain due to compression of the deep peroneal nerve by exostosis of the metatarsocuneiform joint. (16166463)
2005
16
Cervical myelopathy caused by an exostosis of the posterior arch of C1. (15736753)
2005
17
Subungual exostosis: a review of 16 cases focusing on postoperative deformity of the nail. (16106166)
2005
18
Cervical cord exostosis compressing the axis in a boy with hereditary multiple exostoses. Case illustration. (14758956)
2004
19
Novel translocation (9;12)(q22;q24) in secondary chondrosarcoma arising from hereditary multiple exostosis. (11801313)
2002
20
Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. (12239711)
2002
21
Subungual exostosis of the third toe. (11712058)
2001
22
Osteosarcoma arising in an exostosis: CT and MR imaging. (11133584)
2001
23
Isolated musculocutaneous neuropathy caused by a proximal humeral exostosis. (10668722)
2000
24
Quiz. Histopathological diagnosis was exostosis with nonunion secondary to probable fracture. (11569045)
1999
25
Osteocartilaginous exostosis of the mandibular condyle misdiagnosed as temporomandibular joint dysfunction. (9619662)
1998
26
Surgical treatment of wrist deformity in hereditary multiple exostosis. (9479778)
1997
27
Femoral exostosis presenting with deep vein and arterial thrombosis. (7648105)
1995
28
Exostosis presenting as solitary loose body in the ankle of two children. (7574432)
1995
29
Scaphoid exostosis causing rupture of the flexor pollicis longus. (8171982)
1994
30
Hereditary multiple exostosis with spinal cord compression in a 13-year-old boy. (8126518)
1994
31
Incidence of brachydactyly and hand exostosis in hereditary multiple exostosis. (1995669)
1991
32
Subungual exostosis. (1793880)
1991
33
Surgical treatment of tarsal sheath effusion associated with an exostosis on the calcaneus of a horse. (2365624)
1990
34
First metatarsal-cuneiform dorsal exostosis: its anatomical relation with the medial dorsal cutaneous nerve. (2584628)
1989
35
Multiple cartilaginous exostosis. (3066895)
1988
36
Management of fractures and exostosis of the metacarpals and metatarsals II and IV in 25 horses. (3622461)
1987
37
Subungual exostosis. Histological and clinical considerations on 30 cases. (3692801)
1987
38
Subungual exostosis. (3748906)
1986
39
Case report 168: chondrosarcomatous transformation in a cartilage-capped exostosis. (7330665)
1981
40
Exostosis: development, evolution and relationship to malignant degeneration. (7347726)
1981
41
Subungual exostosis: treatment as an office procedure. (7391331)
1980
42
Familial exostosis. (315980)
1979
43
The widened spectrum of multiple cartilaginous exostosis (MCE). (1085923)
1975
44
Turret exostosis of the phalanges. (4838398)
1974
45
Carpal and tarsal exostosis in hereditary multiple exostoses. (4965323)
1967
46
Unilateral cervical rib, with exostosis of the first rib and pseudoarthrosis. (5903162)
1966
47
Unilateral hyperplasia and exostosis of the mandibular condyle. A clinical syndrome. (14443787)
1960
48
Subungual exostosis. (13443062)
1957
49
Exostosis of Right External Meatus in a Boy aged 10. (19974647)
1910
50
North Staffordshire Infirmary: Case of Exostosis of the Tibia, and Operation. (20794154)
1847

Genetic Variations for Exostosis

About this section

Expression for genes affiliated with Exostosis

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Exostosis

Search GEO for disease gene expression data for Exostosis.

Pathways for genes affiliated with Exostosis

About this section
Sources:
37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 29KEGG, 51QIAGEN
See all sources

Compounds for genes affiliated with Exostosis

About this section
Sources:
44Novoseek, 11DrugBank, 59Tocris Bioscience, 49PharmGKB, 24HMDB, 28IUPHAR
See all sources

Compounds related to Exostosis according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1procollagen4410.6ACAN
2Uridine-Diphosphate-N-Acetylgalactosamine1110.2ABO, EXTL2
3Uridine-5'-Diphosphate1110.1EXTL2, ABO
4uk 3833675910.1MMP13, MMP12
5alizarin red s4410.0BMP2, BGLAP
6gi 254023x5910.0MMP13, MMP12
7tio24410.0BMP2, BGLAP
8alizarin449.9BGLAP, BMP2
9glycosaminoglycan449.9EXT1, BMP2, MMP13, ACAN
10clodronate44 49 1111.8MMP13, BGLAP
11tgf beta1449.8BMP2, MMP13, ACAN
12alendronate44 49 1111.8BGLAP, BMP2, MMP13
13polyglycolic acid449.8BGLAP, BMP2, ACAN
14agarose449.8ACAN, ABO, MMP13
15gm 6001599.8MMP13, MMP12
16chitosan449.8ACAN, BMP2, BGLAP
17hydroxyapatite449.7MMP13, BMP2, BGLAP
18tetracycline44 1110.6BGLAP, BMP2, MMP13
19alginate449.6BGLAP, BMP2, MMP13, ACAN
20ascorbic acid44 2410.5ACAN, MMP13, BMP2, BGLAP
21sb 20358044 5910.4ACAN, MMP13, BMP2, BGLAP
22dexamethasone44 49 28 1112.2BGLAP, BMP2, MMP13, MMP12, ACAN
23arginine449.1COL4A5, BGLAP, EXT1, EXT2, BMP2, ABO
24heparan sulfate44 2410.1ACAN, BMP2, EXT2, EXTL2, EXTL3, EXTL1

GO Terms for genes affiliated with Exostosis

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Exostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intrinsic to endoplasmic reticulum membraneGO:0312279.2EXT2, EXTL2, EXTL3, EXTL1
2extracellular regionGO:0055767.8COL12A1, BGLAP, EXTL2, BMP2, IHH, MMP13

Biological processes related to Exostosis according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cellular polysaccharide biosynthetic processGO:03369210.3EXT1, EXT2
2heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:01501410.2EXT2, EXT1
3embryonic skeletal joint developmentGO:07249810.1IHH, EXT1
4collagen catabolic processGO:0305749.9MMP12, MMP13, COL12A1, COL4A5
5glycosaminoglycan metabolic processGO:0302039.8ACAN, EXT2, EXT1
6heparan sulfate proteoglycan biosynthetic processGO:0150129.8EXT1, EXTL3, EXTL2, EXT2
7extracellular matrix disassemblyGO:0226179.8MMP12, MMP13, COL12A1, COL4A5
8protein glycosylationGO:0064869.8EXT1, EXTL1, EXT2, ABO
9proteoglycan metabolic processGO:0060299.7IHH, BMP2
10glycosaminoglycan biosynthetic processGO:0060249.7EXT1, EXT2, GALNT5
11bone mineralizationGO:0302829.6MMP13, BMP2, BGLAP
12osteoblast differentiationGO:0016499.4BGLAP, BMP2, IHH
13extracellular matrix organizationGO:0301989.4COL4A5, COL12A1, BMP2, MMP13, MMP12, ACAN
14skeletal system developmentGO:0015018.5ACAN, COL12A1, BGLAP, EXT1, EXTL1, BMP2

Molecular functions related to Exostosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:05050910.2EXT1, EXT2
2heparan sulfate N-acetylglucosaminyltransferase activityGO:04232810.2EXT1, EXT2
3glucuronosyltransferase activityGO:01502010.1EXT2, EXT1
4acetylglucosaminyltransferase activityGO:00837510.0EXT2, EXT1
5glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:0505089.9EXT2, EXTL1, EXT1
6glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:0018889.9EXTL3, EXTL2
7transferase activity, transferring glycosyl groupsGO:0167579.8EXT2, EXT1

Products for genes affiliated with Exostosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Exostosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet