MCID: EXS001
MIFTS: 54

Exostosis malady

Bone diseases category

Summaries for Exostosis

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8Disease Ontology, 63Wikipedia, 32MalaCards
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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

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8Disease Ontology, 10DISEASES, 60UMLS, 56SNOMED-CT, 27ICD9CM, 39NCIt, 34MeSH, 25ICD10
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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

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17GeneCards, 18GeneDecks
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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

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Drugs & Therapeutics for Exostosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Exostosis

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Anatomical Context for Exostosis

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32MalaCards
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MalaCards organs/tissues related to Exostosis:

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

Animal Models for Exostosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Exostosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1COL12A1, EXT1, BMP2, IHH, MMP13, ACAN
2MP:00053818.6EXT1, FAM20B, BMP2, TRPS1, IHH, ACAN
3MP:00053908.3ACAN, COL12A1, EXT1, EXT2, FAM20B, BMP2
4MP:00053788.3EXT1, IRS4, FAM20B, BMP2, TRPS1, IHH
5MP:00107687.6COL4A5, COL12A1, EXT1, EXTL3, EXT2, IFIT1

Publications for Exostosis

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50PubMed
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Articles related to Exostosis:

(show top 50)    (show all 397)
idTitleAuthorsYear
1
Computer-assisted local resection for exostosis osteochondroma of the mandibular condyle. (23851898)
2013
2
Pseudoaneurysm of the popliteal artery in a child with multiple hereditary exostosis: a rare case report and literature review. (23748578)
2013
3
Subungual exostosis in an osteoporotic patient treated with teriparatide. (23757619)
2013
4
Successful operative management of an asymptomatic chest lesion in hereditary multiple exostosis. (23907180)
2013
5
Left second rib exostosis, spinal cord compression and left upper thoracic scoliosis: a rare triad. (22977702)
2012
6
Partially irreversible paresis of the deep peroneal nerve caused by osteocartilaginous exostosis of the fibula without affecting the tibialis anterior muscle. (22495012)
2012
7
Exostosis: a donor site for autograft. (22484887)
2011
8
Dangerous costal exostosis: hemothorax mimicking empyema in a child. (20060125)
2010
9
Rapidly developed huge bursitis associated with scapular osteochondroma of the multiple exostosis: a case report. (18682954)
2009
10
Lateral rectus restriction secondary to traumatic orbital exostosis. (19117777)
2009
11
Suture exostosis causing obstruction in the nasolacrimal duct in three horses. (19649018)
2009
12
Bilateral symptomatic snapping biceps femoris tendon due to fibular exostosis. (18300673)
2008
13
Subungual exostosis. (17875905)
2007
14
Multiple exostosis: a short study of abnormalities near the growth plate. (17762677)
2007
15
Two distinctive subungual pathologies: subungual exostosis and subungual osteochondroma. (17559767)
2007
16
Cervical spinal cord compression due to an osteochondroma in hereditary multiple exostosis: case report and review of the literature. (17081854)
2006
17
Hemothorax: an unusual complication of costal exostosis. (16291144)
2005
18
Subungual exostosis of the thumb. (15347497)
2004
19
Acute massive haemopneumothorax due to solitary costal exostosis. (17670137)
2003
20
Ultrastructural abnormalities in cultured exostosis chondrocytes. (12036098)
2002
21
Clinical correlation to genetic variations of hereditary multiple exostosis. (10573350)
1999
22
Excrescent lesion: a diagnosis of lateral talar exostosis in chronically symptomatic sprained ankles. (10353774)
1999
23
Evanescent exostosis. A new case. (10399615)
1999
24
False aneurysm and brachial plexus palsy complicating a proximal humeral exostosis. (9222931)
1997
25
Rapid development of subscapular exostosis bursata. (9144606)
1997
26
Exostosis associated with autogenous gingival grafts: a report of 9 cases. (8794973)
1996
27
Subungual exostosis of a finger resembling pterygium inversum unguis. (8993969)
1996
28
Subungual exostosis: case report and review of the literature. (8806121)
1996
29
Subungual exostosis of the finger. (7503533)
1995
30
Surgical emphysema: a novel complication of aural exostosis surgery. (8027648)
1994
31
Subungual exostosis in a young woman. (7991296)
1994
32
Dyspareunia due to exostosis formation after pelvic fracture. (8251453)
1993
33
Deformities of the forearm in patients who have multiple cartilaginous exostosis. (8419382)
1993
34
Painful solitary subungual nodule. Subungual exostosis (SE). (1599281)
1992
35
The dorsal metatarsal cuneiform exostosis. (1770202)
1991
36
Bony exostosis of the atlas with resultant cranial nerve palsy. (1749482)
1991
37
Digital exostosis arising on the second toe. (1869667)
1991
38
Hand involvement in multiple hereditary exostosis. (2269678)
1990
39
Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis. (2788404)
1989
40
Co-existence of enchondromatosis exostosis and hemangiomata. (3497628)
1987
41
Exostosis as a cause of spinal cord compression. (3490704)
1986
42
Hereditary multiple exostosis: another etiology of short leg and scoliosis. (3878387)
1985
43
Anterior impingement exostosis of the ankle: a hazard to the athlete. (993560)
1976
44
Hereditary multiple exostosis. A comparative genetic evaluation in man and horses. (1219055)
1975
45
Osteocartilaginous exostosis (osteochondroma) of the mandibular condyle: report of case. (5218145)
1966
46
EXOSTOSIS FORMATION AFTER TRAUMATIC AVULSION OF THE ANTERIOR INFERIOR ILIAC SPINE. REPORT OF TWO CASES. (14251456)
1964
47
EXOSTOSIS BURSATA. REPORT OF A CASE. (14216463)
1964
48
Subungual exostosis: case report. (14855417)
1951
49
Ivory Exostosis of the Frontal Sinus. (19975683)
1912
50
General Exostosis of all the Maxillary Teeth. (19976165)
1912

Genetic Variations for Exostosis

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Expression for genes affiliated with Exostosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 29KEGG, 51QIAGEN
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Compounds for genes affiliated with Exostosis

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 49PharmGKB, 24HMDB, 28IUPHAR
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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

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16Gene Ontology
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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

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Sources for Exostosis

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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