Aliases & Classifications for Exostosis

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Exostosis, Aliases & Descriptions:

Name: Exostosis 9 11
Osteophyte 9 60
Cartilaginous Exostosis 60
Swimmer's Exostosis 9
Exostosis of Orbit 60
 
External Exotoses 60
Orbital Exostosis 9
Bony Outgrowth 9
Exostoses 60
Bone Spur 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:203
MeSH33 D005096
NCIt38 C3029
ICD9CM27 726.91
ICD1025 M25.7

Summaries for Exostosis

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Wikipedia:63 An exostosis (plural: exostoses) is the formation of new bone on the surface of a bone, because of... more...

MalaCards based summary: Exostosis, also known as osteophyte, is related to osteochondroma and chondrosarcoma. An important gene associated with Exostosis is EXTL3 (exostosin-like glycosyltransferase 3), and among its related pathways are Heparan sulfate/heparin (HS-GAG) metabolism and Degradation of the extracellular matrix. The compounds arginine and Uridine diphosphate-N-acetylglucosamine have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and lung, and related mouse phenotypes are skeleton and mortality/aging.

Disease Ontology:9 A hyperostosis that involves formation of new bone on the surface of preexisting bone.

Related Diseases for Exostosis

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

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondroma31.2EXT1, EXT2
2chondrosarcoma30.7EXT1, POMGNT2, EXT2
3trichorhinophalangeal syndrome, type ii30.3EXT1, TRPS1
4hereditary multiple osteochondromas30.3EXT2, EXT1
5hereditary multiple exostoses30.1EXTL3, EXTL1, EXTL2, POMGNT2, TRPS1, EXT1
6osteoarthritis29.6BGLAP, MMP12, POMGNT2
7cervicitis10.6
8diffuse idiopathic skeletal hyperostosis10.4
9aneurysm10.4
10spondylosis10.3
11dupuytren subungual exostosis10.3
12intracranial hypotension10.3
13gingivitis10.3
14hyperostosis10.2
15ollier disease10.2EXT1, EXT2
16arthropathy10.1
17autosomal dominant disease10.1EXT2, EXT1
18plantar fasciitis10.1
19hypophosphatasia10.1
20fasciitis10.1
21exostoses, multiple, type 110.1
22brachydactyly10.1
23periostitis10.1
24pneumothorax10.1
25scoliosis10.1
26acromegaly10.0
27thoracic outlet syndrome10.0
28superior mesenteric artery syndrome10.0
29bicipital tenosynovitis10.0
30aspiration pneumonia10.0
31pneumonia10.0
32spondylitis10.0
33back pain10.0
34venous thoracic outlet syndrome10.0
35bone cancer10.0BGLAP, EXT1, EXT2
36secondary syphilis10.0BGLAP, EXT2, EXT1
37schizophrenia9.9
38rheumatoid arthritis9.9
39fibrodysplasia ossificans progressiva9.9
40osteoporosis9.9
41legg-calve-perthes disease9.9
42escobar syndrome9.9
43arthritis9.9
44joint disorders9.9
45pseudoarthrosis9.9
46sinusitis9.9
47heel spur9.9
48syringomyelia9.9
49osteoblastoma9.9
50juvenile rheumatoid arthritis9.9

Graphical network of the top 20 diseases related to Exostosis:



Diseases related to exostosis

Symptoms for Exostosis

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Drugs & Therapeutics for Exostosis

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Drug clinical trials:

Search ClinicalTrials for Exostosis

Search NIH Clinical Center for Exostosis

Genetic Tests for Exostosis

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Anatomical Context for Exostosis

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MalaCards organs/tissues related to Exostosis:

31
Bone, Spinal cord, Lung, Bone marrow, Brain, Breast, Skin, Testes

Animal Models for Exostosis or affiliated genes

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MGI Mouse Phenotypes related to Exostosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.1TRPS1, EXT1, EXT2, COL12A1, FAM20B
2MP:00107687.9COL4A5, COL12A1, EXT2, EXTL3, EXT1, TRPS1

Publications for Exostosis

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Articles related to Exostosis:

(show top 50)    (show all 418)
idTitleAuthorsYear
1
Exostosis of the Internal Auditory Canal: 10-Year Follow-Up. (25440938)
2014
2
Subungual exostosis. (24787537)
2014
3
Thoracoscopic findings of an asymptomatic solitary costal exostosis: is surgical intervention required? (22914805)
2012
4
Turret exostosis of the talus. (20608619)
2010
5
A novel mutation in the EXT1 gene identified in a Han Chinese kindred with hereditary multiple exostosis. (20578942)
2010
6
Dangerous costal exostosis: hemothorax mimicking empyema in a child. (20060125)
2010
7
Rapidly developed huge bursitis associated with scapular osteochondroma of the multiple exostosis: a case report. (18682954)
2009
8
The molecular and cellular basis of exostosis formation in hereditary multiple exostoses. (18452536)
2008
9
Pseudomallet finger caused by an exostosis of the proximal phalanx. (17482730)
2007
10
Dorsal foot pain due to compression of the deep peroneal nerve by exostosis of the metatarsocuneiform joint. (16166463)
2005
11
An unusual cause of hiccup: costal exostosis. Treatment by video-assisted thoracic surgery. (12829091)
2003
12
Periosteal hyperostosis (exostosis) in DBA/1 male mice. (12051556)
2002
13
Development of hip dysplasia in hereditary multiple exostosis. (11242251)
2001
14
Atlantoaxial cartilaginous exostosis causing spinal cord compression in a mature Bernese mountain dog. (11263703)
2001
15
Popliteal artery thrombosis secondary to exostosis of the tibia. (11769154)
2001
16
Subungual exostosis of the third toe. (11712058)
2001
17
A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis. (11461073)
2001
18
Radial tuberosity exostosis as a cause of reduced forearm rotation. (10888169)
2000
19
Clinical correlation to genetic variations of hereditary multiple exostosis. (10573350)
1999
20
Subungual exostosis: diagnosis and treatment in children. (9498509)
1998
21
Surgical treatment of wrist deformity in hereditary multiple exostosis. (9479778)
1997
22
Polyposis coli, craniofacial exostosis and astrocytoma: the concomitant occurrence of the Gardner's and Turcot syndromes. (8638216)
1996
23
Subungual exostosis of the finger. (7503533)
1995
24
Subungual exostosis. (7780402)
1995
25
Dyspareunia due to exostosis formation after pelvic fracture. (8251453)
1993
26
Subungual exostosis of the fingers. (1613224)
1992
27
The dorsal metatarsal cuneiform exostosis. (1770202)
1991
28
Incidence of brachydactyly and hand exostosis in hereditary multiple exostosis. (1995669)
1991
29
First metatarsal-cuneiform dorsal exostosis: its anatomical relation with the medial dorsal cutaneous nerve. (2584628)
1989
30
Case report 545: Osteochondroma (osteocartilagenous exostosis) cervical spine with spinal cord compression. (2675321)
1989
31
Brachial artery rupture due to an exostosis: brief report. (3403628)
1988
32
Digital exostosis causing enlargement of the fingertip. (3403734)
1988
33
Spontaneous hemarthrosis associated with an exostosis of the talus. (3572920)
1987
34
The first cuneometatarsal joint exostosis. Clinical and etiological considerations. (4020664)
1985
35
External ear canal exostosis and aquatic sports. (6728438)
1984
36
Hemothorax: unusual complication of hereditary multiple exostosis. (6970353)
1981
37
Osteoid osteoma presenting as an osteocartilaginous exostosis. (7263199)
1981
38
Familial exostosis. (315980)
1979
39
Otosclerosis in multiple exostosis. (311806)
1979
40
The development of the upper end of the femur in multiple hereditary exostosis. (311266)
1978
41
Subungual exostosis. (690386)
1978
42
Palatal exostosis in the molar region. (269249)
1977
43
Exostosis on a terminal phalanx. (5652816)
1968
44
TOTAL EXCISION OF SCAPULA FOR CHONDROSARCOMA COMPLICATING HEREDITARY MULTIPLE EXOSTOSIS. (14121156)
1964
45
Subungual exostosis. (13881680)
1962
46
Exostosis of the genial tubercles of the mandible. (13483958)
1957
47
Two cases of locking of the knee caused by an exostosis of the femur. (14818562)
1951
48
Aural Exostosis-Second removed from the same Meatus Nine Years after First. (19982456)
1922
49
Subsequent History of a Case of Exostosis of the Orbit Reported to the Society in 1897. (16692234)
1911
50
Exostosis of the Vertebral Border of the Scapula: Removal. (20758440)
1899

Variations for Exostosis

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Expression for genes affiliated with Exostosis

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Search GEO for disease gene expression data for Exostosis.

Pathways for genes affiliated with Exostosis

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Pathways related to Exostosis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9EXT1, EXT2
2
Show member pathways
9.6COL12A1, COL4A5, MMP12
3
Show member pathways
heparan sulfate biosynthesis (late stages)36
8.7EXT1, EXTL3, EXT2, EXTL2, EXTL1
4
Show member pathways
8.2EXTL1, EXTL2, EXT2, EXTL3, EXT1, GALNT5

Compounds for genes affiliated with Exostosis

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Exostosis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1arginine439.3EXT1, EXT2, COL4A5, BGLAP
2Uridine diphosphate-N-acetylglucosamine248.7EXT1, EXTL3, EXT2, EXTL2, EXTL1
3Uridine 5'-diphosphate248.1EXTL1, EXTL2, EXT2, EXTL3, EXT1, GALNT5
4heparan sulfate43 248.9POMGNT2, EXTL1, EXTL2, EXT2, EXTL3, EXT1

GO Terms for genes affiliated with Exostosis

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Cellular components related to Exostosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057899.2EXT1, EXTL3, EXT2, POMGNT2
2intrinsic component of endoplasmic reticulum membraneGO:00312279.1EXTL3, EXT2, EXTL2, EXTL1
3endoplasmic reticulumGO:00057838.7POMGNT2, EXTL2, EXT2, EXTL3, EXT1
4extracellular regionGO:00055768.6EXTL2, COL12A1, COL4A5, MMP12, BGLAP
5Golgi membraneGO:00001398.6FAM20B, EXT2, EXT1, GALNT5
6Golgi apparatusGO:00057948.5BGLAP, FAM20B, EXT2, EXT1
7integral component of membraneGO:00160216.9POMGNT2, FAM20B, EXTL1, EXTL2, EXT2, EXTL3

Biological processes related to Exostosis according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cellular polysaccharide biosynthetic processGO:003369210.1EXT1, EXT2
2heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:001501410.1EXT2, EXT1
3ossificationGO:00015039.9EXT1, EXT2
4protein glycosylationGO:00064869.6EXT1, EXT2, EXTL1
5glycosaminoglycan biosynthetic processGO:00060249.6GALNT5, EXT1, EXT2
6collagen catabolic processGO:00305749.6COL12A1, COL4A5, MMP12
7extracellular matrix disassemblyGO:00226179.5MMP12, COL4A5, COL12A1
8heparan sulfate proteoglycan biosynthetic processGO:00150129.3EXT1, EXTL3, EXT2, EXTL2
9extracellular matrix organizationGO:00301989.3COL12A1, COL4A5, MMP12
10skeletal system developmentGO:00015019.0BGLAP, COL12A1, EXTL1, EXT1, TRPS1

Molecular functions related to Exostosis according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:005050910.0EXT2, EXT1
2heparan sulfate N-acetylglucosaminyltransferase activityGO:00423289.9EXT2, EXT1
3glucuronosyltransferase activityGO:00150209.9EXT1, EXT2
4glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:00505089.7EXT1, EXT2, EXTL1
5transferase activity, transferring glycosyl groupsGO:00167579.6EXT1, EXT2
6acetylglucosaminyltransferase activityGO:00083759.6EXT1, EXT2, POMGNT2
7glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:00018889.5EXTL2, EXTL3

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet