MCID: EXS001
MIFTS: 52

Exostosis malady

Bone diseases category
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Summaries for Exostosis

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Wikipedia:65 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 bony outgrowth, 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:8 A hyperostosis that involves formation of new bone on the surface of preexisting bone.

Aliases & Classifications for Exostosis

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Exostosis, Aliases & Descriptions:

Name: Exostosis 8 10
Bony Outgrowth 8 62
Cartilaginous Exostosis 62
Swimmer's Exostosis 8
Exostosis of Orbit 62
 
Orbital Exostosis 8
External Exotoses 62
Osteophyte 8
Bone Spur 8
Exostoses 62


Classifications:

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


External Ids:

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

Related Diseases for Exostosis

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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:

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Genetic Tests for Exostosis

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Anatomical Context for Exostosis

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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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MGI Mouse Phenotypes related to Exostosis:

36
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 407)
idTitleAuthorsYear
1
Subungual exostosis. (24787537)
2014
2
Thoracoscopic findings of an asymptomatic solitary costal exostosis: is surgical intervention required? (22914805)
2012
3
Turret exostosis of the talus. (20608619)
2010
4
A novel mutation in the EXT1 gene identified in a Han Chinese kindred with hereditary multiple exostosis. (20578942)
2010
5
Dangerous costal exostosis: hemothorax mimicking empyema in a child. (20060125)
2010
6
Rapidly developed huge bursitis associated with scapular osteochondroma of the multiple exostosis: a case report. (18682954)
2009
7
The molecular and cellular basis of exostosis formation in hereditary multiple exostoses. (18452536)
2008
8
Pseudomallet finger caused by an exostosis of the proximal phalanx. (17482730)
2007
9
Dorsal foot pain due to compression of the deep peroneal nerve by exostosis of the metatarsocuneiform joint. (16166463)
2005
10
An unusual cause of hiccup: costal exostosis. Treatment by video-assisted thoracic surgery. (12829091)
2003
11
The short-lived exostosis induced surgically versus the lasting genetic hereditary multiple exostoses. (12645631)
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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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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Pathways related to Exostosis according to GeneCards/GeneDecks:

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)37
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:
44Novoseek, 24HMDB
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Compounds related to Exostosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine449.3EXT1, EXT2, COL4A5, BGLAP
2Uridine diphosphate-N-acetylglucosamine248.7EXT1, EXTL3, EXT2, EXTL2, EXTL1
3Uridine 5'-diphosphate248.1EXTL1, EXTL2, EXT2, EXTL3, EXT1, GALNT5
4heparan sulfate44 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057899.2EXT1, EXTL3, EXT2, POMGNT2
2intrinsic component of endoplasmic reticulum membraneGO:0312279.1EXTL3, EXT2, EXTL2, EXTL1
3endoplasmic reticulumGO:0057838.7POMGNT2, EXTL2, EXT2, EXTL3, EXT1
4extracellular regionGO:0055768.6EXTL2, COL12A1, COL4A5, MMP12, BGLAP
5Golgi membraneGO:0001398.6FAM20B, EXT2, EXT1, GALNT5
6Golgi apparatusGO:0057948.5BGLAP, FAM20B, EXT2, EXT1
7integral component of membraneGO:0160216.9POMGNT2, FAM20B, EXTL1, EXTL2, EXT2, EXTL3

Biological processes related to Exostosis according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cellular polysaccharide biosynthetic processGO:03369210.1EXT1, EXT2
2heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:01501410.1EXT2, EXT1
3ossificationGO:0015039.9EXT1, EXT2
4protein glycosylationGO:0064869.6EXT1, EXT2, EXTL1
5glycosaminoglycan biosynthetic processGO:0060249.6GALNT5, EXT1, EXT2
6collagen catabolic processGO:0305749.6COL12A1, COL4A5, MMP12
7extracellular matrix disassemblyGO:0226179.5MMP12, COL4A5, COL12A1
8heparan sulfate proteoglycan biosynthetic processGO:0150129.3EXT1, EXTL3, EXT2, EXTL2
9extracellular matrix organizationGO:0301989.3COL12A1, COL4A5, MMP12
10skeletal system developmentGO:0015019.0BGLAP, COL12A1, EXTL1, EXT1, TRPS1

Molecular functions related to Exostosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:05050910.0EXT2, EXT1
2heparan sulfate N-acetylglucosaminyltransferase activityGO:0423289.9EXT2, EXT1
3glucuronosyltransferase activityGO:0150209.9EXT1, EXT2
4glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:0505089.7EXT1, EXT2, EXTL1
5transferase activity, transferring glycosyl groupsGO:0167579.6EXT1, EXT2
6acetylglucosaminyltransferase activityGO:0083759.6EXT1, EXT2, POMGNT2
7glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:0018889.5EXTL2, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet