MCID: EXS001
MIFTS: 51

Exostosis malady

Bone diseases category
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Summaries for Exostosis

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8Disease Ontology, 65Wikipedia, 33MalaCards
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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: Exostosis, also known as cartilaginous exostosis, 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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8Disease Ontology, 10DISEASES, 62UMLS, 27ICD9CM, 58SNOMED-CT, 35MeSH, 40NCIt, 25ICD10
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Classifications:

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


Aliases & Descriptions:

exostosis 8 10
cartilaginous exostosis 62
swimmer's exostosis 8
exostosis of orbit 62
orbital exostosis 8
external exotoses 62
bony outgrowth 8
osteophyte 8
bone spur 8
exostoses 62


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Disease Ontology8 DOID:203
ICD9CM27 726.91
MeSH35 D005096
NCIt40 C3029
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 71)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondroma30.9EXT1, EXT2
2chondrosarcoma30.6EXT1, POMGNT2, EXT2
3hereditary multiple exostoses30.6EXTL3, EXTL1, EXTL2, POMGNT2, TRPS1, EXT1
4trichorhinophalangeal syndrome type ii30.2EXT1, TRPS1
5hereditary multiple osteochondromas30.0EXT2, EXT1
6osteoarthritis29.8BGLAP, MMP12, POMGNT2
7cervicitis10.5
8aneurysm10.4
9diffuse idiopathic skeletal hyperostosis10.4
10spondylosis10.3
11gingivitis10.3
12dupuytren subungual exostosis10.3
13hyperostosis10.2
14intracranial hypotension10.2
15arthropathy10.1
16plantar fasciitis10.1
17hypophosphatasia10.1
18fasciitis10.1
19brachydactyly10.1
20osteosarcoma10.1
21periostitis10.1
22pneumothorax10.1
23exostoses, multiple, type 110.1
24ollier disease10.0EXT1, EXT2
25autosomal dominant disease10.0EXT2, EXT1
26bone carcinoma10.0BGLAP, EXT1, EXT2
27secondary syphilis10.0BGLAP, EXT2, EXT1
28ankylosing spondylitis10.0
29acromegaly10.0
30thoracic outlet syndrome10.0
31carpal tunnel syndrome10.0
32bicipital tenosynovitis10.0
33aspiration pneumonia10.0
34pneumonia10.0
35spondylitis10.0
36idiopathic adolescent scoliosis10.0
37back pain10.0
38venous thoracic outlet syndrome10.0
39primary hyperoxaluria10.0COL4A5, BGLAP
40pseudoarthrosis9.9
41heel spur9.9
42osteoblastoma9.9
43juvenile rheumatoid arthritis9.9
44brown-sequard syndrome9.9
45hemarthrosis9.9
46tarsal tunnel syndrome9.9
47quadriplegia9.9
48fibrous histiocytoma9.9
49otosclerosis9.9
50down syndrome9.9

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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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Exostosis:

33
Bone, Spinal cord, Lung, Bone marrow, Brain, Breast, Skin, Testes

Animal Models for Exostosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Exostosis:

37
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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52PubMed
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Articles related to Exostosis:

(show top 50)    (show all 392)
idTitleAuthorsYear
1
Thoracoscopic findings of an asymptomatic solitary costal exostosis: is surgical intervention required? (22914805)
2012
2
Turret exostosis of the talus. (20608619)
2010
3
A novel mutation in the EXT1 gene identified in a Han Chinese kindred with hereditary multiple exostosis. (20578942)
2010
4
Dangerous costal exostosis: hemothorax mimicking empyema in a child. (20060125)
2010
5
Rapidly developed huge bursitis associated with scapular osteochondroma of the multiple exostosis: a case report. (18682954)
2009
6
The molecular and cellular basis of exostosis formation in hereditary multiple exostoses. (19335558)
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
Radial tuberosity exostosis as a cause of reduced forearm rotation. (10888169)
2000
18
Clinical correlation to genetic variations of hereditary multiple exostosis. (10573350)
1999
19
Subungual exostosis: diagnosis and treatment in children. (9498509)
1998
20
Surgical treatment of wrist deformity in hereditary multiple exostosis. (9479778)
1997
21
Polyposis coli, craniofacial exostosis and astrocytoma: the concomitant occurrence of the Gardner's and Turcot syndromes. (8638216)
1996
22
Subungual exostosis of the finger. (7503533)
1995
23
Subungual exostosis. (7780402)
1995
24
Hemothorax in a child as a result of costal exostosis. (8115223)
1994
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Exostosis

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Pathways for genes affiliated with Exostosis

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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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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)38
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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45Novoseek, 24HMDB
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Compounds related to Exostosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arginine459.3EXT1, EXT2, COL4A5, BGLAP
2Uridine diphosphate-N-acetylglucosamine248.7EXT1, EXTL3, EXT2, EXTL2, EXTL1
3Uridine 5'-diphosphate248.1EXTL1, EXTL2, EXT2, EXTL3, EXT1, GALNT5
4heparan sulfate45 248.9POMGNT2, EXTL1, EXTL2, EXT2, EXTL3, EXT1

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
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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet