MCID: EXS001
MIFTS: 49

Exostosis malady

Summaries for Exostosis

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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Wikipedia:64 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 osteochondroma and hereditary multiple exostoses. 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. 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

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 57SNOMED-CT, 27ICD9CM, 40NCIt, 35MeSH, 25ICD10
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Classifications:



Aliases & Descriptions:

exostosis 8 10
cartilaginous exostosis 61
swimmer's exostosis 8
exostosis of orbit 61
orbital exostosis 8
external exotoses 61
bony outgrowth 8
osteophyte 8
bone spur 8
exostoses 61


External Ids:

Disease Ontology8 DOID:203
ICD9CM27 726.91
NCIt40 C3029
MeSH35 D005096
ICD1025 M25.7

Related Diseases for Exostosis

Sources:
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 119)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondroma30.8BMP2, EXT2, EXT1
2hereditary multiple exostoses30.7EXT1, EXTL1, EXTL3, EXTL2, EXT2, TRPS1
3short stature30.1BGLAP
4arthropathy30.1ACAN, MMP13, BMP2
5hereditary multiple osteochondromas30.1EXT2, EXT1
6brachydactyly30.1TRPS1, IHH
7trichorhinophalangeal syndrome type ii30.1EXT1, TRPS1
8osteoporosis29.8BGLAP, BMP2, MMP13
9osteoarthritis29.8BGLAP, BMP2, MMP13, MMP12, ACAN
10ollier disease29.8EXT2, EXT1
11dupuytren subungual exostosis10.4
12diffuse idiopathic skeletal hyperostosis10.3
13spondylosis10.3
14mental retardation10.3
15spasticity multiple exostoses10.3
16exostoses anetodermia brachydactyly type e10.2
17exostoses, multiple, type 210.2
18intracranial hypotension10.2
19potocki-shaffer syndrome10.2
20exostoses, multiple, type 310.2
21craniosynostosis exostoses nevus epibulbar dermoid10.1
22exostoses, multiple, type 110.1
23plantar fasciitis10.1
24hypophosphatasia10.1
25proteus syndrome10.0
26n syndrome10.0
27short syndrome10.0
28brachydactyly type b10.0
29brachydactyly type e10.0
30l�ri-weill dyschondrosteosis10.0
31cleidocranial dysplasia10.0BGLAP
32colorectal cancer10.0MMP13, MMP12
33craniosynostosis10.0BMP2
34trichorhinophalangeal syndrome type i10.0TRPS1
35osteochondritis dissecans10.0ACAN
36degenerative disc disease10.0ACAN, BMP2
37progressive osseous heteroplasia10.0BMP2, BGLAP
38secondary syphilis10.0BGLAP, EXT1, EXT2, BMP2
39bone carcinoma10.0BGLAP, EXT1, EXT2, BMP2, MMP13
40chondrosarcoma10.0EXT1, EXT2, BMP2, IHH, MMP13, ACAN
41osteosarcoma10.0MMP13, BMP2, EXT1, BGLAP
42breast cancer10.0EXT1, IRS4, BMP2, MMP13, MMP12
43ankylosing spondylitis10.0
44carpal tunnel syndrome10.0
45acromegaly10.0
46bicipital tenosynovitis10.0
47thoracic outlet syndrome10.0
48aspiration pneumonia10.0
49spondylitis10.0
50idiopathic adolescent scoliosis10.0

Graphical network of the top 20 diseases related to Exostosis:



Diseases related to exostosis

Clinical Features for Exostosis

Drugs & Therapeutics for Exostosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Exostosis

Drug clinical trials:

Search ClinicalTrials for Exostosis

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Search CenterWatch for Exostosis

Genetic Tests for Exostosis

Anatomical Context for Exostosis

Animal Models for Exostosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Exostosis

Sources:
51PubMed
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Articles related to Exostosis:

(show top 50)    (show all 398)
idTitleAuthorsYear
1
A novel management strategy for subungual exostosis. (23997083)
2013
2
Small sharp exostosis tip in solitary osteochondroma causing intermittent knee pain due to pseudoaneurysm. (23574747)
2013
3
CORR Insights(Ar): Subungual Exostosis of the Toes: A Systematic Review. (24338095)
2013
4
Femoral neck exostosis, a manifestation of cam/pincer combined femoroacetabular impingement. (20117636)
2010
5
Unusual "traction" exostosis of the femoral diaphysis with sciatic nerve compression. (20130474)
2010
6
The molecular and cellular basis of exostosis formation in hereditary multiple exostoses. (19335558)
2009
7
Thoracoscopic resection for costal exostosis presenting with hemothorax in a child. (19199237)
2009
8
An Osteochondroma Limiting Flexion of the Proximal Interphalangeal Joint in Hereditary Multiple Exostosis: a Case Report. (19821079)
2009
9
Turret exostosis of the hallux. (17331874)
2007
10
Arthroscopic treatment for anterior impingement exostosis of the ankle: application of three-dimensional computed tomography. (14992703)
2004
11
An unusual cause of hiccup: costal exostosis. Treatment by video-assisted thoracic surgery. (12829091)
2003
12
Deviation of a finger at the proximal interphalangeal joint caused by juxta-articular exostosis. (14582762)
2003
13
Unusual presentation of rib exostosis. (12607679)
2003
14
Periosteal hyperostosis (exostosis) in DBA/1 male mice. (12051556)
2002
15
Exostosis of the external auditory canal: a technical note. (11981378)
2002
16
Development of hip dysplasia in hereditary multiple exostosis. (11242251)
2001
17
Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. (11169766)
2001
18
Exostosis following a subepithelial connective tissue graft. (12666976)
2001
19
Radial tuberosity exostosis as a cause of reduced forearm rotation. (10888169)
2000
20
Treatment of cervical cord compression, caused by hereditary multiple exostosis, with laminoplasty: a case report. (10806509)
2000
21
Solitary exostosis of the thoracic spine. Early diagnosis and treatment. (10543007)
1999
22
Subungual exostosis. (10063218)
1999
23
Chondrosarcoma secondary to hereditary multiple exostosis treated by extended internal hemipelvectomy. (9532846)
1997
24
Subungual exostosis: a simple technique of excision. (7767453)
1995
25
Hemothorax in a child as a result of costal exostosis. (8115223)
1994
26
A further report of bony exostosis occurring as a sequela to free gingival grafts. (9055684)
1994
27
A new management approach to decompression, posterior stabilization, and fusion for cervical laminar exostosis with cord compression in a case of diaphyseal aclasis. Case report and review of the literature. (8211373)
1993
28
Calcaneal osteotomy for retrocalcaneal exostosis. (1893341)
1991
29
Multiple exostosis, brain ventricular enlargement and schizophrenia. (2654986)
1989
30
Cartilaginous exostosis arising from the ventral surface of the scapula. A case report. (3263242)
1988
31
Talar exostosis as a cause of tarsal tunnel syndrome. (3572765)
1987
32
Subungual osteocartilaginous exostosis. (3998266)
1985
33
Malignant degeneration of hereditary multiple exostosis: a case history. (6335167)
1984
34
'Turret exostosis' of the coronoid process. (6582930)
1984
35
Peroneal paralysis due to exostosis of the fibula. Report of 2 cases. (6654662)
1983
36
Hemothorax: unusual complication of hereditary multiple exostosis. (6970353)
1981
37
Inflammatory exostosis and abscessation associated with Fusobacterium nucleatum in a rabbit. (7265908)
1981
38
Repair of bony defect using an intraoral exostosis as the donor site. A case report. (385826)
1979
39
Aneurysm of popliteal artery caused by cartilaginous exostosis. A case report. (1199722)
1975
40
Removal of subungual exostosis and subsequent removal of needle. (5506258)
1970
41
Dysphagia due to cervical exostosis. (5436967)
1970
42
Exostosis on a terminal phalanx. (5652816)
1968
43
Inferior calcaneal exostosis. (5636490)
1968
44
Subungual exostosis. (5947198)
1966
45
HEREDITARY MULTIPLE EXOSTOSIS. (14207550)
1964
46
Hereditary multiple exostosis in the horse. (14475969)
1962
47
Winged scapula caused by a solitary exostosis. (13230522)
1955
48
Ivory Exostosis of the Mandible Simulating a Tooth. (19985116)
1926
49
STUDIES ON CALCIUM AND MAGNESIUM METABOLISM IN DISEASE : II. CALCIUM AND MAGNESIUM METABOLISM IN MULTIPLE CARTILAGINOUS EXOSTOSIS. (19868431)
1920
50
Electrolysis of Exostosis of the Ear. (20747308)
1873

Genetic Variations for Exostosis

Expression for genes affiliated with Exostosis

Sources:
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

Sources:
38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 30KEGG, 52QIAGEN
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Compounds for genes affiliated with Exostosis

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 50PharmGKB, 24HMDB, 29IUPHAR
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Compounds related to Exostosis according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1procollagen4510.6ACAN
2Uridine-Diphosphate-N-Acetylgalactosamine1110.2ABO, EXTL2
3Uridine-5'-Diphosphate1110.1EXTL2, ABO
4uk 3833676010.1MMP13, MMP12
5alizarin red s4510.0BMP2, BGLAP
6gi 254023x6010.0MMP13, MMP12
7tio24510.0BMP2, BGLAP
8alizarin459.9BGLAP, BMP2
9glycosaminoglycan459.9EXT1, BMP2, MMP13, ACAN
10clodronate45 50 1111.8MMP13, BGLAP
11tgf beta1459.8BMP2, MMP13, ACAN
12alendronate45 50 1111.8BGLAP, BMP2, MMP13
13polyglycolic acid459.8BGLAP, BMP2, ACAN
14agarose459.8ACAN, ABO, MMP13
15gm 6001609.8MMP13, MMP12
16chitosan459.8ACAN, BMP2, BGLAP
17hydroxyapatite459.7MMP13, BMP2, BGLAP
18tetracycline45 1110.6BGLAP, BMP2, MMP13
19alginate459.6BGLAP, BMP2, MMP13, ACAN
20ascorbic acid45 2410.5ACAN, MMP13, BMP2, BGLAP
21sb 20358045 6010.4ACAN, MMP13, BMP2, BGLAP
22dexamethasone45 50 29 1112.2BGLAP, BMP2, MMP13, MMP12, ACAN
23arginine459.1COL4A5, BGLAP, EXT1, EXT2, BMP2, ABO
24heparan sulfate45 2410.1ACAN, BMP2, EXT2, EXTL2, EXTL3, EXTL1

GO Terms for genes affiliated with Exostosis

Sources:
16Gene Ontology
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Cellular components related to Exostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intrinsic to endoplasmic reticulum membraneGO:0312279.2EXTL1, EXTL3, EXTL2, EXT2
2extracellular regionGO:0055767.8COL4A5, COL12A1, BGLAP, EXTL2, BMP2, IHH

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:01501410.2EXT1, EXT2
3embryonic skeletal joint developmentGO:07249810.1IHH, EXT1
4collagen catabolic processGO:0305749.9COL4A5, COL12A1, MMP12, MMP13
5glycosaminoglycan metabolic processGO:0302039.8EXT1, ACAN, EXT2
6heparan sulfate proteoglycan biosynthetic processGO:0150129.8EXTL2, EXT2, EXT1, EXTL3
7extracellular matrix disassemblyGO:0226179.8MMP12, MMP13, COL12A1, COL4A5
8protein glycosylationGO:0064869.8EXT1, EXTL1, EXT2, ABO
9proteoglycan metabolic processGO:0060299.7IHH, BMP2
10glycosaminoglycan biosynthetic processGO:0060249.7EXT2, GALNT5, EXT1
11bone mineralizationGO:0302829.6MMP13, BGLAP, BMP2
12osteoblast differentiationGO:0016499.4BGLAP, BMP2, IHH
13extracellular matrix organizationGO:0301989.4COL4A5, COL12A1, BMP2, MMP13, ACAN, MMP12
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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet