MCID: HRD001
MIFTS: 50

Hereditary Multiple Exostoses malady

Bone diseases, Genetic diseases categories

Summaries for Hereditary Multiple Exostoses

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Hereditary multiple exostoses is a condition in which people develop multiple benign (noncancerous) bone tumors called exostoses. The number of exostoses and the bones on which they are located vary greatly among affected individuals. The exostoses are not present at birth, but approximately 96 percent of affected people develop multiple exostoses by the time they are 12 years old. Exostoses typically form at the end of long bones and on flat bones such as the hip and shoulder blade. Once people with hereditary multiple exostoses reach adult height and their bones stop growing, the development of new exostoses also usually stops.

MalaCards: Hereditary Multiple Exostoses, also known as multiple congenital exostosis, is related to hereditary multiple osteochondromas and exostosis. An important gene associated with Hereditary Multiple Exostoses is EXTL3 (exostosin-like glycosyltransferase 3), and among its related pathways are Heparan sulfate/heparin (HS-GAG) metabolism and Disease. The compound heparan sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and colon.

Disease Ontology:8 An exostosis that has material basis in a mutation on the genes ext1, ext2 and ext3 which results in multiple bony spurs throughout a child's growth.

Wikipedia:63 Hereditary multiple exostoses (HME or MHE), also known as Diaphyseal aclasis, is a rare medical... more...

Description from OMIM:46 133701,133700

Aliases & Classifications for Hereditary Multiple Exostoses

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8Disease Ontology, 63Wikipedia, 22GTR, 21Genetics Home Reference, 44Novoseek, 56SNOMED-CT, 46OMIM, 39NCIt, 34MeSH, 60UMLS
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Classifications:

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


Aliases & Descriptions:

hereditary multiple exostoses 8 63 21
multiple congenital exostosis 8 22 21
hereditary multiple exostoses 2 8 22
multiple cartilaginous exostoses 21
hereditary multiple exostoses 1 8
exostoses, multiple hereditary 21
exostoses multiple hereditary 44
multiple hereditary exostoses 21
multiple exostosis syndromes 8
multiple osteochondromatosis 21
osteochondromatosis syndrome 8
multiple osteochondromas 21
bessel-hagen disease 21
familial exostoses 21
diaphyseal aclasis 21


External Ids:

Disease Ontology8 DOID:206
NCIt39 C5183
MeSH34 D005097

Related Diseases for Hereditary Multiple Exostoses

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hereditary Multiple Exostoses:



Diseases related to hereditary multiple exostoses

Clinical Features for Hereditary Multiple Exostoses

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46OMIM
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Clinical features from OMIM:

133701,133700

Drugs & Therapeutics for Hereditary Multiple Exostoses

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hereditary Multiple Exostoses

Drug clinical trials:

Search ClinicalTrials for Hereditary Multiple Exostoses

Search NIH Clinical Center for Hereditary Multiple Exostoses

Search CenterWatch for Hereditary Multiple Exostoses

Genetic Tests for Hereditary Multiple Exostoses

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22GTR
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Genetic tests related to Hereditary Multiple Exostoses:

id Genetic test Affiliating Genes
1 Multiple Congenital Exostosis22
2 Hereditary Multiple Exostoses, Type Ii22

Anatomical Context for Hereditary Multiple Exostoses

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32MalaCards
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MalaCards organs/tissues related to Hereditary Multiple Exostoses:

32
Bone, Spinal cord, Colon, Breast, Testes, Myeloid

Animal Models for Hereditary Multiple Exostoses or affiliated genes

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Publications for Hereditary Multiple Exostoses

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50PubMed
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Articles related to Hereditary Multiple Exostoses:

(show top 50)    (show all 180)
idTitleAuthorsYear
1
Glycosaminoglycans in the blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application. (23514715)
2013
2
Spinal exostosis in a boy with multiple hereditary exostoses. (24324905)
2013
3
Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses]. (23450490)
2013
4
Bilateral ischiofemoral impingement in a patient with hereditary multiple exostoses. (22865159)
2012
5
Giant osteochondroma of axis in a child with multiple hereditary exostoses: case report and review of literature. (21956118)
2012
6
Cervical myelopathy in hereditary multiple exostoses. (21497536)
2011
7
Shoulder exostoses in hereditary multiple exostoses: probability of surgery and malignant change. (21106401)
2011
8
Hereditary multiple exostoses: case report. (20499760)
2010
9
The EXT2 gene mutation in a family with hereditary multiple exostoses]. (20140877)
2010
10
Hereditary multiple exostoses with spine involvement in a 4-year-old boy. (20425833)
2010
11
A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree. (20025490)
2010
12
The molecular and cellular basis of exostosis formation in hereditary multiple exostoses. (19335558)
2009
13
Hereditary multiple exostoses of the hip. (19721143)
2009
14
A new EXT2 mutation in a Chinese family with hereditary multiple exostoses]. (19504431)
2009
15
Hereditary multiple exostoses and enchondromatosis. (18328980)
2008
16
Hereditary multiple exostoses and schizophrenia. (20300296)
2008
17
EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses]. (18067075)
2007
18
Sudden onset of saphenous neuropathy associated with hereditary multiple exostoses. (16897208)
2006
19
Nail deformity associated with hereditary multiple exostoses. (16112375)
2005
20
Hereditary multiple exostoses of the ribs: an unusual cause of hemothorax and pericardial effusion. (16034772)
2005
21
A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses]. (15079787)
2004
22
The short-lived exostosis induced surgically versus the lasting genetic hereditary multiple exostoses. (12645631)
2003
23
Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1. (12032595)
2002
24
From gene to disease; hereditary multiple exostoses]. (11845565)
2002
25
Thoracic vertebral body exostosis as a cause of myelopathy in a patient with hereditary multiple exostoses. (11927824)
2002
26
Hereditary multiple exostoses: one center's experience and review of etiology. (12151882)
2002
27
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. (11391482)
2001
28
Genotype-phenotype correlation in hereditary multiple exostoses. (11432960)
2001
29
Hereditary multiple exostoses and acute myeloid leukemia: an unusual association. (11127404)
2000
30
Chondrosarcoma in a family with multiple hereditary exostoses. (10755438)
2000
31
Cavernous sinus haemangioma with hereditary multiple exostoses. (10514594)
1999
32
A distamycin A-inducible fragile site, FRA8E, located in the region of the hereditary multiple exostoses gene, is not involved in HPV16 DNA integration and amplification. (9460496)
1998
33
A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online. (10671060)
1998
34
Rare presentation of hereditary multiple exostoses. A case report. (9542355)
1998
35
Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. (9272707)
1997
36
Positional cloning of a gene involved in hereditary multiple exostoses. (8894688)
1996
37
Natural history study of hereditary multiple exostoses. (7702095)
1995
38
Hereditary multiple exostoses. (8071561)
1994
39
Intracanalicular osteochondroma producing spinal cord compression in hereditary multiple exostoses. (7919647)
1994
40
Pseudoaneurysm of popliteal artery secondary to hereditary multiple exostoses: Case report. (17586933)
1994
41
Spastic disorder in patients with hereditary multiple exostoses, but without spinal cord compression: a new syndrome? (1640431)
1992
42
Radiographic findings in hereditary multiple exostoses and a new theory of the pathogenesis of exostoses. (2251004)
1990
43
Cervical cord compression and femoral neuropathy in hereditary multiple exostoses. (2351978)
1990
44
Hereditary multiple exostoses: report of a case presenting with proximal nail fold and nail swelling. (2298952)
1990
45
Acute spinal cord compression in hereditary multiple exostoses: case report. (2601991)
1989
46
Osteochondroma with thoracic cord compression in hereditary multiple exostoses: a case report. (312508)
1979
47
Bone scintigraphy in hereditary multiple exostoses. (414588)
1978
48
Hereditary multiple exostoses. (14349947)
1954
49
Hereditary multiple exostoses. (14949405)
1952
50
Hereditary multiple exostoses. (18126921)
1949

Genetic Variations for Hereditary Multiple Exostoses

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Expression for genes affiliated with Hereditary Multiple Exostoses

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Multiple Exostoses

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Pathways for genes affiliated with Hereditary Multiple Exostoses

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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Hereditary Multiple Exostoses according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8EXT1, EXT2
29.8EXT2, EXT1
3
Hide members
8.5EXT1, EXT2, EXTL2, EXTL3, EXTL1
4
Hide members
7.9EXTL3, EXTL2, EXT2, EXT1, GALNT5, EXTL1

Compounds for genes affiliated with Hereditary Multiple Exostoses

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44Novoseek, 24HMDB
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Compounds related to Hereditary Multiple Exostoses according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparan sulfate44 249.0POMGNT2, EXT2, EXTL2, EXTL3, EXTL1, EXT1

GO Terms for genes affiliated with Hereditary Multiple Exostoses

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16Gene Ontology
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Cellular components related to Hereditary Multiple Exostoses according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intrinsic to endoplasmic reticulum membraneGO:0312278.9EXT2, EXTL2, EXTL3, EXTL1
2endoplasmic reticulum membraneGO:0057898.7EXT1, EXTL3, EXT2, POMGNT2
3endoplasmic reticulumGO:0057838.4EXT1, EXTL3, EXTL2, EXT2, POMGNT2
4integral to membraneGO:0160217.4POMGNT2, GALNT5, EXT2, EXTL2, EXTL3, EXTL1

Biological processes related to Hereditary Multiple Exostoses according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular polysaccharide biosynthetic processGO:0336929.8EXT2, EXT1
2heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:0150149.5EXT2, EXT1
3protein glycosylationGO:0064869.4EXT2, EXTL1, EXT1
4glycosaminoglycan biosynthetic processGO:0060249.1EXT1, EXT2, GALNT5
5heparan sulfate proteoglycan biosynthetic processGO:0150129.1EXT2, EXTL2, EXTL3, EXT1

Molecular functions related to Hereditary Multiple Exostoses according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activityGO:0505099.9EXT1, EXT2
2heparan sulfate N-acetylglucosaminyltransferase activityGO:0423289.8EXT1, EXT2
3glucuronosyltransferase activityGO:0150209.8EXT2, EXT1
4glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:0018889.6EXTL3, EXTL2
5transferase activity, transferring glycosyl groupsGO:0167579.5EXT2, EXT1
6glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:0505089.5EXT2, EXTL1, EXT1
7acetylglucosaminyltransferase activityGO:0083759.4POMGNT2, EXT2, EXT1

Products for genes affiliated with Hereditary Multiple Exostoses

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Sources for Hereditary Multiple Exostoses

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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