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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Sources:
8Disease Ontology, 63Wikipedia, 21Genetics Home Reference, 22GTR, 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
multiple hereditary exostoses 21
exostoses multiple hereditary 44
osteochondromatosis syndrome 8
multiple exostosis syndromes 8
multiple osteochondromatosis 21
multiple osteochondromas 21
bessel-hagen disease 21
diaphyseal aclasis 21
familial exostoses 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
Can deformity of the knee and longitudinal growth of the leg be predicted in patients with hereditary multiple exostoses? A cross-sectional study. (23177660)
2014
2
Spontaneous pneumothoraces in hereditary multiple exostoses. (23471158)
2013
3
Skeletal growth patterns in hereditary multiple exostoses: a natural history. (22139142)
2012
4
Hereditary multiple exostoses causing cord compression. (23217490)
2012
5
Hereditary multiple exostoses with spine involvement in a 4-year-old boy. (20425832)
2010
6
Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. (19839753)
2009
7
Hereditary multiple exostoses and juvenile colon carcinoma: A case with a common genetic background? (19653241)
2009
8
Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin. (19309273)
2009
9
The molecular and cellular basis of exostosis formation in hereditary multiple exostoses. (18452536)
2008
10
Novel mutation in the EXT-1 gene in an Iranian family affected with hereditary multiple exostoses. (18810975)
2008
11
Hereditary multiple exostoses with pseudoaneurysm. (17225974)
2007
12
Abnormal scarring with keloid formation after osteochondroma excision in children with multiple hereditary exostoses. (17414021)
2007
13
Denaturant gradient gel electrophoresis in the genetic diagnosis of hereditary multiple exostoses]. (17478946)
2007
14
Evaluation of the anatomic burden of patients with hereditary multiple exostoses. (17589361)
2007
15
Manifestations of hereditary multiple exostoses. (15850368)
2005
16
Tc-99m MDP imaging in hereditary multiple exostoses. (12819417)
2003
17
Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan. (12490068)
2002
18
Hereditary multiple exostoses and heparan sulfate polymerization. (12417417)
2002
19
Successful removal of a giant recurrent chondrosarcoma of the thoracic wall in a patient with hereditary multiple exostoses. (11289764)
2001
20
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. (11170095)
2001
21
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. (10713884)
2000
22
Multiple peripheral nerve compressions related to malignantly transformed hereditary multiple exostoses. (10918272)
2000
23
Mutation analysis of hereditary multiple exostoses in the Chinese. (10480354)
1999
24
A thoracic complication of hereditary multiple exostoses in an adult. (10464882)
1999
25
A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. (10545594)
1999
26
Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses. (10429361)
1999
27
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. (9521425)
1998
28
Cervical spinal cord compression in hereditary multiple exostoses. Report of a case and a review of the literature. (9006779)
1997
29
An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses. (9050912)
1997
30
Function of the upper extremities in hereditary multiple exostoses. (8609135)
1996
31
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). (7550340)
1995
32
A gene for hereditary multiple exostoses maps to chromosome 19p. (8081357)
1994
33
An association between psoriasis and hereditary multiple exostoses. A clue for the mapping of a psoriasis susceptibility gene? (8204481)
1994
34
Popliteal artery pseudoaneurysm in a patient with hereditary multiple exostoses: MRI and MRA diagnosis. (8454759)
1993
35
DNA polymorphism analysis of hereditary multiple exostoses in horses. (2569854)
1989
36
Spontaneous hemothorax in a patient with hereditary multiple exostoses. (2818067)
1989
37
Acute cervical myelopathy from hereditary multiple exostoses: case report. (2788828)
1989
38
Lengthening the ulna in patients with hereditary multiple exostoses. (3488318)
1986
39
Subacromial impingement syndrome in hereditary multiple exostoses. (3488157)
1986
40
Picture of the month. Hereditary multiple exostoses (diaphyseal aclasis). (6608873)
1984
41
Hereditary multiple exostoses. Report of a family. (6333306)
1984
42
Hereditary multiple exostoses: report of a kindred. (6977644)
1981
43
Paraparesis in hereditary multiple exostoses: case report. (381970)
1979
44
Hereditary multiple exostoses: clinicopathologic features of a comparative study in horses and man. (314250)
1979
45
Hereditary multiple exostoses with myelopathy. (315766)
1979
46
Thoracic cord compression due to chondrosarcoma in two cousins with hereditary multiple exostoses. Report of two cases. (4536633)
1972
47
Thoracic cord compression from multiple hereditary exostoses associated with cerebellar astrocytoma. Case report. (5305211)
1969
48
Cervical cord compression due to exostosis in a patient with hereditary multiple exostoses. Case report. (5301711)
1968
49
Carpal and tarsal exostosis in hereditary multiple exostoses. (4965323)
1967
50
Hereditary multiple exostoses: a genetic analysis. (5905273)
1966

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
9.8EXT2, EXT1
29.8EXT2, EXT1
3
Hide members
8.5EXT2, EXTL2, EXTL3, EXTL1, EXT1
4
Hide members
7.9EXT1, EXTL1, EXTL3, EXTL2, EXT2, GALNT5

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