MCID: HRD001
MIFTS: 47

Hereditary Multiple Exostoses malady

Bone, Genetic categories

Summaries for Hereditary Multiple Exostoses

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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 osteochondroma and hereditary multiple osteochondromas. 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 spinal cord, colon and breast.

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

Description from OMIM:47 133701,133700

Aliases & Classifications for Hereditary Multiple Exostoses

Sources:
8Disease Ontology, 64Wikipedia, 21Genetics Home Reference, 22GTR, 45Novoseek, 57SNOMED-CT, 47OMIM, 40NCIt, 35MeSH, 61UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

hereditary multiple exostoses 8 64 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 45
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
NCIt40 C5183
MeSH35 D005097

Related Diseases for Hereditary Multiple Exostoses

Sources:
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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

133701,133700

Drugs & Therapeutics for Hereditary Multiple Exostoses

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Hereditary Multiple Exostoses:

33
Spinal cord, Colon, Breast, Myeloid

Animal Models for Hereditary Multiple Exostoses or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hereditary Multiple Exostoses

Sources:
51PubMed
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Articles related to Hereditary Multiple Exostoses:

(show top 50)    (show all 180)
idTitleAuthorsYear
1
A mountain among molehills: removing an impinging large femoral neck osteochondroma in a man with hereditary multiple exostoses. (24408944)
2014
2
Hereditary multiple exostoses: anatomical distribution and burden of exostoses is dependent upon genotype and gender. (24413927)
2014
3
Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses]. (23450490)
2013
4
Skeletal growth patterns in hereditary multiple exostoses: a natural history. (22139142)
2012
5
Bilateral ischiofemoral impingement in a patient with hereditary multiple exostoses. (22865159)
2012
6
Hereditary multiple exostoses in the hands and fingers: early presentation and early surgical treatment in family members. Case reports. (22654707)
2011
7
Hereditary multiple exostoses with spine involvement in a 4-year-old boy. (20425832)
2010
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
Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene. (18330718)
2009
12
EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses]. (18067075)
2007
13
Spinal cord compression in a patient with multiple hereditary exostoses caused by breast adenocarcinoma metastatic to osteochondromas of the spine: case report. (17108823)
2006
14
Nail deformity associated with hereditary multiple exostoses. (16112375)
2005
15
Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes. (14654969)
2004
16
A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses]. (15079787)
2004
17
The short-lived exostosis induced surgically versus the lasting genetic hereditary multiple exostoses. (12645631)
2003
18
Intermediate grade osteosarcoma and chondrosarcoma arising in an osteochondroma. A case report of a patient with hereditary multiple exostoses. (11896078)
2002
19
From gene to disease; hereditary multiple exostoses]. (11845565)
2002
20
Cervical osteochondroma as a cause of spinal cord compression in a patient with hereditary multiple exostoses: Computed tomography and magnetic resonance imaging findings. (12196244)
2002
21
Hereditary multiple exostoses and heparan sulfate polymerization. (12417417)
2002
22
Hereditary multiple exostoses: one center's experience and review of etiology. (12151882)
2002
23
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. (11391482)
2001
24
Successful removal of a giant recurrent chondrosarcoma of the thoracic wall in a patient with hereditary multiple exostoses. (11289764)
2001
25
A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses. (11180615)
2001
26
Cavernous sinus haemangioma with hereditary multiple exostoses. (10514594)
1999
27
A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. (10545594)
1999
28
Identification of mutation in a candidate gene for hereditary multiple exostoses type II. (11593646)
1999
29
Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas. (9576285)
1998
30
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
31
Cervical spinal cord compression in hereditary multiple exostoses. Report of a case and a review of the literature. (9006779)
1997
32
Function of the upper extremities in hereditary multiple exostoses. (8609135)
1996
33
Myelopathy due to hereditary multiple exostoses: CT and MR studies. (8836597)
1996
34
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). (7550340)
1995
35
A gene for hereditary multiple exostoses maps to chromosome 19p. (8081357)
1994
36
Hereditary multiple exostoses. (8071561)
1994
37
The natural history of hereditary multiple exostoses. (8027127)
1994
38
Cervical cord compression in hereditary multiple exostoses. (8366369)
1993
39
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24). (1433231)
1992
40
Hereditary multiple exostoses and cervical cord compression: CT and MR studies. (2784452)
1989
41
Spontaneous hemothorax in a patient with hereditary multiple exostoses. (2818067)
1989
42
Acute cervical myelopathy from hereditary multiple exostoses: case report. (2788828)
1989
43
Picture of the month. Hereditary multiple exostoses (diaphyseal aclasis). (6608873)
1984
44
Hereditary multiple exostoses. A rare cause of arterial insufficiency. (6601922)
1983
45
Hereditary multiple exostoses with spinal cord compression. (6601690)
1983
46
Thoracic cord compression from multiple hereditary exostoses associated with cerebellar astrocytoma. Case report. (5305211)
1969
47
Carpal and tarsal exostosis in hereditary multiple exostoses. (4965323)
1967
48
Hereditary multiple exostoses: a genetic analysis. (5905273)
1966
49
Hereditary multiple exostoses, pseudo-pseudohypoparathyroidism and other genetic defects of bone, calcium and phosphorus metabolism. (13777152)
1961
50
Hereditary multiple exostoses with compression of the spinal cord. (13494523)
1957

Genetic Variations for Hereditary Multiple Exostoses

Expression for genes affiliated with Hereditary Multiple Exostoses

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

Search GEO for disease gene expression data for Hereditary Multiple Exostoses.

Pathways for genes affiliated with Hereditary Multiple Exostoses

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
See all sources

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

Sources:
45Novoseek, 24HMDB
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Compounds related to Hereditary Multiple Exostoses according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparan sulfate45 249.0POMGNT2, EXT2, EXTL2, EXTL3, EXTL1, EXT1

GO Terms for genes affiliated with Hereditary Multiple Exostoses

Sources:
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:0312278.9EXTL1, EXTL3, EXTL2, EXT2
2endoplasmic reticulum membraneGO:0057898.7POMGNT2, EXT2, EXTL3, EXT1
3endoplasmic reticulumGO:0057838.4POMGNT2, EXT2, EXT1, EXTL2, EXTL3
4integral to membraneGO:0160217.4EXT1, EXTL1, EXTL3, EXTL2, EXT2, POMGNT2

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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  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Multiple Exostoses

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