MCID: HRD001
MIFTS: 55

Hereditary Multiple Exostoses malady

Genetic diseases, Bone diseases, Rare diseases, Fetal diseases, Cancer diseases categories

Summaries for Hereditary Multiple Exostoses

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9Disease Ontology, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 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 heparan sulfate biosynthesis. The compounds daunorubicin and Uridine diphosphate-N-acetylglucosamine have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and testes.

Disease Ontology:9 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:66 Hereditary multiple exostoses (HME or MHE), also known as Diaphyseal aclasis, is a rare medical... more...

Description from OMIM:48 133701,133700

Aliases & Classifications for Hereditary Multiple Exostoses

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9Disease Ontology, 66Wikipedia, 23GTR, 22Genetics Home Reference, 46Novoseek, 59SNOMED-CT, 48OMIM, 36MeSH, 41NCIt, 63UMLS
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Classifications:



Aliases & Descriptions:

hereditary multiple exostoses 9 66 22
multiple congenital exostosis 9 23 22
hereditary multiple exostoses 2 9 23
multiple cartilaginous exostoses 22
hereditary multiple exostoses 1 9
exostoses, multiple hereditary 22
exostoses multiple hereditary 46
multiple hereditary exostoses 22
multiple exostosis syndromes 9
multiple osteochondromatosis 22
osteochondromatosis syndrome 9
multiple osteochondromas 22
bessel-hagen disease 22
familial exostoses 22
diaphyseal aclasis 22


External Ids:

Disease Ontology9 DOID:206
MeSH36 D005097
NCIt41 C5183

Related Diseases for Hereditary Multiple Exostoses

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Hereditary Multiple Exostoses:



Diseases related to hereditary multiple exostoses

Symptoms for Hereditary Multiple Exostoses

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48OMIM
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Clinical features from OMIM:

133701,133700

Drugs & Therapeutics for Hereditary Multiple Exostoses

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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23GTR
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Genetic tests related to Hereditary Multiple Exostoses:

id Genetic test Affiliating Genes
1 Multiple Congenital Exostosis23
2 Hereditary Multiple Exostoses, Type Ii23

Anatomical Context for Hereditary Multiple Exostoses

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34MalaCards
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MalaCards organs/tissues related to Hereditary Multiple Exostoses:

34
Bone, Spinal cord, Testes, Colon, Myeloid

Animal Models for Hereditary Multiple Exostoses or affiliated genes

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Publications for Hereditary Multiple Exostoses

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53PubMed
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Articles related to Hereditary Multiple Exostoses:

(show top 50)    (show all 167)
idTitleAuthorsYear
1
Spontaneous pneumothoraces in hereditary multiple exostoses. (23471158)
2013
2
Skeletal growth patterns in hereditary multiple exostoses: a natural history. (22139142)
2012
3
Bilateral ischiofemoral impingement in a patient with hereditary multiple exostoses. (22865159)
2012
4
Radiology quiz case 2. Diagnosis: Osteochondroma arising from the lateral process of C4 and hereditary multiple exostoses (HME). (20855690)
2010
5
Hereditary multiple exostoses with spine involvement in a 4-year-old boy. (20425832)
2010
6
Hereditary multiple exostoses: case report. (20499760)
2010
7
Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene. (18330718)
2009
8
Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. (19839753)
2009
9
The molecular and cellular basis of exostosis formation in hereditary multiple exostoses. (19335558)
2009
10
The molecular and cellular basis of exostosis formation in hereditary multiple exostoses. (18452536)
2008
11
A novel mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses. (18666861)
2008
12
Radiology for the surgeon: musculoskeletal case 42. Chondrosarcoma arising from an osteochondroma in a patient with hereditary multiple exostoses (osteochondromatosis). (18841209)
2008
13
EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses]. (18067075)
2007
14
Hereditary multiple exostoses with pseudoaneurysm. (17225974)
2007
15
Acute spinal cord compression in hereditary multiple exostoses. (16311838)
2006
16
Nail deformity associated with hereditary multiple exostoses. (16112375)
2005
17
Hereditary multiple exostoses of the ribs: an unusual cause of hemothorax and pericardial effusion. (16034772)
2005
18
The short-lived exostosis induced surgically versus the lasting genetic hereditary multiple exostoses. (12645631)
2003
19
Popliteal artery pseudo-aneurysm and hereditary multiple exostoses. (12561156)
2002
20
Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1. (12032595)
2002
21
Intermediate grade osteosarcoma and chondrosarcoma arising in an osteochondroma. A case report of a patient with hereditary multiple exostoses. (11896078)
2002
22
From gene to disease; hereditary multiple exostoses]. (11845565)
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
The hip in hereditary multiple exostoses. (11603538)
2001
26
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
27
Acetabular dysplasia associated with hereditary multiple exostoses. A case report. (10855881)
2000
28
An R223P mutation in EXT2 gene causes hereditary multiple exostoses. (10738008)
2000
29
Hereditary multiple exostoses and acute myeloid leukemia: an unusual association. (11127404)
2000
30
Multiple peripheral nerve compressions related to malignantly transformed hereditary multiple exostoses. (10918272)
2000
31
Mutation analysis of hereditary multiple exostoses in the Chinese. (10480354)
1999
32
A thoracic complication of hereditary multiple exostoses in an adult. (10464882)
1999
33
Cavernous sinus haemangioma with hereditary multiple exostoses. (10514594)
1999
34
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. (8981950)
1997
35
Cervical spinal cord compression in hereditary multiple exostoses. Report of a case and a review of the literature. (9006779)
1997
36
Function of the upper extremities in hereditary multiple exostoses. (8609135)
1996
37
Natural history study of hereditary multiple exostoses. (7702095)
1995
38
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). (7550340)
1995
39
Nuclear medicine case of the day. Hereditary multiple exostoses. (1590162)
1992
40
Hereditary multiple exostoses. (1856833)
1991
41
Radiographic findings in hereditary multiple exostoses and a new theory of the pathogenesis of exostoses. (2251004)
1990
42
Hereditary multiple exostoses. (3046271)
1988
43
Bone scintigraphy in hereditary multiple exostoses. (3262515)
1988
44
Lengthening the ulna in patients with hereditary multiple exostoses. (3488318)
1986
45
Hereditary multiple exostoses. A rare cause of arterial insufficiency. (6601922)
1983
46
Osteochondroma with thoracic cord compression in hereditary multiple exostoses: a case report. (312508)
1979
47
Paraparesis in hereditary multiple exostoses: case report. (381970)
1979
48
Hereditary multiple exostoses: clinicopathologic features of a comparative study in horses and man. (314250)
1979
49
Hereditary multiple exostoses. (14949405)
1952
50
Chondrosarcoma of the ilium complicating hereditary multiple exostoses. (14858831)
1951

Variations for Hereditary Multiple Exostoses

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hereditary Multiple Exostoses:

1
id Gene Name Type Significance SNP ID Assembly Location
1EXT1NM_000127.2(EXT1): c.1019G> T (p.Arg340Leu)single nucleotide variantPathogenicrs119103287GRCh37Chr 8, 118849384: 118849384
2EXT1NM_000127.2(EXT1): c.1016G> A (p.Gly339Asp)single nucleotide variantPathogenicrs119103288GRCh37Chr 8, 118849387: 118849387
3EXT1NM_000127.2(EXT1): c.357C> A (p.Tyr119Ter)single nucleotide variantPathogenicrs119103289GRCh37Chr 8, 119122929: 119122929
4EXT1NM_000127.2(EXT1): c.1018C> T (p.Arg340Cys)single nucleotide variantPathogenicrs119103290GRCh37Chr 8, 118849385: 118849385

Expression for genes affiliated with Hereditary Multiple Exostoses

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2BioGPS, 16Gene 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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51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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Pathways related to Hereditary Multiple Exostoses according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8EXT1, EXT2
2
Show member pathways
heparan sulfate biosynthesis (late stages)39
8.4EXT1, EXTL3, EXT2, EXTL2, EXTL1
3
Show member pathways
7.6EXTL1, EXTL2, EXT2, EXTL3, EXT1, GALNT5

Compounds for genes affiliated with Hereditary Multiple Exostoses

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46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB
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Compounds related to Hereditary Multiple Exostoses according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1daunorubicin46 52 1211.6MYC, POMGNT2
2Uridine diphosphate-N-acetylglucosamine258.4EXT1, EXTL3, EXT2, EXTL2, EXTL1
3heparan sulfate46 258.6POMGNT2, EXTL1, EXTL2, EXT2, EXTL3, EXT1
4Uridine 5'-diphosphate257.5EXTL1, EXTL2, EXT2, EXTL3, EXT1, GALNT5

GO Terms for genes affiliated with Hereditary Multiple Exostoses

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17Gene Ontology
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Cellular components related to Hereditary Multiple Exostoses according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi membraneGO:0001399.0GALNT5, EXT1, EXT2
2intrinsic component of endoplasmic reticulum membraneGO:0312278.8EXTL3, EXT2, EXTL2, EXTL1
3endoplasmic reticulum membraneGO:0057898.7POMGNT2, EXT2, EXTL3, EXT1
4endoplasmic reticulumGO:0057838.4POMGNT2, EXTL2, EXT2, EXTL3, EXT1
5integral component of membraneGO:0160217.0POMGNT2, EXTL1, EXTL2, EXT2, EXTL3, EXT1

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

idNameGO IDScoreTop Affiliating Genes
1cellular polysaccharide biosynthetic processGO:0336929.8EXT2, EXT1
2ossificationGO:0015039.8EXT1, EXT2
3heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic processGO:0150149.7EXT1, EXT2
4glycosaminoglycan biosynthetic processGO:0060249.1GALNT5, EXT1, EXT2
5protein glycosylationGO:0064869.1EXT1, EXT2, EXTL1
6heparan sulfate proteoglycan biosynthetic processGO:0150129.0EXT1, EXTL3, EXT2, EXTL2

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:0505099.9EXT2, EXT1
2heparan sulfate N-acetylglucosaminyltransferase activityGO:0423289.8EXT2, EXT1
3glucuronosyltransferase activityGO:0150209.8EXT1, EXT2
4transferase activity, transferring glycosyl groupsGO:0167579.5EXT1, EXT2
5glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:0505089.5EXT1, EXT2, EXTL1
6glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activityGO:0018889.5EXTL2, EXTL3
7acetylglucosaminyltransferase activityGO:0083759.4EXT1, EXT2, POMGNT2

Products for genes affiliated with Hereditary Multiple Exostoses

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Sources for Hereditary Multiple Exostoses

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet