MCID: HRD001
MIFTS: 57

Hereditary Multiple Exostoses malady

Genetic diseases, Bone diseases, Rare diseases, Metabolic diseases, Fetal diseases, Cancer diseases categories
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Summaries for Hereditary Multiple Exostoses

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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 based summary: 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 EXT1 (exostosin glycosyltransferase 1), 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 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:65 Hereditary multiple exostoses (HME or MHE), also known as Diaphyseal aclasis, is a rare medical... more...

Descriptions from OMIM:46 133700,133701

Aliases & Classifications for Hereditary Multiple Exostoses

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Hereditary Multiple Exostoses, Aliases & Descriptions:

Name: Hereditary Multiple Exostoses 8 65 21 62
Multiple Congenital Exostosis 8 22 21 62
Hereditary Multiple Exostoses 2 8 22
Exostoses, Multiple Hereditary 21 62
Multiple Osteochondromatosis 21 62
Multiple Exostosis Syndromes 8 62
Bessel-Hagen Disease 21 62
Diaphyseal Aclasis 21 62
Exostoses, Multiple Cartilaginous 62
 
Multiple Cartilaginous Exostoses 21
Hereditary Multiple Exostoses 1 8
Exostoses Multiple Hereditary 44
Multiple Hereditary Exostoses 21
Osteochondromatosis Syndrome 8
Osteochondromas, Multiple 62
Multiple Osteochondromas 21
Exostoses, Familial 62
Familial Exostoses 21


Classifications:



External Ids:

Disease Ontology8 DOID:206
NCIt39 C5183
MeSH34 D005097

Related Diseases for Hereditary Multiple Exostoses

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Diseases in the Exostoses, Multiple, Type 1 family:

hereditary multiple exostoses Exostoses, Multiple, Type 2
Exostoses, Multiple, Type 3

Diseases related to Hereditary Multiple Exostoses via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondroma31.4EXT1, EXT2
2hereditary multiple osteochondromas31.1EXT1, EXT2
3exostosis31.0POMGNT2, EXT2, EXT1
4chondrosarcoma30.9EXT2, EXT1, POMGNT2
5ollier disease30.4EXT1, EXT2
6cervicitis10.7
7ankylosing spondylitis10.3
8leukemia10.3
9neuropathy10.3
10spondylitis10.3
11calcinosis10.3
12exostoses, multiple, type 110.3
13skeletal dysplasias10.3
14dysostosis10.3
15hereditary multiple osteochondromatosis, type i10.3
16hereditary multiple osteochondromatosis, type ii10.3
17acute lymphoblastic leukemia10.2
18acute myeloid leukemia10.2
19keloids10.2
20schizophrenia10.2
21spinal stenosis10.2
22femoral neuropathy10.2
23acute cervicitis10.2
24adenocarcinoma10.2
25astrocytoma10.2
26breast adenocarcinoma10.2
27cerebellar astrocytoma10.2
28lymphoblastic leukemia10.2
29myeloid leukemia10.2
30osteosarcoma10.2
31pericardial effusion10.2
32pseudohypoparathyroidism10.2
33psoriasis10.2
34exostoses, multiple, type 210.2
35keloid formation10.2
36aneurysm10.2
37dysphagia10.2
38spasticity10.2
39pre-b-cell acute lymphoblastic leukemia10.2
40secondary syphilis10.2EXT1, EXT2
41autosomal dominant disease10.1EXT1, EXT2
42severe combined immunodeficiency10.1
43fibrodysplasia ossificans progressiva10.1
44osteogenesis imperfecta10.1
45muenke syndrome10.1
46metachondromatosis10.1
47bone cancer10.0EXT2, EXT1

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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Clinical features from OMIM:

133700,133701

Drugs & Therapeutics for Hereditary Multiple Exostoses

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Drug clinical trials:

Search ClinicalTrials for Hereditary Multiple Exostoses

Search NIH Clinical Center for Hereditary Multiple Exostoses

Genetic Tests for Hereditary Multiple Exostoses

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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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MalaCards organs/tissues related to Hereditary Multiple Exostoses:

32
Bone, Spinal cord, Colon, Testes, Myeloid, B cells

Animal Models for Hereditary Multiple Exostoses or affiliated genes

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Publications for Hereditary Multiple Exostoses

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Articles related to Hereditary Multiple Exostoses:

(show top 50)    (show all 174)
idTitleAuthorsYear
1
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. (24532482)
2014
2
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. (24496678)
2014
3
A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses. (24728384)
2014
4
Pre-B-cell acute lymphoblastic leukemia in a boy with hereditary multiple exostoses caused by EXT1 deletion. (25116165)
2014
5
Spontaneous pneumothoraces in hereditary multiple exostoses. (23471158)
2013
6
Skeletal growth patterns in hereditary multiple exostoses: a natural history. (22139142)
2012
7
Bilateral ischiofemoral impingement in a patient with hereditary multiple exostoses. (22865159)
2012
8
Radiology quiz case 2. Diagnosis: Osteochondroma arising from the lateral process of C4 and hereditary multiple exostoses (HME). (20855690)
2010
9
Hereditary multiple exostoses with spine involvement in a 4-year-old boy. (20425832)
2010
10
Hereditary multiple exostoses: case report. (20499760)
2010
11
Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene. (18330718)
2009
12
Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. (19839753)
2009
13
The molecular and cellular basis of exostosis formation in hereditary multiple exostoses. (19335558)
2009
14
The molecular and cellular basis of exostosis formation in hereditary multiple exostoses. (18452536)
2008
15
A novel mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses. (18666861)
2008
16
Radiology for the surgeon: musculoskeletal case 42. Chondrosarcoma arising from an osteochondroma in a patient with hereditary multiple exostoses (osteochondromatosis). (18841209)
2008
17
EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses]. (18067075)
2007
18
Hereditary multiple exostoses with pseudoaneurysm. (17225974)
2007
19
Acute spinal cord compression in hereditary multiple exostoses. (16311838)
2006
20
Nail deformity associated with hereditary multiple exostoses. (16112375)
2005
21
Hereditary multiple exostoses of the ribs: an unusual cause of hemothorax and pericardial effusion. (16034772)
2005
22
The short-lived exostosis induced surgically versus the lasting genetic hereditary multiple exostoses. (12645631)
2003
23
Popliteal artery pseudo-aneurysm and hereditary multiple exostoses. (12561156)
2002
24
Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1. (12032595)
2002
25
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. (11391482)
2001
26
Successful removal of a giant recurrent chondrosarcoma of the thoracic wall in a patient with hereditary multiple exostoses. (11289764)
2001
27
The hip in hereditary multiple exostoses. (11603538)
2001
28
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
29
Acetabular dysplasia associated with hereditary multiple exostoses. A case report. (10855881)
2000
30
An R223P mutation in EXT2 gene causes hereditary multiple exostoses. (10738008)
2000
31
Hereditary multiple exostoses and acute myeloid leukemia: an unusual association. (11127404)
2000
32
Multiple peripheral nerve compressions related to malignantly transformed hereditary multiple exostoses. (10918272)
2000
33
Mutation analysis of hereditary multiple exostoses in the Chinese. (10480354)
1999
34
A thoracic complication of hereditary multiple exostoses in an adult. (10464882)
1999
35
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. (8981950)
1997
36
Cervical spinal cord compression in hereditary multiple exostoses. Report of a case and a review of the literature. (9006779)
1997
37
Function of the upper extremities in hereditary multiple exostoses. (8609135)
1996
38
Natural history study of hereditary multiple exostoses. (7702095)
1995
39
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). (7550340)
1995
40
Nuclear medicine case of the day. Hereditary multiple exostoses. (1590162)
1992
41
Hereditary multiple exostoses. (1856833)
1991
42
Radiographic findings in hereditary multiple exostoses and a new theory of the pathogenesis of exostoses. (2251004)
1990
43
Hereditary multiple exostoses. (3046271)
1988
44
Bone scintigraphy in hereditary multiple exostoses. (3262515)
1988
45
Lengthening the ulna in patients with hereditary multiple exostoses. (3488318)
1986
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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Clinvar genetic disease variations for Hereditary Multiple Exostoses:

6
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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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

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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)37
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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Sources:
44Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
See all sources

Compounds related to Hereditary Multiple Exostoses according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1daunorubicin44 50 1111.6MYC, POMGNT2
2Uridine diphosphate-N-acetylglucosamine248.4EXT1, EXTL3, EXT2, EXTL2, EXTL1
3heparan sulfate44 248.6POMGNT2, EXTL1, EXTL2, EXT2, EXTL3, EXT1
4Uridine 5'-diphosphate247.5EXTL1, EXTL2, EXT2, EXTL3, EXT1, GALNT5

GO Terms for genes affiliated with Hereditary Multiple Exostoses

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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:0018889.4EXTL2, EXTL3
7acetylglucosaminyltransferase activityGO:0083759.4EXT1, EXT2, POMGNT2

Products for genes affiliated with Hereditary Multiple Exostoses

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet