MCID: HRD104
MIFTS: 35

Hereditary Multiple Osteochondromas

Categories: Rare diseases, Genetic diseases, Bone diseases

Aliases & Classifications for Hereditary Multiple Osteochondromas

MalaCards integrated aliases for Hereditary Multiple Osteochondromas:

Name: Hereditary Multiple Osteochondromas 23 49 24 28
Hereditary Multiple Exostoses 23 49 24 69
Multiple Exostoses 49 36 28
Multiple Cartilaginous Exostoses 23 24
Diaphyseal Aclasis 23 24
Exostoses, Multiple Hereditary 24
Multiple Congenital Exostosis 24
Multiple Hereditary Exostoses 24
Hereditary Multiple Exostosis 49
Exostoses Multiple Hereditary 51
Multiple Osteochondromatosis 24
Multiple Osteochondromas 24
Bessel-Hagen Disease 24
Osteochondromatosis 69
Familial Exostoses 24
Hmo 49

Characteristics:

GeneReviews:

23
Penetrance The penetrance is estimated to be 96% in females and 100% in males. most published instances of reduced penetrance have occurred in females. however, comprehensive skeletal radiographs have not been performed in most of these instances...

Classifications:



External Ids:

KEGG 36 H00122
UMLS 69 C0206641

Summaries for Hereditary Multiple Osteochondromas

NIH Rare Diseases : 49 Hereditary multiple osteochondromas (HMO) (formerly called hereditary multiple exostoses) is a genetic condition in which people develop multiple benign (noncancerous) bone tumors that are covered by cartilage (called osteochondromas). The number and location of osteochondromas varies greatly among affected individuals. These tumors are not present at birth, but almost all affected people develop multiple osteochondromas by the time they are 12 years old. Once the bones stop growing, the development of new osteochondromas also usually stops. Osteochondromas can cause abnormal growth of the arms, hands, and legs, which can lead to uneven limb lengths (limb length discrepancy) and short stature. These tumors may cause pain, limit joint movement, and exert pressure on nerves, blood vessels, and surrounding tissues. Osteochondromas are typically benign; however, researchers estimate that people with HMO have about a 1% lifetime risk of these tumors becoming a cancerous osteochondrosarcoma. HMO is caused by mutations in the EXT1 and EXT2 genes and is inherited in an autosomal dominant pattern. Last updated: 5/8/2015

MalaCards based summary : Hereditary Multiple Osteochondromas, also known as hereditary multiple exostoses, is related to exostoses, multiple, type i and hereditary multiple exostoses. An important gene associated with Hereditary Multiple Osteochondromas is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - heparan sulfate / heparin and Metabolism. Affiliated tissues include bone, testes and spinal cord.

Genetics Home Reference : 24 Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 96 percent of affected people develop multiple osteochondromas by the time they are 12 years old. Osteochondromas typically form at the end of long bones and on flat bones such as the hip and shoulder blade.

GeneReviews: NBK1235

Related Diseases for Hereditary Multiple Osteochondromas

Graphical network of the top 20 diseases related to Hereditary Multiple Osteochondromas:



Diseases related to Hereditary Multiple Osteochondromas

Symptoms & Phenotypes for Hereditary Multiple Osteochondromas

Drugs & Therapeutics for Hereditary Multiple Osteochondromas

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Efficacy and Safety Study of Palovarotene for the Treatment of MO Not yet recruiting NCT03442985 Phase 2 Palovarotene 2.5 mg;Palovarotene 5.0 mg
2 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
3 Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
4 Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC Terminated NCT00473850

Search NIH Clinical Center for Hereditary Multiple Osteochondromas

Genetic Tests for Hereditary Multiple Osteochondromas

Genetic tests related to Hereditary Multiple Osteochondromas:

# Genetic test Affiliating Genes
1 Hereditary Multiple Osteochondromas 28
2 Multiple Exostoses 28

Anatomical Context for Hereditary Multiple Osteochondromas

MalaCards organs/tissues related to Hereditary Multiple Osteochondromas:

38
Bone, Testes, Spinal Cord

Publications for Hereditary Multiple Osteochondromas

Articles related to Hereditary Multiple Osteochondromas:

# Title Authors Year
1
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas. ( 28053536 )
2017
2
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. ( 26690531 )
2015
3
Identification of a rare case of intra-articular osteochondroma manifesting as three loose bodies in a patient with hereditary multiple osteochondromas: A case report. ( 26622573 )
2015
4
A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma. ( 26515642 )
2015
5
Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas. ( 25744876 )
2015
6
Spinal cord stimulation for treatment of the pain associated with hereditary multiple osteochondromas. ( 26316806 )
2015
7
Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas. ( 25990786 )
2015
8
Management of forearm deformities with ulnar shortening more than 15 mm caused by hereditary multiple osteochondromas. ( 23412166 )
2013
9
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. ( 16283885 )
2005
10
Hereditary Multiple Osteochondromas ( 20301413 )
1993

Variations for Hereditary Multiple Osteochondromas

ClinVar genetic disease variations for Hereditary Multiple Osteochondromas:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 EXT1 EXT1, 1-BP DEL, 2120T deletion Pathogenic
2 EXT1 EXT1, 1-BP DEL, 1364C deletion Pathogenic
3 EXT1 EXT1, 4-BP INS, NT1035 insertion Pathogenic
4 EXT1 NM_000127.2(EXT1): c.1019G> T (p.Arg340Leu) single nucleotide variant Pathogenic rs119103287 GRCh37 Chromosome 8, 118849384: 118849384
5 EXT1 NM_000127.2(EXT1): c.1016G> A (p.Gly339Asp) single nucleotide variant Pathogenic rs119103288 GRCh37 Chromosome 8, 118849387: 118849387
6 EXT1 NM_000127.2(EXT1): c.357C> A (p.Tyr119Ter) single nucleotide variant Pathogenic rs119103289 GRCh37 Chromosome 8, 119122929: 119122929
7 EXT1 NM_000127.2(EXT1): c.1018C> T (p.Arg340Cys) single nucleotide variant Pathogenic rs119103290 GRCh37 Chromosome 8, 118849385: 118849385
8 EXT1 EXT1, IVS1DS, G-C single nucleotide variant Pathogenic
9 EXT1 EXT1, 1-BP INS, 1664A insertion Pathogenic
10 EXT1 EXT1, IVS1DS, 4-BP DEL deletion Pathogenic
11 EXT1 GRCh37/hg19 8q24.11(chr8: 118825108-119054752)x3 copy number gain Pathogenic GRCh37 Chromosome 8, 118825108: 119054752
12 EXT1 NM_000127.2(EXT1): c.538_539delAG (p.Leu181Profs) deletion Pathogenic rs886039486 GRCh37 Chromosome 8, 119122747: 119122748
13 EXT1 NM_000127.2(EXT1): c.1418-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118832035: 118832035
14 EXT1 NM_000127.2(EXT1): c.1056+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118849345: 118849345
15 EXT1 NM_000127.2(EXT1): c.598_669del72 (p.Trp200_Thr223del) deletion Pathogenic GRCh38 Chromosome 8, 118110378: 118110449
16 EXT1 NM_000127.2(EXT1): c.1633-34_1670del72 deletion Pathogenic GRCh38 Chromosome 8, 117812924: 117812995
17 EXT1 NM_000127.2(EXT1): c.1431dup (p.Ser478Leufs) duplication Pathogenic GRCh38 Chromosome 8, 117819781: 117819781
18 EXT1 NM_000127.2(EXT1): c.1401delC (p.Tyr468Thrfs) deletion Pathogenic GRCh37 Chromosome 8, 118834720: 118834720
19 EXT1 NM_000127.2(EXT1): c.1056+3A> C single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118849344: 118849344

Expression for Hereditary Multiple Osteochondromas

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

Pathways for Hereditary Multiple Osteochondromas

Pathways related to Hereditary Multiple Osteochondromas according to KEGG:

36
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - heparan sulfate / heparin hsa00534

Pathways related to Hereditary Multiple Osteochondromas according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 EXT1 EXT2 EXTL1 EXTL2 EXTL3 POMGNT2
2
Show member pathways
10.85 EXT1 EXT2 EXTL1 EXTL2 EXTL3

GO Terms for Hereditary Multiple Osteochondromas

Cellular components related to Hereditary Multiple Osteochondromas according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.43 EXT1 EXT2 EXTL1 EXTL2 EXTL3 POMGNT2
2 endoplasmic reticulum membrane GO:0005789 9.1 EXT1 EXT2 EXTL1 EXTL2 EXTL3 POMGNT2

Biological processes related to Hereditary Multiple Osteochondromas according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.54 EXT1 EXTL1 TRPS1
2 ossification GO:0001503 9.43 EXT1 EXT2
3 IRE1-mediated unfolded protein response GO:0036498 9.43 EXTL1 EXTL2 EXTL3
4 glycosaminoglycan biosynthetic process GO:0006024 9.4 EXT1 EXT2
5 protein glycosylation GO:0006486 9.35 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
6 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.32 EXT1 EXT2
7 cellular polysaccharide biosynthetic process GO:0033692 9.16 EXT1 EXT2
8 heparan sulfate proteoglycan biosynthetic process GO:0015012 8.92 EXT1 EXT2 EXTL2 EXTL3

Molecular functions related to Hereditary Multiple Osteochondromas according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.88 EXT1 EXT2 EXTL1 EXTL2 EXTL3 POMGNT2
2 glucuronosyltransferase activity GO:0015020 9.43 EXT1 EXT2
3 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.37 EXT1 EXT2
4 acetylglucosaminyltransferase activity GO:0008375 9.33 EXT1 EXT2 POMGNT2
5 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.32 EXT1 EXT2
6 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0001888 9.26 EXTL2 EXTL3
7 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.13 EXT1 EXT2 EXTL1
8 transferase activity, transferring glycosyl groups GO:0016757 9.1 EXT1 EXT2 EXTL1 EXTL2 EXTL3 POMGNT2

Sources for Hereditary Multiple Osteochondromas

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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