MCID: HRD104
MIFTS: 33

Hereditary Multiple Osteochondromas

Categories: Rare diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Hereditary Multiple Osteochondromas

MalaCards integrated aliases for Hereditary Multiple Osteochondromas:

Name: Hereditary Multiple Osteochondromas 24 53 25 29
Hereditary Multiple Exostoses 24 53 25 73
Multiple Cartilaginous Exostoses 24 25
Diaphyseal Aclasis 24 25
Multiple Exostoses 53 37
Exostoses, Multiple Hereditary 25
Multiple Congenital Exostosis 25
Multiple Hereditary Exostoses 25
Hereditary Multiple Exostosis 53
Exostoses Multiple Hereditary 55
Multiple Osteochondromatosis 25
Multiple Osteochondromas 25
Bessel-Hagen Disease 25
Osteochondromatosis 73
Familial Exostoses 25
Hmo 53

Characteristics:

GeneReviews:

24
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 37 H00122
UMLS 73 C0206641

Summaries for Hereditary Multiple Osteochondromas

NIH Rare Diseases : 53 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.

MalaCards based summary : Hereditary Multiple Osteochondromas, also known as hereditary multiple exostoses, is related to osteochondroma and exostoses, multiple, type i. An important gene associated with Hereditary Multiple Osteochondromas is EXT2 (Exostosin Glycosyltransferase 2), 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 : 25 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

Diseases in the Osteochondroma family:

Hereditary Multiple Osteochondromas

Diseases related to Hereditary Multiple Osteochondromas via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 osteochondroma 32.4 EXT1 EXT2
2 exostoses, multiple, type i 32.1 EXT1 EXT2
3 hereditary multiple exostoses 29.8 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
4 exostosis 29.2 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
5 exostoses, multiple, type ii 11.1
6 exostoses, multiple, type iii 11.1
7 dysplasia epiphysealis hemimelica 10.3 EXT1 EXT2
8 multiple enchondromatosis, maffucci type 10.3 EXT1 EXT2
9 enchondromatosis, multiple, ollier type 10.2 EXT1 EXT2
10 bone remodeling disease 10.1 EXT1 EXT2
11 trichorhinophalangeal syndrome 10.0 EXT1 TRPS1
12 chondrosarcoma 9.7 EXT1 EXT2
13 hypertrichosis 9.6 EXT1 TRPS1
14 trichorhinophalangeal syndrome, type ii 9.5 EXT1 EXTL1 TRPS1
15 trichorhinophalangeal syndrome, type i 9.5 EXT1 EXTL1 TRPS1

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 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 29

Anatomical Context for Hereditary Multiple Osteochondromas

MalaCards organs/tissues related to Hereditary Multiple Osteochondromas:

41
Bone, Testes, Spinal Cord

Publications for Hereditary Multiple Osteochondromas

Articles related to Hereditary Multiple Osteochondromas:

(show all 12)
# Title Authors Year
1
Current paediatric orthopaedic practice in hereditary multiple osteochondromas of the forearm: a systematic review. ( 29565244 )
2018
2
Novel exostosin-2 mutation identified in a Chinese family with hereditary multiple osteochondroma. ( 29541207 )
2018
3
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas. ( 28053536 )
2017
4
A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma. ( 26515642 )
2015
5
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
6
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. ( 26690531 )
2015
7
Spinal cord stimulation for treatment of the pain associated with hereditary multiple osteochondromas. ( 26316806 )
2015
8
Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas. ( 25990786 )
2015
9
Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas. ( 25744876 )
2015
10
Management of forearm deformities with ulnar shortening more than 15 mm caused by hereditary multiple osteochondromas. ( 23412166 )
2013
11
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. ( 16283885 )
2005
12
Hereditary Multiple Osteochondromas ( 20301413 )
1993

Variations for Hereditary Multiple Osteochondromas

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:

37
# 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 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0001888 9.32 EXTL2 EXTL3
6 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.26 EXT1 EXT2
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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