MCID: HRD104
MIFTS: 43

Hereditary Multiple Osteochondromas

Categories: Rare diseases, Genetic diseases, Bone diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Hereditary Multiple Osteochondromas

MalaCards integrated aliases for Hereditary Multiple Osteochondromas:

Name: Hereditary Multiple Osteochondromas 23 50 24 25 29
Hereditary Multiple Exostoses 23 50 24 25 69
Multiple Cartilaginous Exostoses 23 24 25 56
Diaphyseal Aclasis 23 24 25
Multiple Osteochondromas 25 56
Bessel-Hagen Disease 25 56
Multiple Exostoses 50 29
Exostoses, Multiple Hereditary 25
Multiple Congenital Exostosis 25
Hereditary Multiple Exostosis 50
Multiple Hereditary Exostoses 25
Exostoses Multiple Hereditary 52
Multiple Osteochondromatosis 25
Osteochondromatosis 69
Familial Exostoses 25
Hmo 50
Hme 24

Characteristics:

Orphanet epidemiological data:

56
multiple osteochondromas
Inheritance: Autosomal dominant; Prevalence: >1/1000,1-9/1000000 (United Kingdom),1-9/100000 (Netherlands),1-9/100000 (Europe),1-9/100000 (United States); Age of onset: Childhood;

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:



Summaries for Hereditary Multiple Osteochondromas

NIH Rare Diseases : 50 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 trichorhinophalangeal syndrome, type ii and hereditary multiple exostoses, and has symptoms including anteverted nares, muscle weakness and failure to thrive. An important gene associated with Hereditary Multiple Osteochondromas is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Metabolism and heparan sulfate biosynthesis. 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

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



Diseases related to Hereditary Multiple Osteochondromas

Symptoms & Phenotypes for Hereditary Multiple Osteochondromas

Human phenotypes related to Hereditary Multiple Osteochondromas:

56 32 (show all 40)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0000463
2 muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0001324
3 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 abnormality of the pericardium 56 32 occasional (7.5%) Occasional (29-5%) HP:0001697
5 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
6 bone pain 56 32 frequent (33%) Frequent (79-30%) HP:0002653
7 recurrent fractures 56 32 occasional (7.5%) Occasional (29-5%) HP:0002757
8 osteoarthritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002758
9 multiple exostoses 56 32 hallmark (90%) Very frequent (99-80%) HP:0002762
10 osteolysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002797
11 genu valgum 56 32 frequent (33%) Frequent (79-30%) HP:0002857
12 micromelia 56 32 frequent (33%) Frequent (79-30%) HP:0002983
13 radial bowing 56 32 frequent (33%) Frequent (79-30%) HP:0002986
14 hypoplasia of the ulna 56 32 frequent (33%) Frequent (79-30%) HP:0003022
15 elbow dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0003042
16 abnormality of the humerus 56 32 hallmark (90%) Very frequent (99-80%) HP:0003063
17 madelung deformity 56 32 frequent (33%) Frequent (79-30%) HP:0003067
18 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
19 hemiplegia/hemiparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004374
20 chondrosarcoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0006765
21 cranial nerve paralysis 56 32 frequent (33%) Frequent (79-30%) HP:0006824
22 abnormal pyramidal signs 56 32 occasional (7.5%) Occasional (29-5%) HP:0007256
23 aseptic necrosis 56 32 frequent (33%) Frequent (79-30%) HP:0010885
24 synostosis of joints 56 32 occasional (7.5%) Occasional (29-5%) HP:0100240
25 abnormality of the teeth 56 Frequent (79-30%)
26 abnormality of the metaphyses 56 Frequent (79-30%)
27 aneurysm 56 Occasional (29-5%)
28 abnormality of pelvic girdle bone morphology 56 Occasional (29-5%)
29 neoplasm 56 Occasional (29-5%)
30 abnormality of the upper limb 56 Frequent (79-30%)
31 abnormality of the femur 56 Frequent (79-30%)
32 abnormality of the tibia 56 Very frequent (99-80%)
33 pelvic exostoses 56 Occasional (29-5%)
34 exostoses 56 Frequent (79-30%)
35 abnormality of the dentition 32 frequent (33%) HP:0000164
36 abnormality of the metaphysis 32 frequent (33%) HP:0000944
37 dilatation 32 occasional (7.5%) HP:0002617
38 abnormality of femur morphology 32 frequent (33%) HP:0002823
39 abnormality of tibia morphology 32 hallmark (90%) HP:0002992
40 pelvic bone exostoses 32 occasional (7.5%) HP:0003276

Drugs & Therapeutics for Hereditary Multiple Osteochondromas

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
2 Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
3 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:

id Genetic test Affiliating Genes
1 Hereditary Multiple Osteochondromas 29 24 EXT2
2 Multiple Exostoses 29

Anatomical Context for Hereditary Multiple Osteochondromas

MalaCards organs/tissues related to Hereditary Multiple Osteochondromas:

39
Bone, Testes, Spinal Cord

Publications for Hereditary Multiple Osteochondromas

Articles related to Hereditary Multiple Osteochondromas:

id Title Authors Year
1
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas. ( 28053536 )
2017
2
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
3
A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma. ( 26515642 )
2015
4
Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas. ( 25990786 )
2015
5
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. ( 26690531 )
2015
6
Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas. ( 25744876 )
2015
7
Spinal cord stimulation for treatment of the pain associated with hereditary multiple osteochondromas. ( 26316806 )
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 11)
id 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

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 GeneCards Suite gene sharing:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.54 EXT1 EXTL1 TRPS1
2 protein glycosylation GO:0006486 9.46 EXT1 EXT2 EXTL1 POMGNT2
3 ossification GO:0001503 9.43 EXT1 EXT2
4 IRE1-mediated unfolded protein response GO:0036498 9.43 EXTL1 EXTL2 EXTL3
5 glycosaminoglycan biosynthetic process GO:0006024 9.4 EXT1 EXT2
6 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.32 EXT1 EXT2
7 cellular polysaccharide biosynthetic process GO:0033692 8.96 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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