HMO
MCID: HRD104
MIFTS: 39

Hereditary Multiple Osteochondromas (HMO)

Categories: Bone diseases, Genetic diseases, Rare 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

Summaries for Hereditary Multiple Osteochondromas

NIH Rare Diseases : 53 Hereditary multiple osteochondromas (HMO), also called hereditary multiple exostoses, is a genetic disorder that causes the development of multiple, cartilage-covered tumors on the external surfaces of bones (osteochondromas). The osteochondromas typically become apparent during childhood or adolescence, and the number, size and location of osteochondromas varies from person to person. Signs and symptoms may include pain, decreased range of motion, nerve impingement, deformity, differences in limb length, short stature, and fractures. Osteochondromas of the ribs may cause complications such as a collapsed lung (pneumothorax), hemothorax, or pericardial effusion. Osteochondromas typically grow throughout childhood and stop growing when the growth plates close. However, they do recur later on in some people. While the vast majority of osteochondromas are benign (noncancerous), they may become malignant (cancerous) in adulthood in 2% to 5% of people with HMO. Most cases of HMO are caused by a mutation in the EXT1 or EXT2 gene with autosomal dominant inheritance. About 96% of females with a mutation responsible for HMO will develop osteochondromas (a phenomenon known as reduced penetrance), and 100% of males will develop osteochondromas. Treatment depends on the locations and sizes of osteochondromas and the severity of symptoms they cause. Examples of treatment options include a "watch and wait" approach (when no symptoms are present), surgical removal of the tumor, corrective osteotomy, and growth plate arrest or limb-lengthening procedures. While benign osteochondromas generally do not affect life expectancy, they still may cause a variety of health problems and debilitating symptoms that can impair quality of life. Osteochondromas that become malignant (turning into chondrosarcomas or osteosarcomas) can be life-threatening, but the outlook in these cases may depend on the tumor grade.

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. The drug Tretinoin has been mentioned in the context of this disorder. Affiliated tissues include bone, lung and heart.

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 top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 osteochondroma 32.5 EXT1 EXT2
2 exostoses, multiple, type i 32.1 EXT1 EXT2
3 enchondromatosis, multiple, ollier type 32.0 EXT1 EXT2
4 trichorhinophalangeal syndrome, type ii 31.8 EXT1 EXTL1 TRPS1
5 hereditary multiple exostoses 31.5 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
6 chondrosarcoma 30.0 EXT1 EXT2
7 trichorhinophalangeal syndrome 29.8 EXT1 TRPS1
8 hypertrichosis 29.6 EXT1 TRPS1
9 exostosis 29.5 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
10 spasticity multiple exostoses 12.2
11 multiple exostoses with spastic tetraparesis 12.2
12 polyposis, intestinal, with multiple exostoses 12.2
13 potocki-shaffer syndrome 11.7
14 exostoses, multiple, type ii 11.4
15 exostoses, multiple, type iii 11.4
16 peripheral dysostosis 10.2
17 dysostosis 10.2
18 achalasia 10.2
19 north american indian childhood cirrhosis 10.2
20 spondyloarthropathy 1 10.1
21 spondylitis 10.1
22 neuropathy 10.1
23 calcinosis 10.1
24 skeletal dysplasias 10.1
25 dysplasia epiphysealis hemimelica 10.1 EXT1 EXT2
26 multiple enchondromatosis, maffucci type 10.1 EXT1 EXT2
27 dumping syndrome 10.1
28 bone remodeling disease 10.0 EXT1 EXT2
29 legg-calve-perthes disease 10.0
30 osteoporosis 10.0
31 rheumatoid arthritis 10.0
32 arthritis 10.0
33 b-cell lymphomas 10.0
34 joint disorders 10.0
35 osteoarthritis 10.0
36 brachydactyly 10.0
37 scoliosis 10.0
38 giant cell tumor 10.0
39 syringomyelia 10.0
40 juvenile rheumatoid arthritis 10.0
41 spastic paraparesis 10.0
42 developmental dysplasia of the hip 1 10.0
43 keloid formation 10.0
44 schizophrenia 10.0
45 autism 10.0
46 osteogenic sarcoma 10.0
47 leukemia, acute myeloid 10.0
48 leukemia, acute lymphoblastic 10.0
49 leukemia 10.0
50 spinal stenosis 10.0

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

Drugs for Hereditary Multiple Osteochondromas (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795

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, Lung, Heart, Thyroid, T Cells, B Cells, Myeloid

Publications for Hereditary Multiple Osteochondromas

Articles related to Hereditary Multiple Osteochondromas:

(show all 30)
# Title Authors Year
1
Current paediatric orthopaedic practice in hereditary multiple osteochondromas of the forearm: a systematic review. ( 29565244 )
2018
2
A Rare Presentation and Management of Forearm Deformity in a Patient with Hereditary Multiple Exostoses: A Case Report. ( 30045076 )
2018
3
Hereditary multiple exostoses of the ribs as an uncommon cause of pneumothorax: A case report. ( 30170381 )
2018
4
An extremely rare association of multiple familial trichoepitheliomas and hereditary multiple osteochondromas. ( 30246361 )
2018
5
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas. ( 30334991 )
2018
6
Minimally Invasive Total Hip Arthroplasty in a Patient with Hereditary Multiple Exostoses: A Case Report. ( 30555649 )
2018
7
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas. ( 28053536 )
2017
8
Is hip dysplasia a common deformity in skeletally mature patients with hereditary multiple exostoses? ( 26951643 )
2016
9
Unusual case of hereditary multiple exostoses presenting with compressive myelopathy. ( 27154991 )
2016
10
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
11
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. ( 26690531 )
2015
12
Spinal cord stimulation for treatment of the pain associated with hereditary multiple osteochondromas. ( 26316806 )
2015
13
Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas. ( 25990786 )
2015
14
Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas. ( 25744876 )
2015
15
Bilateral total hip arthroplasty in a young man with hereditary multiple exostoses. ( 25564594 )
2015
16
Management of forearm deformities with ulnar shortening more than 15 mm caused by hereditary multiple osteochondromas. ( 23412166 )
2013
17
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. ( 16283885 )
2005
18
Intermediate grade osteosarcoma and chondrosarcoma arising in an osteochondroma. A case report of a patient with hereditary multiple exostoses. ( 11896078 )
2002
19
Dual aetiology hip pain requiring total hip arthroplasty in hereditary multiple exostoses: A case report and review of the literature. ( 28124343 )
2002
20
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. ( 11170095 )
2001
21
Multiple peripheral nerve compressions related to malignantly transformed hereditary multiple exostoses. ( 10918272 )
2000
22
Hereditary multiple exostoses with thoracic cord compression. ( 29512591 )
1997
23
An association between psoriasis and hereditary multiple exostoses. A clue for the mapping of a psoriasis susceptibility gene? ( 8204481 )
1994
24
Pseudoaneurysm of popliteal artery secondary to hereditary multiple exostoses: Case report. ( 17586933 )
1994
25
Hereditary Multiple Osteochondromas ( 20301413 )
1993
26
Hereditary multiple exostoses. ( 1856833 )
1991
27
Osteochondroma with cervical cord compression in hereditary multiple exostoses. ( 2205931 )
1990
28
Hereditary multiple exostoses. Report of a family. ( 6333306 )
1984
29
Picture of the month. Hereditary multiple exostoses (diaphyseal aclasis). ( 6608873 )
1984
30
Thoracic cord compression due to chondrosarcoma in two cousins with hereditary multiple exostoses. Report of two cases. ( 4536633 )
1972

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
13.07 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 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.32 EXT1 EXT2
6 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.26 EXT1 EXT2 EXTL2 EXTL3
7 cellular polysaccharide biosynthetic process GO:0033692 9.16 EXT1 EXT2
8 protein glycosylation GO:0006486 9.1 EXT1 EXT2 EXTL1 EXTL2 EXTL3 POMGNT2

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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