HMO
MCID: HRD104
MIFTS: 41

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 25 54 26 30
Hereditary Multiple Exostoses 25 54 26 74
Multiple Cartilaginous Exostoses 25 26
Diaphyseal Aclasis 25 26
Multiple Exostoses 54 38
Exostoses, Multiple Hereditary 26
Multiple Congenital Exostosis 26
Multiple Hereditary Exostoses 26
Hereditary Multiple Exostosis 54
Exostoses Multiple Hereditary 56
Multiple Osteochondromatosis 26
Multiple Osteochondromas 26
Bessel-Hagen Disease 26
Osteochondromatosis 74
Familial Exostoses 26
Hmo 54

Characteristics:

GeneReviews:

25
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 38 H00122

Summaries for Hereditary Multiple Osteochondromas

NIH Rare Diseases : 54 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 drugs Angiotensin II and Enalapril have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and t cells.

Genetics Home Reference : 26 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 113)
# Related Disease Score Top Affiliating Genes
1 osteochondroma 32.7 EXT1 EXT2
2 exostoses, multiple, type i 32.1 EXT1 EXT2
3 enchondromatosis, multiple, ollier type 32.1 EXT1 EXT2
4 trichorhinophalangeal syndrome, type ii 31.7 EXT1 EXTL1 TRPS1
5 hereditary multiple exostoses 31.2 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
6 chondrosarcoma 30.1 EXT1 EXT2
7 trichorhinophalangeal syndrome 29.8 EXT1 TRPS1
8 hypertrichosis 29.5 EXT1 TRPS1
9 exostosis 29.2 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 heparin-induced thrombocytopenia 10.3
17 peripheral dysostosis 10.2
18 dysostosis 10.2
19 achalasia 10.2
20 spondyloarthropathy 1 10.1
21 leukemia 10.1
22 spondylitis 10.1
23 neuropathy 10.1
24 north american indian childhood cirrhosis 10.1
25 dysplasia epiphysealis hemimelica 10.1 EXT1 EXT2
26 multiple enchondromatosis, maffucci type 10.1 EXT1 EXT2
27 calcinosis 10.1
28 skeletal dysplasias 10.1
29 bone remodeling disease 10.1 EXT1 EXT2
30 dumping syndrome 10.0
31 legg-calve-perthes disease 10.0
32 osteoporosis 10.0
33 rheumatoid arthritis 10.0
34 arthritis 10.0
35 b-cell lymphomas 10.0
36 joint disorders 10.0
37 osteoarthritis 10.0
38 brachydactyly 10.0
39 lymphoma 10.0
40 giant cell tumor 10.0
41 syringomyelia 10.0
42 juvenile rheumatoid arthritis 10.0
43 spastic paraparesis 10.0
44 developmental dysplasia of the hip 1 10.0
45 keloid formation 10.0
46 schizophrenia 10.0
47 autism 10.0
48 osteogenic sarcoma 10.0
49 leukemia, acute myeloid 10.0
50 leukemia, acute lymphoblastic 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):

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
2
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
3
Losartan Approved Phase 3 114798-26-4 3961
4
Enalaprilat Approved Phase 3 76420-72-9 6917719
5
Amlodipine Approved Phase 3 88150-42-9 2162
6
Vorinostat Approved, Investigational Phase 3,Phase 1 149647-78-9 5311
7
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
8
SB-649868 Experimental, Investigational Phase 3 110-16-7, 110-17-8 444972
9 Vasodilator Agents Phase 3
10 Angiotensin Receptor Antagonists Phase 3
11 HIV Protease Inhibitors Phase 3
12 Hormones Phase 3
13
protease inhibitors Phase 3
14 Angiotensin II Type 1 Receptor Blockers Phase 3
15 Anti-Arrhythmia Agents Phase 3
16 Angiotensinogen Phase 3
17 Angiotensin-Converting Enzyme Inhibitors Phase 3
18 calcium channel blockers Phase 3
19 Calcium, Dietary Phase 3
20 Antihypertensive Agents Phase 3
21 Giapreza Phase 3
22 Histone Deacetylase Inhibitors Phase 3,Phase 1
23 Vaccines Phase 3
24 Immunologic Factors Phase 3
25
Metformin Approved Phase 2 657-24-9 14219 4091
26
Zinc Approved, Investigational Phase 2 7440-66-6 32051
27
Insulin glargine Approved Phase 2 160337-95-1
28
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
29 Insulin, Globin Zinc Phase 2,Not Applicable
30 insulin Phase 2,Not Applicable
31 Hypoglycemic Agents Phase 2
32 Phosphodiesterase 4 Inhibitors Phase 2
33 Cholinergic Antagonists Phase 2
34 MK 0873 Phase 2
35 Phosphodiesterase Inhibitors Phase 2
36
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
37
Decitabine Approved, Investigational Phase 1 2353-33-5 451668
38 Antimetabolites, Antineoplastic Phase 1
39 Antimetabolites Phase 1
40
Pimecrolimus Approved, Investigational 137071-32-0 17753757 6447131
41 Analgesics
42 Dermatologic Agents
43 Analgesics, Non-Narcotic
44 Calcineurin Inhibitors
45 Antirheumatic Agents
46 Immunosuppressive Agents
47 Anti-Inflammatory Agents, Non-Steroidal
48 Peripheral Nervous System Agents
49 Anti-Inflammatory Agents

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 An Extension Study Designed to Assess Effects of Losartan on Proteinuria in Pediatric Populations (MK-0954-326 AM1,EXT1(AM2)) Completed NCT00568178 Phase 3 Losartan Potassium;Comparator: amlodipine besylate;Enalapril Maleate
2 Suberoylanilide Hydroxamic Acid (Vorinostat, MK-0683) Versus Placebo in Advanced Malignant Pleural Mesothelioma (0683-014 AM5, EXT1) Completed NCT00128102 Phase 3 vorinostat;Placebo
3 An Investigational Study of Gardasil™ (qHPV Vaccine) in Reducing the Incidence of Anogenital Warts in Young Men (V501-020) Completed NCT00090285 Phase 3
4 A Study to Evaluate the Safety, Immune Response, and Efficacy of Gardasil (V501, qHPV) in Mid-Adult Women (V501-019) Completed NCT00090220 Phase 3
5 An Efficacy and Safety Study of Palovarotene for the Treatment of MO Recruiting NCT03442985 Phase 2 Palovarotene 2.5 mg;Palovarotene 5.0 mg
6 Dose Range Finding Study of MK-0941 in Patients With Type 2 Diabetes Mellitus on Insulin (MK-0941-007 AM3 EXT1 AM1)(TERMINATED) Terminated NCT00767000 Phase 2 MK-0941;Comparator: Placebo;Metformin
7 An Extension Study Evaluating Safety and Efficacy of Proellex® In Women Who Have Previously Completed ZPU 003 Ext Terminated NCT00958893 Phase 2 25 mg Proellex
8 An Investigational Drug Study In Patients With COPD (Chronic Obstructive Pulmonary Disease) (MK-0873-005) Terminated NCT00132730 Phase 2 MK-0873 2.5 mg;MK-0873 1.25 mg;MK-0873 0.75 mg;Placebo to MK-0873;Usual Care
9 Vorinostat (MK-0683) Phase I Study in Cutaneous T-Cell Lymphoma (CTCL) Patients (MK-0683-089 EXT1) Completed NCT00771472 Phase 1 vorinostat
10 Phase 1 Study of Vorinostat and Bortezomib in Multiple Myeloma (MK-0683-015 EXT 1 (AM1)) Completed NCT00111813 Phase 1 vorinostat;bortezomib
11 Phase I Trial of Vorinostat (MK-0683, SAHA) in Combination With Decitabine in Patients With AML or MDS (MK-0683-055 EXT1) Completed NCT00479232 Phase 1 vorinostat;decitabine
12 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
13 Exercise in Type 1 Diabetes Mellitus Completed NCT02075567 Not Applicable
14 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
15 Follow-Up Study of Patients Previously Treated With Pimecrolimus Tablets for Atopic Dermatitis Completed NCT00098150
16 Effect of Neuromuscular Electrical Stimulation Combined With Blood Flow Restriction on Muscular and Cardiovascular Function Not yet recruiting NCT03662555 Not Applicable
17 Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
18 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 30

Anatomical Context for Hereditary Multiple Osteochondromas

MalaCards organs/tissues related to Hereditary Multiple Osteochondromas:

42
Bone, Lung, T Cells, Testes, Spinal Cord

Publications for Hereditary Multiple Osteochondromas

Articles related to Hereditary Multiple Osteochondromas:

(show all 21)
# Title Authors Year
1
A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses. ( 30664192 )
2019
2
Identification of risk factors affecting bone formation in gradual ulnar lengthening in children with hereditary multiple exostoses: A retrospective study. ( 30702592 )
2019
3
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants. ( 30806661 )
2019
4
Current paediatric orthopaedic practice in hereditary multiple osteochondromas of the forearm: a systematic review. ( 29565244 )
2018
5
Chondrosarcoma transformation in hereditary multiple exostoses: A systematic review and clinical and cost-effectiveness of a proposed screening model. ( 30591865 )
2018
6
A Rare Presentation and Management of Forearm Deformity in a Patient with Hereditary Multiple Exostoses: A Case Report. ( 30045076 )
2018
7
Hereditary multiple exostoses of the ribs as an uncommon cause of pneumothorax: A case report. ( 30170381 )
2018
8
An extremely rare association of multiple familial trichoepitheliomas and hereditary multiple osteochondromas. ( 30246361 )
2018
9
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas. ( 30334991 )
2018
10
Minimally Invasive Total Hip Arthroplasty in a Patient with Hereditary Multiple Exostoses: A Case Report. ( 30555649 )
2018
11
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas. ( 28053536 )
2017
12
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
13
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. ( 26690531 )
2015
14
Spinal cord stimulation for treatment of the pain associated with hereditary multiple osteochondromas. ( 26316806 )
2015
15
Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas. ( 25990786 )
2015
16
Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas. ( 25744876 )
2015
17
Management of forearm deformities with ulnar shortening more than 15 mm caused by hereditary multiple osteochondromas. ( 23412166 )
2013
18
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. ( 16283885 )
2005
19
Dual aetiology hip pain requiring total hip arthroplasty in hereditary multiple exostoses: A case report and review of the literature. ( 28124343 )
2002
20
Hereditary multiple exostoses with thoracic cord compression. ( 29512591 )
1997
21
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:

38
# 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 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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