MCID: HRD001
MIFTS: 45

Hereditary Multiple Exostoses

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

Aliases & Classifications for Hereditary Multiple Exostoses

MalaCards integrated aliases for Hereditary Multiple Exostoses:

Name: Hereditary Multiple Exostoses 12 72 14 69
Multiple Congenital Exostosis 12 28
Osteochondromatosis Syndrome [ambiguous] 12
Hereditary Multiple Exostoses 1 12
Hereditary Multiple Exostoses 2 12
Hereditary Multiple Exostoses 3 12
Exostoses, Multiple Hereditary 41
Multiple Hereditary Exostoses 72
Multiple Exostosis Syndromes 12
Multiple Ostechondromas 12

Classifications:



External Ids:

Disease Ontology 12 DOID:206
ICD10 32 Q78.6
MeSH 41 D005097
NCIt 46 C5183
UMLS 69 C0015306

Summaries for Hereditary Multiple Exostoses

Disease Ontology : 12 An exostosis that has material basis in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth.

MalaCards based summary : Hereditary Multiple Exostoses, also known as multiple congenital exostosis, is related to exostoses, multiple, type i and enchondromatosis, multiple, ollier type. An important gene associated with Hereditary Multiple Exostoses is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Metabolism and heparan sulfate biosynthesis. The drugs Amlodipine and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and t cells.

Related Diseases for Hereditary Multiple Exostoses

Diseases in the Hereditary Multiple Exostoses family:

Exostoses, Multiple, Type I Exostoses, Multiple, Type Ii
Exostoses, Multiple, Type Iii

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 exostoses, multiple, type i 32.9 EXT1 EXT2
2 enchondromatosis, multiple, ollier type 31.6 EXT1 EXT2
3 hereditary multiple osteochondromas 30.8 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
4 osteochondroma 30.6 EXT1 EXT2
5 chondrosarcoma 30.0 EXT1 EXT2
6 trichorhinophalangeal syndrome, type ii 29.4 EXT1 EXTL1
7 exostosis 28.4 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
8 exostoses, multiple, type ii 12.0
9 exostoses, multiple, type iii 11.1
10 cervicitis 10.4
11 dysplasia epiphysealis hemimelica 10.1 EXT1 EXT2
12 episodic pain syndrome, familial, 1 10.1
13 multiple enchondromatosis, maffucci type 10.1 EXT1 EXT2
14 spondyloarthropathy 1 10.0
15 leukemia 10.0
16 inflammatory spondylopathy 10.0
17 spondylitis 10.0
18 neuropathy 10.0
19 aneurysm 10.0
20 bone remodeling disease 9.9 EXT1 EXT2
21 developmental dysplasia of the hip 1 9.8
22 schizophrenia 9.8
23 autism 9.8
24 leukemia, acute myeloid 9.8
25 rhabdoid tumor predisposition syndrome 1 9.8
26 lymphoblastic leukemia 9.8
27 acute cervicitis 9.8
28 hemopericardium 9.8
29 pericardial effusion 9.8
30 atypical teratoid rhabdoid tumor 9.8
31 pseudohypoparathyroidism 9.8
32 femoral neuropathy 9.8
33 pustulosis of palm and sole 9.8
34 brown-sequard syndrome 9.8
35 myeloid leukemia 9.8
36 psoriasis 9.8
37 growth hormone deficiency 9.8
38 dysphagia 9.8
39 spasticity 9.8
40 trichorhinophalangeal syndrome, type i 9.8 EXT1 EXTL1

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



Diseases related to Hereditary Multiple Exostoses

Symptoms & Phenotypes for Hereditary Multiple Exostoses

Drugs & Therapeutics for Hereditary Multiple Exostoses

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

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 3 88150-42-9 2162
2
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
3
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5362032
4
Enalaprilat Approved Phase 3 76420-72-9 6917719
5
Losartan Approved Phase 3 114798-26-4 3961
6
Vorinostat Approved, Investigational Phase 3,Phase 1 149647-78-9 5311
7
Maleic acid Experimental Phase 3 110-16-7 444266
8 Angiotensin II Type 1 Receptor Blockers Phase 3
9 Angiotensin Receptor Antagonists Phase 3
10 Angiotensin-Converting Enzyme Inhibitors Phase 3
11 Angiotensinogen Phase 3
12 Anti-Arrhythmia Agents Phase 3
13 Antihypertensive Agents Phase 3
14 calcium channel blockers Phase 3
15 Calcium, Dietary Phase 3
16 HIV Protease Inhibitors Phase 3
17
protease inhibitors Phase 3
18 Vasodilator Agents Phase 3
19 Histone Deacetylase Inhibitors Phase 3,Phase 1
20 Vaccines Phase 3,Phase 1
21
Pimecrolimus Approved, Investigational Phase 2 137071-32-0 17753757 6447131
22
Insulin Glargine Approved Phase 2 160337-95-1
23
Metformin Approved Phase 2 657-24-9 4091 14219
24
Zinc Approved, Investigational Phase 2 7440-66-6 32051 23994
25 Analgesics Phase 2
26 Analgesics, Non-Narcotic Phase 2
27 Anti-Inflammatory Agents Phase 2
28 Anti-Inflammatory Agents, Non-Steroidal Phase 2
29 Antirheumatic Agents Phase 2
30 Calcineurin Inhibitors Phase 2
31 Dermatologic Agents Phase 2
32 Immunosuppressive Agents Phase 2
33 Peripheral Nervous System Agents Phase 2
34 insulin Phase 2
35 Insulin, Globin Zinc Phase 2
36 Hypoglycemic Agents Phase 2
37 Cholinergic Antagonists Phase 2
38 MK 0873 Phase 2
39 Phosphodiesterase 4 Inhibitors Phase 2
40 Phosphodiesterase Inhibitors Phase 2
41
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
42
Azacitidine Approved, Investigational Phase 1 320-67-2 9444
43
Decitabine Approved, Investigational Phase 1 2353-33-5 451668
44 Heptavalent Pneumococcal Conjugate Vaccine Phase 1
45 Antimetabolites Phase 1
46 Antimetabolites, Antineoplastic Phase 1

Interventional clinical trials:

(show all 16)

# 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 A Study to Evaluate the Safety, Immune Response, and Efficacy of Gardasil (V501, qHPV) in Mid-Adult Women (V501-019) Completed NCT00090220 Phase 3
4 Follow-Up Study of Patients Previously Treated With Pimecrolimus Tablets for Atopic Dermatitis Completed NCT00098150 Phase 2
5 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
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 Safety and Tolerability Study for the Pneumococcal Conjugate Vaccine V114 Versus Prevnar™ (V114-001 EXT1)(COMPLETED) Completed NCT01215175 Phase 1
11 Phase 1 Study of Vorinostat and Bortezomib in Multiple Myeloma (MK-0683-015 EXT 1 (AM1)) Completed NCT00111813 Phase 1 vorinostat;bortezomib
12 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
13 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
14 Exercise in Type 1 Diabetes Mellitus Completed NCT02075567
15 Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
16 Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC Terminated NCT00473850

Search NIH Clinical Center for Hereditary Multiple Exostoses

Cochrane evidence based reviews: exostoses, multiple hereditary

Genetic Tests for Hereditary Multiple Exostoses

Genetic tests related to Hereditary Multiple Exostoses:

# Genetic test Affiliating Genes
1 Multiple Congenital Exostosis 28 EXT1

Anatomical Context for Hereditary Multiple Exostoses

MalaCards organs/tissues related to Hereditary Multiple Exostoses:

38
Spinal Cord, Bone, T Cells, B Cells, Testes, Colon, Myeloid

Publications for Hereditary Multiple Exostoses

Articles related to Hereditary Multiple Exostoses:

(show top 50) (show all 209)
# Title Authors Year
1
An Evaluation of Forearm Deformities in Hereditary Multiple Exostoses: Factors Associated With Radial Head Dislocation and Comprehensive Classification. ( 28249791 )
2017
2
Osteochondroma and Spinal Cord Compression in a Patient With Hereditary Multiple Exostoses: A Case Report. ( 28228700 )
2017
3
Daughter and mother diagnosed with hereditary multiple exostoses: A case report and a review of the literature. ( 28072741 )
2017
4
The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses. ( 29277722 )
2017
5
Hereditary multiple exostoses as a novel cause of bilateral popliteal artery aneurysms in the elderly. ( 28818770 )
2017
6
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families. ( 28922105 )
2017
7
Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments. ( 28466453 )
2017
8
The impact of hereditary multiple exostoses on quality of life, satisfaction, global health status, and pain. ( 27933382 )
2017
9
Transpedicular excision of a thoracic intraspinal osteochondroma in a patient with Hereditary Multiple Exostoses and Brown-Sequard syndrome: a case report. ( 29258931 )
2017
10
Unsuspected osteochondroma-like outgrowths in the cranial base of Hereditary Multiple Exostoses patients and modeling and treatment with a BMP antagonist in mice. ( 28445472 )
2017
11
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. ( 29126381 )
2017
12
Multidetector computed tomography in the evaluation of hereditary multiple exostoses. ( 26781144 )
2016
13
Hereditary multiple exostoses: A case-report. ( 26856925 )
2016
14
Magnetic Resonance Imaging in Symptomatic Children With Hereditary Multiple Exostoses of the Hip. ( 27137903 )
2016
15
Eccentric Training as an Adjunct to Rehabilitation Program for Hereditary Multiple Exostoses: A Case Report. ( 27042573 )
2016
16
Is hip dysplasia a common deformity in skeletally mature patients with hereditary multiple exostoses? ( 26951643 )
2016
17
Radiographic Analysis of the Pediatric Hip Patients With Hereditary Multiple Exostoses (HME). ( 27328120 )
2016
18
Bilateral sandwiched scapulae: A rare presentation of hereditary multiple exostoses. ( 28018061 )
2016
19
Unusual case of hereditary multiple exostoses presenting with compressive myelopathy. ( 27154991 )
2016
20
Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern. ( 27920806 )
2016
21
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses. ( 27616605 )
2016
22
Developmental pattern of the hip in patients with hereditary multiple exostoses. ( 25888017 )
2015
23
Joint pain in hereditary multiple exostoses. ( 25673003 )
2015
24
Cervical cord compression in pediatrics with hereditary multiple exostoses: a report of two cases and review of the literature. ( 26313505 )
2015
25
Atypical teratoid/rhabdoid tumor with hereditary multiple exostoses in an 18-year-old male: A case report. ( 26622709 )
2015
26
Hereditary Multiple Exostoses, A Tale of 50 years. ( 26519716 )
2015
27
Heparanase Stimulates Chondrogenesis and Is Up-Regulated in Human Ectopic Cartilage: A Mechanism Possibly Involved in Hereditary Multiple Exostoses. ( 25863260 )
2015
28
The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis. ( 25498973 )
2015
29
Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? ( 26239617 )
2015
30
Bilateral total hip arthroplasty in a young man with hereditary multiple exostoses. ( 25564594 )
2015
31
Hereditary multiple exostoses: an unusual cause of spinal cord compression. ( 26424540 )
2015
32
A mountain among molehills: removing an impinging large femoral neck osteochondroma in a man with hereditary multiple exostoses. ( 24408944 )
2014
33
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. ( 24496678 )
2014
34
Pre-B-cell acute lymphoblastic leukemia in a boy with hereditary multiple exostoses caused by EXT1 deletion. ( 25116165 )
2014
35
Fibular lengthening for the management of translational talus instability in hereditary multiple exostoses patients. ( 24705345 )
2014
36
[A splicing mutation of EXT1 in a Chinese pedigree with hereditary multiple exostoses]. ( 24568913 )
2014
37
Ankle pain in hereditary multiple exostoses: a case report. ( 25410013 )
2014
38
Can deformity of the knee and longitudinal growth of the leg be predicted in patients with hereditary multiple exostoses? A cross-sectional study. ( 23177660 )
2014
39
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. ( 24532482 )
2014
40
Coexistence of ankylosing spondylitis and hereditary multiple exostoses:coincidence or association. ( 24693299 )
2014
41
Giant costal chondrosarcoma in a patient with hereditary multiple exostoses. ( 25441807 )
2014
42
Hereditary multiple exostoses: anatomical distribution and burden of exostoses is dependent upon genotype and gender. ( 24413927 )
2014
43
A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses. ( 24728384 )
2014
44
Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses. ( 24297320 )
2014
45
Cervical myelopathy caused by disc herniation at the segment of existing osteochondroma in a patient with hereditary multiple exostoses. ( 25558330 )
2014
46
Multimodality imaging features of hereditary multiple exostoses. ( 24004486 )
2013
47
Forearm deformity in patients with hereditary multiple exostoses: factors associated with range of motion and radial head dislocation. ( 24005199 )
2013
48
A 5-year-old Boy with a Large Hereditary Multiple Exostoses Lump Grown into Thoracic Cavity. ( 23364238 )
2013
49
Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses. ( 23821404 )
2013
50
[Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses]. ( 23450490 )
2013

Variations for Hereditary Multiple Exostoses

ClinVar genetic disease variations for Hereditary Multiple Exostoses:

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 Exostoses

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

Pathways for Hereditary Multiple Exostoses

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 EXT1 EXT2 EXTL1 EXTL3 GALNT5 POMGNT2
2
Show member pathways
10.76 EXT1 EXT2 EXTL1 EXTL3

GO Terms for Hereditary Multiple Exostoses

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.73 EXT1 EXT2 EXTL1 EXTL3 GALNT5 POMGNT2
2 Golgi membrane GO:0000139 9.5 EXT1 EXT2 GALNT5
3 Golgi apparatus GO:0005794 9.46 EXT1 EXT2 EXTL3 GALNT5
4 endoplasmic reticulum GO:0005783 9.35 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
5 endoplasmic reticulum membrane GO:0005789 9.02 EXT1 EXT2 EXTL1 EXTL3 POMGNT2

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.43 EXT1 EXTL1
2 ossification GO:0001503 9.4 EXT1 EXT2
3 IRE1-mediated unfolded protein response GO:0036498 9.37 EXTL1 EXTL3
4 glycosaminoglycan biosynthetic process GO:0006024 9.33 EXT1 EXT2 GALNT5
5 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.32 EXT1 EXT2
6 cellular polysaccharide biosynthetic process GO:0033692 9.26 EXT1 EXT2
7 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.13 EXT1 EXT2 EXTL3
8 protein glycosylation GO:0006486 9.1 EXT1 EXT2 EXTL1 EXTL3 GALNT5 POMGNT2

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.8 EXT1 EXT2 EXTL1 EXTL3 GALNT5 POMGNT2
2 glucuronosyltransferase activity GO:0015020 9.4 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 9.26 EXT1 EXT2
6 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.13 EXT1 EXT2 EXTL1
7 transferase activity, transferring glycosyl groups GO:0016757 9.1 EXT1 EXT2 EXTL1 EXTL3 GALNT5 POMGNT2

Sources for Hereditary Multiple Exostoses

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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