MCID: HRD001
MIFTS: 46

Hereditary Multiple Exostoses malady

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hereditary Multiple Exostoses

Aliases & Descriptions for Hereditary Multiple Exostoses:

Name: Hereditary Multiple Exostoses 12 71 14 69
Multiple Congenital Exostosis 12 29
Osteochondromatosis Syndrome [ambiguous] 12
Hereditary Multiple Exostoses 1 12
Hereditary Multiple Exostoses 2 12
Hereditary Multiple Exostoses 3 12
Exostoses, Multiple Hereditary 42
Multiple Exostosis Syndromes 12
Multiple Ostechondromas 12

Classifications:



External Ids:

Disease Ontology 12 DOID:206
ICD10 33 Q78.6
MeSH 42 D005097
NCIt 47 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 hereditary multiple osteochondromas and exostoses, multiple, type 2. 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 Enalapril have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and testes.

Wikipedia : 71 Hereditary multiple exostoses (HME or MHE), also known as diaphyseal aclasis, is a rare medical... more...

Related Diseases for Hereditary Multiple Exostoses

Diseases in the Hereditary Multiple Exostoses family:

Exostoses, Multiple, Type 1 Exostoses, Multiple, Type 2
Exostoses, Multiple, Type 3

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

(show all 37)
id Related Disease Score Top Affiliating Genes
1 hereditary multiple osteochondromas 11.8
2 exostoses, multiple, type 2 11.7
3 exostoses, multiple, type 1 11.6
4 enchondromatosis, multiple, ollier type 11.0
5 hereditary multiple osteochondromatosis, type i 11.0
6 hereditary multiple osteochondromatosis, type ii 11.0
7 cervicitis 10.3
8 osteochondroma 10.3
9 chondrosarcoma 10.2
10 exostosis 10.2
11 erythroderma, lethal congenital 10.1 EXT1 EXT2
12 neuropathy, ataxia, and retinitis pigmentosa 10.1 EXT1 EXT2
13 macrosomia with microphthalmia, lethal 10.0 EXT1 EXT2
14 mental retardation, autosomal recessive 40 10.0 EXT1 EXT2
15 ovarian epithelial cancer 10.0 EXT1 EXT2
16 leukemia 9.9
17 spondylitis 9.9
18 neuropathy 9.9
19 burkitt lymphoma 9.9 EXT1 EXTL1
20 ischemic bone disease 9.9 EXT1 EXT2
21 growth hormone deficiency 9.8
22 lymphoblastic leukemia 9.8
23 acute cervicitis 9.8
24 aneurysm 9.8
25 pericardial effusion 9.8
26 dysphagia 9.8
27 spasticity 9.8
28 atypical teratoid rhabdoid tumor 9.8
29 pseudohypoparathyroidism 9.8
30 femoral neuropathy 9.8
31 myeloid leukemia 9.8
32 schizophrenia 9.8
33 psoriasis 9.8
34 trichorhinophalangeal syndrome, type ii 9.4 EXT1 EXT2 EXTL1 EXTL3 GALNT5
35 isolated gonadotropin-releasing hormone deficiency 9.3 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
36 enthesopathy 9.3 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
37 vulvar syringoma 9.1 EXT1 EXT2 EXTL1 EXTL3 GALNT5 POMGNT2

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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 3 88150-42-9 2162
2
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
3
Enalaprilat Approved Phase 3 76420-72-9 6917719
4
Losartan Approved Phase 3 114798-26-4 3961
5
Vorinostat Approved, Investigational Phase 3,Phase 1 149647-78-9 5311
6
Maleic acid Experimental Phase 3 110-16-7 444266
7
Angiotensin II Phase 3 68521-88-0, 11128-99-7 65143 172198
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 6447131 17753757
22
Insulin Glargine Approved Phase 2 160337-95-1
23
Metformin Approved Phase 2 657-24-9 14219 4091
24
Zinc Approved 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 15)
id Name Status NCT ID Phase
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
2 Suberoylanilide Hydroxamic Acid (Vorinostat, MK-0683) Versus Placebo in Advanced Malignant Pleural Mesothelioma (0683-014 AM5, EXT1) Completed NCT00128102 Phase 3
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 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
6 An Extension Study Evaluating Safety and Efficacy of Proellex® In Women Who Have Previously Completed ZPU 003 Ext Terminated NCT00958893 Phase 2
7 An Investigational Drug Study In Patients With COPD (Chronic Obstructive Pulmonary Disease) (MK-0873-005) Terminated NCT00132730 Phase 2
8 Phase 1 Study of Vorinostat and Bortezomib in Multiple Myeloma (MK-0683-015 EXT 1 (AM1)) Completed NCT00111813 Phase 1
9 Vorinostat (MK-0683) Phase I Study in Cutaneous T-Cell Lymphoma (CTCL) Patients (MK-0683-089 EXT1) Completed NCT00771472 Phase 1
10 Safety and Tolerability Study for the Pneumococcal Conjugate Vaccine V114 Versus Prevnar™ (V114-001 EXT1)(COMPLETED) Completed NCT01215175 Phase 1
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
12 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
13 Exercise in Type 1 Diabetes Mellitus Completed NCT02075567
14 Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
15 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:

id Genetic test Affiliating Genes
1 Multiple Congenital Exostosis 29

Anatomical Context for Hereditary Multiple Exostoses

MalaCards organs/tissues related to Hereditary Multiple Exostoses:

39
Bone, Spinal Cord, Testes, Myeloid, B Cells, Colon

Publications for Hereditary Multiple Exostoses

Articles related to Hereditary Multiple Exostoses:

(show top 50) (show all 200)
id Title Authors Year
1
The impact of hereditary multiple exostoses on quality of life, satisfaction, global health status, and pain. ( 27933382 )
2017
2
Daughter and mother diagnosed with hereditary multiple exostoses: A case report and a review of the literature. ( 28072741 )
2017
3
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses. ( 27616605 )
2016
4
Is hip dysplasia a common deformity in skeletally mature patients with hereditary multiple exostoses? ( 26951643 )
2016
5
Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern. ( 27920806 )
2016
6
Hereditary multiple exostoses: A case-report. ( 26856925 )
2016
7
Bilateral sandwiched scapulae: A rare presentation of hereditary multiple exostoses. ( 28018061 )
2016
8
Eccentric Training as an Adjunct to Rehabilitation Program for Hereditary Multiple Exostoses: A Case Report. ( 27042573 )
2016
9
Magnetic Resonance Imaging in Symptomatic Children With Hereditary Multiple Exostoses of the Hip. ( 27137903 )
2016
10
Unusual case of hereditary multiple exostoses presenting with compressive myelopathy. ( 27154991 )
2016
11
Radiographic Analysis of the Pediatric Hip Patients With Hereditary Multiple Exostoses (HME). ( 27328120 )
2016
12
Multidetector computed tomography in the evaluation of hereditary multiple exostoses. ( 26781144 )
2016
13
Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? ( 26239617 )
2015
14
Joint pain in hereditary multiple exostoses. ( 25673003 )
2015
15
Atypical teratoid/rhabdoid tumor with hereditary multiple exostoses in an 18-year-old male: A case report. ( 26622709 )
2015
16
Hereditary multiple exostoses: an unusual cause of spinal cord compression. ( 26424540 )
2015
17
Developmental pattern of the hip in patients with hereditary multiple exostoses. ( 25888017 )
2015
18
The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis. ( 25498973 )
2015
19
Bilateral total hip arthroplasty in a young man with hereditary multiple exostoses. ( 25564594 )
2015
20
Hereditary Multiple Exostoses, A Tale of 50 years. ( 26519716 )
2015
21
Cervical cord compression in pediatrics with hereditary multiple exostoses: a report of two cases and review of the literature. ( 26313505 )
2015
22
Heparanase Stimulates Chondrogenesis and Is Up-Regulated in Human Ectopic Cartilage: A Mechanism Possibly Involved in Hereditary Multiple Exostoses. ( 25863260 )
2015
23
Hereditary multiple exostoses: anatomical distribution and burden of exostoses is dependent upon genotype and gender. ( 24413927 )
2014
24
[A splicing mutation of EXT1 in a Chinese pedigree with hereditary multiple exostoses]. ( 24568913 )
2014
25
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. ( 24496678 )
2014
26
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
27
Cervical myelopathy caused by disc herniation at the segment of existing osteochondroma in a patient with hereditary multiple exostoses. ( 25558330 )
2014
28
Ankle pain in hereditary multiple exostoses: a case report. ( 25410013 )
2014
29
A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses. ( 24728384 )
2014
30
Fibular lengthening for the management of translational talus instability in hereditary multiple exostoses patients. ( 24705345 )
2014
31
Pre-B-cell acute lymphoblastic leukemia in a boy with hereditary multiple exostoses caused by EXT1 deletion. ( 25116165 )
2014
32
A mountain among molehills: removing an impinging large femoral neck osteochondroma in a man with hereditary multiple exostoses. ( 24408944 )
2014
33
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. ( 24532482 )
2014
34
Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses. ( 24297320 )
2014
35
Giant costal chondrosarcoma in a patient with hereditary multiple exostoses. ( 25441807 )
2014
36
Coexistence of ankylosing spondylitis and hereditary multiple exostoses:coincidence or association. ( 24693299 )
2014
37
Forearm deformity in patients with hereditary multiple exostoses: factors associated with range of motion and radial head dislocation. ( 24005199 )
2013
38
[Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses]. ( 23450490 )
2013
39
Perichondrium phenotype and border function are regulated by Ext1 and heparan sulfate in developing long bones: a mechanism likely deranged in Hereditary Multiple Exostoses. ( 23458899 )
2013
40
Spontaneous pneumothoraces in hereditary multiple exostoses. ( 23471158 )
2013
41
Secondary chondrosarcoma of the lumbar spine in hereditary multiple exostoses. ( 23849356 )
2013
42
A 5-year-old Boy with a Large Hereditary Multiple Exostoses Lump Grown into Thoracic Cavity. ( 23364238 )
2013
43
Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses. ( 23821404 )
2013
44
Glycosaminoglycans in the blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application. ( 23514715 )
2013
45
Multimodality imaging features of hereditary multiple exostoses. ( 24004486 )
2013
46
Acute popliteal pseudoaneurysm rupture secondary to distal femoral osteochondroma in a patient with hereditary multiple exostoses. ( 22507712 )
2012
47
Bilateral ischiofemoral impingement in a patient with hereditary multiple exostoses. ( 22865159 )
2012
48
Skeletal growth patterns in hereditary multiple exostoses: a natural history. ( 22139142 )
2012
49
Hereditary multiple exostoses causing cord compression. ( 23217490 )
2012
50
Health-related quality of life in people with hereditary multiple exostoses. ( 22327458 )
2012

Variations for Hereditary Multiple Exostoses

ClinVar genetic disease variations for Hereditary Multiple Exostoses:

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 NC_000008.10: g.118825108_119054752dup229645 copy number gain Pathogenic GRCh37 Chromosome 8, 118825108: 119054752

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.63 EXT1 EXT2 EXTL1 EXTL3 GALNT5 POMGNT2
2 Golgi membrane GO:0000139 9.43 EXT1 EXT2 GALNT5
3 endoplasmic reticulum GO:0005783 9.35 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
4 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:

id Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.55 EXT1 EXT2 EXTL1 GALNT5 POMGNT2
2 skeletal system development GO:0001501 9.43 EXT1 EXTL1
3 ossification GO:0001503 9.4 EXT1 EXT2
4 IRE1-mediated unfolded protein response GO:0036498 9.37 EXTL1 EXTL3
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 9.26 EXT1 EXT2 EXTL1 EXTL3
8 glycosaminoglycan biosynthetic process GO:0006024 9.02 EXT1 EXT2 EXTL1 EXTL3 GALNT5

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.85 EXT1 EXT2 EXTL1 EXTL3 GALNT5 POMGNT2
2 glucuronosyltransferase activity GO:0015020 9.4 EXT1 EXT2
3 acetylglucosaminyltransferase activity GO:0008375 9.33 EXT1 EXT2 POMGNT2
4 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.32 EXT1 EXT2
5 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 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
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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