MCID: HRD001
MIFTS: 42

Hereditary Multiple Exostoses

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

Aliases & Classifications for Hereditary Multiple Exostoses

MalaCards integrated aliases for Hereditary Multiple Exostoses:

Name: Hereditary Multiple Exostoses 12 76 15 73
Multiple Congenital Exostosis 12 29 6
Hereditary Multiple Exostoses 1 12
Hereditary Multiple Exostoses 2 12
Hereditary Multiple Exostoses 3 12
Exostoses, Multiple Hereditary 44
Multiple Hereditary Exostoses 76
Multiple Exostosis Syndromes 12
Osteochondromatosis Syndrome 12
Multiple Ostechondromas 12

Classifications:



External Ids:

Disease Ontology 12 DOID:206
ICD10 33 Q78.6
MeSH 44 D005097
NCIt 50 C5183
SNOMED-CT 68 16535008 84852005
UMLS 73 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 osteochondroma. An important gene associated with Hereditary Multiple Exostoses is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Metabolism and O-linked glycosylation. The drugs Losartan and Amlodipine have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and colon.

Wikipedia : 76 Hereditary multiple osteochondromas (HMO) also known as Hereditary multiple exostoses is a disorder... more...

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 43)
# Related Disease Score Top Affiliating Genes
1 exostoses, multiple, type i 33.0 EXT1 EXT2
2 osteochondroma 32.9 EXT1 EXT2
3 hereditary multiple osteochondromas 32.3 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
4 enchondromatosis, multiple, ollier type 31.9 EXT1 EXT2
5 chondrosarcoma 30.5 EXT1 EXT2
6 trichorhinophalangeal syndrome, type ii 29.8 EXT1 EXTL1
7 exostosis 29.6 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
8 exostoses, multiple, type ii 12.0
9 exostoses, multiple, type iii 11.4
10 spondyloarthropathy 1 10.1
11 spondylitis 10.1
12 neuropathy 10.1
13 dysplasia epiphysealis hemimelica 10.1 EXT1 EXT2
14 multiple enchondromatosis, maffucci type 10.0 EXT1 EXT2
15 bone remodeling disease 10.0 EXT1 EXT2
16 developmental dysplasia of the hip 1 10.0
17 keloid formation 10.0
18 schizophrenia 10.0
19 autism 10.0
20 osteogenic sarcoma 10.0
21 leukemia, acute myeloid 10.0
22 leukemia, acute lymphoblastic 10.0
23 leukemia 10.0
24 spinal stenosis 10.0
25 lymphocytic leukemia 10.0
26 hemopericardium 10.0
27 pericardial effusion 10.0
28 pneumothorax 10.0
29 atypical teratoid rhabdoid tumor 10.0
30 adenocarcinoma 10.0
31 astrocytoma 10.0
32 breast adenocarcinoma 10.0
33 rhabdoid cancer 10.0
34 pseudohypoparathyroidism 10.0
35 femoral neuropathy 10.0
36 cerebellar astrocytoma 10.0
37 brown-sequard syndrome 10.0
38 myeloid leukemia 10.0
39 psoriasis 10.0
40 growth hormone deficiency 10.0
41 dysphagia 10.0
42 trichorhinophalangeal syndrome, type i 9.9 EXT1 EXTL1
43 bone disease 9.9 EXT1 EXT2

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 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Losartan Approved Phase 3 114798-26-4 3961
2
Amlodipine Approved Phase 3 88150-42-9 2162
3
Angiotensin II Approved, Investigational Phase 3 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
4
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
5
Enalaprilat Approved Phase 3 76420-72-9 6917719
6
Vorinostat Approved, Investigational Phase 3,Phase 1 149647-78-9 5311
7
Maleic acid Experimental Phase 3 110-16-7 444266
8 Vasodilator Agents Phase 3
9 Antihypertensive Agents Phase 3
10 calcium channel blockers Phase 3
11 Angiotensinogen Phase 3
12 Angiotensin II Type 1 Receptor Blockers Phase 3
13 Anti-Arrhythmia Agents Phase 3
14
protease inhibitors Phase 3
15 Calcium, Dietary Phase 3
16 Angiotensin Receptor Antagonists Phase 3
17 HIV Protease Inhibitors Phase 3
18 Angiotensin-Converting Enzyme Inhibitors Phase 3
19 Histone Deacetylase Inhibitors Phase 3,Phase 1
20 Vaccines Phase 3,Phase 1
21 Immunologic Factors Phase 3,Phase 1
22
Metformin Approved Phase 2 657-24-9 14219 4091
23
Zinc Approved, Investigational Phase 2 7440-66-6
24
Insulin Glargine Approved Phase 2 160337-95-1
25
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
26 Insulin, Globin Zinc Phase 2,Not Applicable
27 insulin Phase 2,Not Applicable
28 Hypoglycemic Agents Phase 2
29 Phosphodiesterase Inhibitors Phase 2
30 MK 0873 Phase 2
31 Cholinergic Antagonists Phase 2
32 Phosphodiesterase 4 Inhibitors Phase 2
33
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
34
Azacitidine Approved, Investigational Phase 1 320-67-2 9444
35
Decitabine Approved, Investigational Phase 1 2353-33-5 451668
36 Heptavalent Pneumococcal Conjugate Vaccine Phase 1
37 Antimetabolites Phase 1
38 Antimetabolites, Antineoplastic Phase 1
39
Pimecrolimus Approved, Investigational 137071-32-0 6447131 17753757
40 Analgesics
41 Anti-Inflammatory Agents
42 Antirheumatic Agents
43 Calcineurin Inhibitors
44 Peripheral Nervous System Agents
45 Immunosuppressive Agents
46 Dermatologic Agents
47 Analgesics, Non-Narcotic
48 Anti-Inflammatory Agents, Non-Steroidal

Interventional clinical trials:

(show all 19)
# 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 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 Not Applicable
15 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
16 Follow-Up Study of Patients Previously Treated With Pimecrolimus Tablets for Atopic Dermatitis Completed NCT00098150
17 Effect of Neuromuscular Electrical Stimulation Combined With Blood Flow Restriction on Muscular and Cardiovascular Function Not yet recruiting NCT03662555 Not Applicable
18 Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
19 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 29 EXT1

Anatomical Context for Hereditary Multiple Exostoses

MalaCards organs/tissues related to Hereditary Multiple Exostoses:

41
Bone, Spinal Cord, Colon, Testes, B Cells, Myeloid

Publications for Hereditary Multiple Exostoses

Articles related to Hereditary Multiple Exostoses:

(show top 50) (show all 216)
# Title Authors Year
1
Heparan sulfate antagonism alters bone morphogenetic protein signaling and receptor dynamics, suggesting a mechanism in hereditary multiple exostoses. ( 29622677 )
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
Minimally Invasive Total Hip Arthroplasty in a Patient with Hereditary Multiple Exostoses: A Case Report. ( 30555649 )
2018
5
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families. ( 28922105 )
2017
6
The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses. ( 29277722 )
2017
7
Transpedicular excision of a thoracic intraspinal osteochondroma in a patient with Hereditary Multiple Exostoses and Brown-Sequard syndrome: a case report. ( 29258931 )
2017
8
An Evaluation of Forearm Deformities in Hereditary Multiple Exostoses: Factors Associated With Radial Head Dislocation and Comprehensive Classification. ( 28249791 )
2017
9
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. ( 29126381 )
2017
10
Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments. ( 28466453 )
2017
11
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
12
Daughter and mother diagnosed with hereditary multiple exostoses: A case report and a review of the literature. ( 28072741 )
2017
13
Osteochondroma and Spinal Cord Compression in a Patient With Hereditary Multiple Exostoses: A Case Report. ( 28228700 )
2017
14
The impact of hereditary multiple exostoses on quality of life, satisfaction, global health status, and pain. ( 27933382 )
2017
15
Hereditary multiple exostoses as a novel cause of bilateral popliteal artery aneurysms in the elderly. ( 28818770 )
2017
16
Multidetector computed tomography in the evaluation of hereditary multiple exostoses. ( 26781144 )
2016
17
Bilateral sandwiched scapulae: A rare presentation of hereditary multiple exostoses. ( 28018061 )
2016
18
Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern. ( 27920806 )
2016
19
Radiographic Analysis of the Pediatric Hip Patients With Hereditary Multiple Exostoses (HME). ( 27328120 )
2016
20
Eccentric Training as an Adjunct to Rehabilitation Program for Hereditary Multiple Exostoses: A Case Report. ( 27042573 )
2016
21
Hereditary multiple exostoses: A case-report. ( 26856925 )
2016
22
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses. ( 27616605 )
2016
23
Magnetic Resonance Imaging in Symptomatic Children With Hereditary Multiple Exostoses of the Hip. ( 27137903 )
2016
24
Is hip dysplasia a common deformity in skeletally mature patients with hereditary multiple exostoses? ( 26951643 )
2016
25
Unusual case of hereditary multiple exostoses presenting with compressive myelopathy. ( 27154991 )
2016
26
Cervical cord compression in pediatrics with hereditary multiple exostoses: a report of two cases and review of the literature. ( 26313505 )
2015
27
Atypical teratoid/rhabdoid tumor with hereditary multiple exostoses in an 18-year-old male: A case report. ( 26622709 )
2015
28
Hereditary Multiple Exostoses, A Tale of 50 years. ( 26519716 )
2015
29
Heparanase Stimulates Chondrogenesis and Is Up-Regulated in Human Ectopic Cartilage: A Mechanism Possibly Involved in Hereditary Multiple Exostoses. ( 25863260 )
2015
30
Developmental pattern of the hip in patients with hereditary multiple exostoses. ( 25888017 )
2015
31
Joint pain in hereditary multiple exostoses. ( 25673003 )
2015
32
Hereditary multiple exostoses: an unusual cause of spinal cord compression. ( 26424540 )
2015
33
The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis. ( 25498973 )
2015
34
Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? ( 26239617 )
2015
35
Bilateral total hip arthroplasty in a young man with hereditary multiple exostoses. ( 25564594 )
2015
36
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
37
[A splicing mutation of EXT1 in a Chinese pedigree with hereditary multiple exostoses]. ( 24568913 )
2014
38
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. ( 24496678 )
2014
39
Pre-B-cell acute lymphoblastic leukemia in a boy with hereditary multiple exostoses caused by EXT1 deletion. ( 25116165 )
2014
40
Giant costal chondrosarcoma in a patient with hereditary multiple exostoses. ( 25441807 )
2014
41
Cervical myelopathy caused by disc herniation at the segment of existing osteochondroma in a patient with hereditary multiple exostoses. ( 25558330 )
2014
42
A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses. ( 24728384 )
2014
43
Hereditary multiple exostoses: anatomical distribution and burden of exostoses is dependent upon genotype and gender. ( 24413927 )
2014
44
Ankle pain in hereditary multiple exostoses: a case report. ( 25410013 )
2014
45
Fibular lengthening for the management of translational talus instability in hereditary multiple exostoses patients. ( 24705345 )
2014
46
A mountain among molehills: removing an impinging large femoral neck osteochondroma in a man with hereditary multiple exostoses. ( 24408944 )
2014
47
Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses. ( 24297320 )
2014
48
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. ( 24532482 )
2014
49
Forearm deformity in patients with hereditary multiple exostoses: factors associated with range of motion and radial head dislocation. ( 24005199 )
2013
50
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

Variations for Hereditary Multiple Exostoses

ClinVar genetic disease variations for Hereditary Multiple Exostoses:

6 (show top 50) (show all 111)
# 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.1019G> T (p.Arg340Leu) single nucleotide variant Pathogenic rs119103287 GRCh38 Chromosome 8, 117837145: 117837145
6 EXT1 NM_000127.2(EXT1): c.1016G> A (p.Gly339Asp) single nucleotide variant Pathogenic rs119103288 GRCh37 Chromosome 8, 118849387: 118849387
7 EXT1 NM_000127.2(EXT1): c.1016G> A (p.Gly339Asp) single nucleotide variant Pathogenic rs119103288 GRCh38 Chromosome 8, 117837148: 117837148
8 EXT1 NM_000127.2(EXT1): c.357C> A (p.Tyr119Ter) single nucleotide variant Pathogenic rs119103289 GRCh37 Chromosome 8, 119122929: 119122929
9 EXT1 NM_000127.2(EXT1): c.357C> A (p.Tyr119Ter) single nucleotide variant Pathogenic rs119103289 GRCh38 Chromosome 8, 118110690: 118110690
10 EXT1 NM_000127.2(EXT1): c.1018C> T (p.Arg340Cys) single nucleotide variant Pathogenic rs119103290 GRCh37 Chromosome 8, 118849385: 118849385
11 EXT1 NM_000127.2(EXT1): c.1018C> T (p.Arg340Cys) single nucleotide variant Pathogenic rs119103290 GRCh38 Chromosome 8, 117837146: 117837146
12 EXT1 EXT1, IVS1DS, G-C single nucleotide variant Pathogenic
13 EXT1 EXT1, 1-BP INS, 1664A insertion Pathogenic
14 EXT1 EXT1, IVS1DS, 4-BP DEL deletion Pathogenic
15 EXT1 GRCh37/hg19 8q24.11(chr8: 118825108-119054752)x3 copy number gain Pathogenic GRCh37 Chromosome 8, 118825108: 119054752
16 EXT1 NM_000127.2(EXT1): c.117A> G (p.Glu39=) single nucleotide variant Benign rs78429222 GRCh37 Chromosome 8, 119123169: 119123169
17 EXT1 NM_000127.2(EXT1): c.117A> G (p.Glu39=) single nucleotide variant Benign rs78429222 GRCh38 Chromosome 8, 118110930: 118110930
18 EXT1 NM_000127.2(EXT1): c.114A> G (p.Glu38=) single nucleotide variant Benign/Likely benign rs17506447 GRCh37 Chromosome 8, 119123172: 119123172
19 EXT1 NM_000127.2(EXT1): c.114A> G (p.Glu38=) single nucleotide variant Benign/Likely benign rs17506447 GRCh38 Chromosome 8, 118110933: 118110933
20 EXT1 NM_000127.2(EXT1): c.1469delT (p.Leu490Argfs) deletion Pathogenic rs886039356 GRCh37 Chromosome 8, 118831982: 118831982
21 EXT1 NM_000127.2(EXT1): c.1469delT (p.Leu490Argfs) deletion Pathogenic rs886039356 GRCh38 Chromosome 8, 117819743: 117819743
22 EXT1 NM_000127.2(EXT1): c.1019G> A (p.Arg340His) single nucleotide variant Pathogenic rs119103287 GRCh37 Chromosome 8, 118849384: 118849384
23 EXT1 NM_000127.2(EXT1): c.1019G> A (p.Arg340His) single nucleotide variant Pathogenic rs119103287 GRCh38 Chromosome 8, 117837145: 117837145
24 EXT1 NM_000127.2(EXT1): c.538_539delAG (p.Leu181Profs) deletion Pathogenic rs886039486 GRCh37 Chromosome 8, 119122747: 119122748
25 EXT1 NM_000127.2(EXT1): c.538_539delAG (p.Leu181Profs) deletion Pathogenic rs886039486 GRCh38 Chromosome 8, 118110508: 118110509
26 EXT1 NM_000127.2(EXT1): c.1468dupC (p.Leu490Profs) duplication Pathogenic rs886041198 GRCh37 Chromosome 8, 118831983: 118831983
27 EXT1 NM_000127.2(EXT1): c.1468dupC (p.Leu490Profs) duplication Pathogenic rs886041198 GRCh38 Chromosome 8, 117819744: 117819744
28 EXT1 NM_000127.2(EXT1): c.854dupA (p.His285Glnfs) duplication Pathogenic GRCh37 Chromosome 8, 119122432: 119122432
29 EXT1 NM_000127.2(EXT1): c.854dupA (p.His285Glnfs) duplication Pathogenic GRCh38 Chromosome 8, 118110193: 118110193
30 EXT1 NM_000127.2(EXT1): c.1418-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118832035: 118832035
31 EXT1 NM_000127.2(EXT1): c.1418-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117819796: 117819796
32 EXT1 NM_000127.2(EXT1): c.1056+2T> A single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117837106: 117837106
33 EXT1 NM_000127.2(EXT1): c.1056+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118849345: 118849345
34 EXT1 NM_000127.2(EXT1): c.598_669del72 (p.Trp200_Thr223del) deletion Pathogenic GRCh38 Chromosome 8, 118110378: 118110449
35 EXT1 NM_000127.2(EXT1): c.598_669del72 (p.Trp200_Thr223del) deletion Pathogenic GRCh37 Chromosome 8, 119122617: 119122688
36 EXT1 NM_000127.2(EXT1): c.992C> A (p.Ala331Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 117837172: 117837172
37 EXT1 NM_000127.2(EXT1): c.992C> A (p.Ala331Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 118849411: 118849411
38 EXT1 NM_000127.2(EXT1): c.1633-34_1670del72 deletion Pathogenic GRCh38 Chromosome 8, 117812924: 117812995
39 EXT1 NM_000127.2(EXT1): c.1633-34_1670del72 deletion Pathogenic GRCh37 Chromosome 8, 118825163: 118825234
40 EXT1 NM_000127.2(EXT1): c.1431dup (p.Ser478Leufs) duplication Pathogenic GRCh38 Chromosome 8, 117819781: 117819781
41 EXT1 NM_000127.2(EXT1): c.1431dup (p.Ser478Leufs) duplication Pathogenic GRCh37 Chromosome 8, 118832020: 118832020
42 EXT1 NM_000127.2(EXT1): c.1401delC (p.Tyr468Thrfs) deletion Pathogenic GRCh38 Chromosome 8, 117822481: 117822481
43 EXT1 NM_000127.2(EXT1): c.1401delC (p.Tyr468Thrfs) deletion Pathogenic GRCh37 Chromosome 8, 118834720: 118834720
44 EXT1 NM_000127.2(EXT1): c.1056+3A> C single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118849344: 118849344
45 EXT1 NM_000127.2(EXT1): c.1056+3A> C single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117837105: 117837105
46 EXT1 NM_000127.2(EXT1): c.2101C> T (p.Arg701Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118812091: 118812091
47 EXT1 NM_000127.2(EXT1): c.2101C> T (p.Arg701Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117799852: 117799852
48 EXT1 NM_000127.2(EXT1): c.1810G> T (p.Glu604Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118819529: 118819529
49 EXT1 NM_000127.2(EXT1): c.1810G> T (p.Glu604Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117807290: 117807290
50 EXT1 NM_000127.2(EXT1): c.521delT (p.Leu174Terfs) deletion Pathogenic GRCh37 Chromosome 8, 119122765: 119122765

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
13.07 EXT1 EXT2 EXTL1 EXTL3 GALNT5 POMGNT2
2
Show member pathways
11.42 GALNT5 POMGNT2
3
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
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
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55 Novoseek
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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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