MCID: HRD001
MIFTS: 45

Hereditary Multiple Exostoses

Categories: Bone diseases, Genetic diseases, Rare diseases, Metabolic diseases, Fetal 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
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 heparan sulfate biosynthesis. The drugs Amlodipine and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and t cells.

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 39)
# Related Disease Score Top Affiliating Genes
1 exostoses, multiple, type i 33.1 EXT1 EXT2
2 osteochondroma 32.6 EXT1 EXT2
3 enchondromatosis, multiple, ollier type 31.7 EXT1 EXT2
4 chondrosarcoma 30.1 EXT1 EXT2
5 hereditary multiple osteochondromas 29.6 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
6 trichorhinophalangeal syndrome, type ii 29.3 EXT1 EXTL1
7 exostosis 27.2 EXT1 EXT2 EXTL1 EXTL3 POMGNT2
8 exostoses, multiple, type ii 11.9
9 exostoses, multiple, type iii 11.2
10 cervicitis 10.4
11 dysplasia epiphysealis hemimelica 10.2 EXT1 EXT2
12 multiple enchondromatosis, maffucci type 10.2 EXT1 EXT2
13 spondyloarthropathy 1 10.0
14 leukemia 10.0
15 spondylitis 10.0
16 neuropathy 10.0
17 aneurysm 10.0
18 bone remodeling disease 9.9 EXT1 EXT2
19 developmental dysplasia of the hip 1 9.8
20 schizophrenia 9.8
21 autism 9.8
22 leukemia, acute myeloid 9.8
23 leukemia, acute lymphoblastic 9.8
24 lymphoblastic leukemia 9.8
25 acute cervicitis 9.8
26 hemopericardium 9.8
27 pericardial effusion 9.8
28 atypical teratoid rhabdoid tumor 9.8
29 rhabdoid cancer 9.8
30 pseudohypoparathyroidism 9.8
31 femoral neuropathy 9.8
32 brown-sequard syndrome 9.8
33 myeloid leukemia 9.8
34 psoriasis 9.8
35 growth hormone deficiency 9.8
36 dysphagia 9.8
37 spasticity 9.8
38 trichorhinophalangeal syndrome, type i 9.7 EXT1 EXTL1
39 bone disease 9.6 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 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 5362032 40466924
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
Insulin Glargine Approved Phase 2 160337-95-1
22
Metformin Approved Phase 2 657-24-9 14219 4091
23
Zinc Approved, Investigational Phase 2 7440-66-6 23994
24 insulin Phase 2,Not Applicable
25 Insulin, Globin Zinc Phase 2,Not Applicable
26 Hypoglycemic Agents Phase 2
27 Cholinergic Antagonists Phase 2
28 MK 0873 Phase 2
29 Phosphodiesterase 4 Inhibitors Phase 2
30 Phosphodiesterase Inhibitors Phase 2
31
Bortezomib Approved, Investigational Phase 1 179324-69-7 387447 93860
32
Azacitidine Approved, Investigational Phase 1 320-67-2 9444
33
Decitabine Approved, Investigational Phase 1 2353-33-5 451668
34 Heptavalent Pneumococcal Conjugate Vaccine Phase 1
35 Antimetabolites Phase 1
36 Antimetabolites, Antineoplastic Phase 1
37
Pimecrolimus Approved, Investigational 137071-32-0 6447131 17753757
38 Analgesics
39 Analgesics, Non-Narcotic
40 Anti-Inflammatory Agents
41 Anti-Inflammatory Agents, Non-Steroidal
42 Antirheumatic Agents
43 Calcineurin Inhibitors
44 Dermatologic Agents
45 Immunosuppressive Agents
46 Peripheral Nervous System 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 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 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 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, T Cells, B Cells, Testes, Colon, Myeloid

Publications for Hereditary Multiple Exostoses

Articles related to Hereditary Multiple Exostoses:

(show top 50) (show all 212)
# 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
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families. ( 28922105 )
2017
3
The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses. ( 29277722 )
2017
4
Transpedicular excision of a thoracic intraspinal osteochondroma in a patient with Hereditary Multiple Exostoses and Brown-Sequard syndrome: a case report. ( 29258931 )
2017
5
An Evaluation of Forearm Deformities in Hereditary Multiple Exostoses: Factors Associated With Radial Head Dislocation and Comprehensive Classification. ( 28249791 )
2017
6
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. ( 29126381 )
2017
7
Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments. ( 28466453 )
2017
8
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
9
Daughter and mother diagnosed with hereditary multiple exostoses: A case report and a review of the literature. ( 28072741 )
2017
10
Osteochondroma and Spinal Cord Compression in a Patient With Hereditary Multiple Exostoses: A Case Report. ( 28228700 )
2017
11
The impact of hereditary multiple exostoses on quality of life, satisfaction, global health status, and pain. ( 27933382 )
2017
12
Hereditary multiple exostoses as a novel cause of bilateral popliteal artery aneurysms in the elderly. ( 28818770 )
2017
13
Multidetector computed tomography in the evaluation of hereditary multiple exostoses. ( 26781144 )
2016
14
Bilateral sandwiched scapulae: A rare presentation of hereditary multiple exostoses. ( 28018061 )
2016
15
Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern. ( 27920806 )
2016
16
Radiographic Analysis of the Pediatric Hip Patients With Hereditary Multiple Exostoses (HME). ( 27328120 )
2016
17
Eccentric Training as an Adjunct to Rehabilitation Program for Hereditary Multiple Exostoses: A Case Report. ( 27042573 )
2016
18
Hereditary multiple exostoses: A case-report. ( 26856925 )
2016
19
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses. ( 27616605 )
2016
20
Magnetic Resonance Imaging in Symptomatic Children With Hereditary Multiple Exostoses of the Hip. ( 27137903 )
2016
21
Is hip dysplasia a common deformity in skeletally mature patients with hereditary multiple exostoses? ( 26951643 )
2016
22
Unusual case of hereditary multiple exostoses presenting with compressive myelopathy. ( 27154991 )
2016
23
Cervical cord compression in pediatrics with hereditary multiple exostoses: a report of two cases and review of the literature. ( 26313505 )
2015
24
Atypical teratoid/rhabdoid tumor with hereditary multiple exostoses in an 18-year-old male: A case report. ( 26622709 )
2015
25
Hereditary Multiple Exostoses, A Tale of 50 years. ( 26519716 )
2015
26
Heparanase Stimulates Chondrogenesis and Is Up-Regulated in Human Ectopic Cartilage: A Mechanism Possibly Involved in Hereditary Multiple Exostoses. ( 25863260 )
2015
27
Developmental pattern of the hip in patients with hereditary multiple exostoses. ( 25888017 )
2015
28
Joint pain in hereditary multiple exostoses. ( 25673003 )
2015
29
Hereditary multiple exostoses: an unusual cause of spinal cord compression. ( 26424540 )
2015
30
The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis. ( 25498973 )
2015
31
Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? ( 26239617 )
2015
32
Bilateral total hip arthroplasty in a young man with hereditary multiple exostoses. ( 25564594 )
2015
33
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
34
[A splicing mutation of EXT1 in a Chinese pedigree with hereditary multiple exostoses]. ( 24568913 )
2014
35
Coexistence of ankylosing spondylitis and hereditary multiple exostoses:coincidence or association. ( 24693299 )
2014
36
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. ( 24496678 )
2014
37
Pre-B-cell acute lymphoblastic leukemia in a boy with hereditary multiple exostoses caused by EXT1 deletion. ( 25116165 )
2014
38
Giant costal chondrosarcoma in a patient with hereditary multiple exostoses. ( 25441807 )
2014
39
Cervical myelopathy caused by disc herniation at the segment of existing osteochondroma in a patient with hereditary multiple exostoses. ( 25558330 )
2014
40
A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses. ( 24728384 )
2014
41
Hereditary multiple exostoses: anatomical distribution and burden of exostoses is dependent upon genotype and gender. ( 24413927 )
2014
42
Ankle pain in hereditary multiple exostoses: a case report. ( 25410013 )
2014
43
Fibular lengthening for the management of translational talus instability in hereditary multiple exostoses patients. ( 24705345 )
2014
44
A mountain among molehills: removing an impinging large femoral neck osteochondroma in a man with hereditary multiple exostoses. ( 24408944 )
2014
45
Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses. ( 24297320 )
2014
46
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. ( 24532482 )
2014
47
Forearm deformity in patients with hereditary multiple exostoses: factors associated with range of motion and radial head dislocation. ( 24005199 )
2013
48
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
49
Spontaneous pneumothoraces in hereditary multiple exostoses. ( 23471158 )
2013
50
Multimodality imaging features of hereditary multiple exostoses. ( 24004486 )
2013

Variations for Hereditary Multiple Exostoses

ClinVar genetic disease variations for Hereditary Multiple Exostoses:

6
(show top 50) (show all 71)
# 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.1019G> A (p.Arg340His) single nucleotide variant Pathogenic rs119103287 GRCh37 Chromosome 8, 118849384: 118849384
21 EXT1 NM_000127.2(EXT1): c.1019G> A (p.Arg340His) single nucleotide variant Pathogenic rs119103287 GRCh38 Chromosome 8, 117837145: 117837145
22 EXT1 NM_000127.2(EXT1): c.538_539delAG (p.Leu181Profs) deletion Pathogenic rs886039486 GRCh37 Chromosome 8, 119122747: 119122748
23 EXT1 NM_000127.2(EXT1): c.538_539delAG (p.Leu181Profs) deletion Pathogenic rs886039486 GRCh38 Chromosome 8, 118110508: 118110509
24 EXT1 NM_000127.2(EXT1): c.1418-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118832035: 118832035
25 EXT1 NM_000127.2(EXT1): c.1418-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117819796: 117819796
26 EXT1 NM_000127.2(EXT1): c.1056+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118849345: 118849345
27 EXT1 NM_000127.2(EXT1): c.1056+2T> A single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117837106: 117837106
28 EXT1 NM_000127.2(EXT1): c.598_669del72 (p.Trp200_Thr223del) deletion Pathogenic GRCh37 Chromosome 8, 119122617: 119122688
29 EXT1 NM_000127.2(EXT1): c.598_669del72 (p.Trp200_Thr223del) deletion Pathogenic GRCh38 Chromosome 8, 118110378: 118110449
30 EXT1 NM_000127.2(EXT1): c.992C> A (p.Ala331Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 8, 117837172: 117837172
31 EXT1 NM_000127.2(EXT1): c.992C> A (p.Ala331Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 118849411: 118849411
32 EXT1 NM_000127.2(EXT1): c.1633-34_1670del72 deletion Pathogenic GRCh38 Chromosome 8, 117812924: 117812995
33 EXT1 NM_000127.2(EXT1): c.1633-34_1670del72 deletion Pathogenic GRCh37 Chromosome 8, 118825163: 118825234
34 EXT1 NM_000127.2(EXT1): c.1431dup (p.Ser478Leufs) duplication Pathogenic GRCh38 Chromosome 8, 117819781: 117819781
35 EXT1 NM_000127.2(EXT1): c.1431dup (p.Ser478Leufs) duplication Pathogenic GRCh37 Chromosome 8, 118832020: 118832020
36 EXT1 NM_000127.2(EXT1): c.1401delC (p.Tyr468Thrfs) deletion Pathogenic GRCh38 Chromosome 8, 117822481: 117822481
37 EXT1 NM_000127.2(EXT1): c.1401delC (p.Tyr468Thrfs) deletion Pathogenic GRCh37 Chromosome 8, 118834720: 118834720
38 EXT1 NM_000127.2(EXT1): c.1056+3A> C single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117837105: 117837105
39 EXT1 NM_000127.2(EXT1): c.1056+3A> C single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118849344: 118849344
40 EXT1 NM_000127.2(EXT1): c.2101C> T (p.Arg701Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118812091: 118812091
41 EXT1 NM_000127.2(EXT1): c.2101C> T (p.Arg701Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117799852: 117799852
42 EXT1 NM_000127.2(EXT1): c.521delT (p.Leu174Terfs) deletion Pathogenic GRCh37 Chromosome 8, 119122765: 119122765
43 EXT1 NM_000127.2(EXT1): c.521delT (p.Leu174Terfs) deletion Pathogenic GRCh38 Chromosome 8, 118110526: 118110526
44 EXT1 NM_000127.2(EXT1): c.1036A> G (p.Arg346Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 117837128: 117837128
45 EXT1 NM_000127.2(EXT1): c.1036A> G (p.Arg346Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118849367: 118849367
46 EXT1 NM_000127.2(EXT1): c.218delA (p.Asn73Thrfs) deletion Pathogenic GRCh38 Chromosome 8, 118110829: 118110829
47 EXT1 NM_000127.2(EXT1): c.218delA (p.Asn73Thrfs) deletion Pathogenic GRCh37 Chromosome 8, 119123068: 119123068
48 EXT1 NM_000127.2(EXT1): c.2059delT (p.Ser687Leufs) deletion Pathogenic GRCh38 Chromosome 8, 117799894: 117799894
49 EXT1 NM_000127.2(EXT1): c.2059delT (p.Ser687Leufs) deletion Pathogenic GRCh37 Chromosome 8, 118812133: 118812133
50 EXT1 NM_000127.2(EXT1): c.1417+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 8, 118834702: 118834702

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
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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