MCID: HRD001
MIFTS: 48

Hereditary Multiple Exostoses

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

Aliases & Classifications for Hereditary Multiple Exostoses

MalaCards integrated aliases for Hereditary Multiple Exostoses:

Name: Hereditary Multiple Exostoses 12 73 15 17 70
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 73
Exostoses Multiple Hereditary 54
Multiple Exostosis Syndromes 12
Osteochondromatosis Syndrome 12
Multiple Ostechondromas 12

Classifications:



External Ids:

Disease Ontology 12 DOID:206
MeSH 44 D005097
NCIt 50 C5183
SNOMED-CT 67 254044004
ICD10 32 Q78.6
UMLS 70 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 osteochondroma. An important gene associated with Hereditary Multiple Exostoses is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drug Tretinoin has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and brain, and related phenotypes are cellular and craniofacial

Wikipedia : 73 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 top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple osteochondromas 33.0 POMGNT2 EXT2 EXT1
2 osteochondroma 32.8 EXT2 EXT1
3 enchondromatosis, multiple, ollier type 31.8 IHH EXT2 EXT1
4 trichorhinophalangeal syndrome 30.4 TRPS1 EXT1
5 trichorhinophalangeal syndrome, type ii 30.4 TRPS1 EXT2 EXT1
6 multiple enchondromatosis, maffucci type 30.0 IHH EXT2 EXT1
7 exostosis 29.4 POMGNT2 NDST1 IHH HSPG2 EXTL3 EXTL2
8 exostoses, multiple, type i 11.8
9 exostoses, multiple, type ii 11.7
10 exostoses, multiple, type iii 11.4
11 chondrosarcoma 10.7
12 bone disease 10.3
13 chronic pain 10.3
14 dysplasia epiphysealis hemimelica 10.3 EXT2 EXT1
15 ankylosing spondylitis 3 10.2 EXT2 EXT1
16 juxtacortical chondroma 10.2 EXT2 EXT1
17 trichorhinophalangeal syndrome, type i 10.2 TRPS1 EXT1
18 breast pericanalicular fibroadenoma 10.1 EXTL2 EXT2
19 scoliosis 10.1
20 quadriplegia 10.1
21 frozen shoulder 10.1
22 pneumothorax 10.1
23 bursitis 10.1
24 spinal stenosis 10.1
25 osteoarthritis 10.1
26 neuropathy 10.1
27 trichorhinophalangeal syndrome, type iii 10.1 TRPS1 EXT1
28 ehlers-danlos syndrome, spondylodysplastic type, 2 10.1 EXTL2 EXTL1
29 mucopolysaccharidosis, type iiic 10.1 EXTL3 EXTL2
30 temtamy preaxial brachydactyly syndrome 10.0 EXTL1 EXT1
31 metachondromatosis 10.0 IHH EXT2 EXT1
32 cornelia de lange syndrome 4 with or without midline brain defects 10.0 TRPS1 EXT1
33 achondroplasia 10.0
34 spondyloarthropathy 1 10.0
35 leri-weill dyschondrosteosis 10.0
36 fibrodysplasia ossificans progressiva 10.0
37 glioma susceptibility 1 10.0
38 keloid formation 10.0
39 multiple exostoses with spastic tetraparesis 10.0
40 osteoporosis 10.0
41 psoriasis 1 10.0
42 retinoblastoma 10.0
43 small cell cancer of the lung 10.0
44 thyroid cancer, nonmedullary, 1 10.0
45 autism 10.0
46 osteogenic sarcoma 10.0
47 ataxia and polyneuropathy, adult-onset 10.0
48 potocki-shaffer syndrome 10.0
49 leukemia, acute myeloid 10.0
50 orthostatic intolerance 10.0

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



Diseases related to Hereditary Multiple Exostoses

Symptoms & Phenotypes for Hereditary Multiple Exostoses

MGI Mouse Phenotypes related to Hereditary Multiple Exostoses:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 EXT1 EXTL2 EXTL3 HSPG2 IHH NDST1
2 craniofacial MP:0005382 9.63 EXT1 HSPG2 IHH NDST1 TCF7L2 TRPS1
3 digestive/alimentary MP:0005381 9.43 EXT1 HSPG2 IHH NDST1 TCF7L2 TRPS1
4 embryo MP:0005380 9.17 EXT1 EXT2 EXTL3 HSPG2 IHH NDST1

Drugs & Therapeutics for Hereditary Multiple Exostoses

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 444795 5538

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Study of Palovarotene in Subjects With Multiple Osteochondromas Terminated NCT03442985 Phase 2 Palovarotene 2.5 mg;Palovarotene 5.0 mg
2 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
3 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
4 Registry of Multiple Osteochondromas That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample Enrolling by invitation NCT04133285
5 Genotype-Phenotype Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
6 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:

40
Spinal Cord, Bone, Brain, Colon, Pancreas, Ovary, Myeloid

Publications for Hereditary Multiple Exostoses

Articles related to Hereditary Multiple Exostoses:

(show top 50) (show all 460)
# Title Authors PMID Year
1
Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. 54 61 6
19839753 2009
2
Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene. 61 54 6
18330718 2009
3
One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2. 6 54 61
18976157 2008
4
Evaluation of the anatomic burden of patients with hereditary multiple exostoses. 6 54 61
17589361 2007
5
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. 61 6 54
16088908 2005
6
Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan. 61 54 6
12490068 2002
7
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. 6 54 61
11391482 2001
8
Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. 61 54 6
11169766 2001
9
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. 61 54 6
11170095 2001
10
Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. 6 61 54
10679296 2000
11
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. 6 61 54
10713884 2000
12
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 6 54 61
10679937 2000
13
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. 6 54 61
10639137 2000
14
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 6 54 61
9463333 1998
15
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. 54 61 6
9521425 1998
16
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 61 6 54
9326317 1997
17
Identification of novel mutations in the human EXT1 tumor suppressor gene. 6 61 54
9150727 1997
18
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 6 61 54
8981950 1997
19
A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas. 61 6
29989442 2019
20
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. 61 6
29126381 2017
21
Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? 6 61
26239617 2015
22
Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function. 6 61
25468659 2014
23
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. 61 6
24532482 2014
24
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. 61 6
24496678 2014
25
Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume. 61 6
25541963 2014
26
Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses. 61 6
21039224 2010
27
A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree. 6 61
20025490 2010
28
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 6 54
19344451 2009
29
Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas. 6 54
18165274 2008
30
A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. 61 6
17301954 2007
31
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. 6 54
17041877 2006
32
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. 6 54
16283885 2005
33
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. 6 54
15586175 2005
34
Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis). 6 54
15253765 2004
35
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. 61 6
15221792 2004
36
Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. 54 6
12239711 2002
37
Ext-mutation analysis in Italian sporadic and hereditary osteochondromas. 6 61
11668521 2001
38
Genotype-phenotype correlation in hereditary multiple exostoses. 61 6
11432960 2001
39
The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. 61 6
9620772 1998
40
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). 6 61
7550340 1995
41
Expanding the phenome and variome of skeletal dysplasia. 6
29620724 2018
42
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas. 6
30334991 2018
43
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. 6
29529714 2018
44
Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas. 6
28690282 2017
45
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 6
26961984 2016
46
Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. 6
26690531 2015
47
Identification of a rare case of intra-articular osteochondroma manifesting as three loose bodies in a patient with hereditary multiple osteochondromas: A case report. 6
26622573 2015
48
A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma. 6
26515642 2015
49
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
50
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. 6
25230886 2014

Variations for Hereditary Multiple Exostoses

ClinVar genetic disease variations for Hereditary Multiple Exostoses:

6 (show top 50) (show all 303)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXT1 NM_000127.2(EXT1):c.1019G>T (p.Arg340Leu) SNV Pathogenic 2495 rs119103287 GRCh37: 8:118849384-118849384
GRCh38: 8:117837145-117837145
2 EXT1 NM_000127.2(EXT1):c.1016G>A (p.Gly339Asp) SNV Pathogenic 2498 rs119103288 GRCh37: 8:118849387-118849387
GRCh38: 8:117837148-117837148
3 EXT1 NM_000127.2(EXT1):c.1418-2A>G SNV Pathogenic 448898 rs1554578802 GRCh37: 8:118832035-118832035
GRCh38: 8:117819796-117819796
4 EXT1 NM_000127.2(EXT1):c.1633-34_1670del Deletion Pathogenic 456063 rs1554657940 GRCh37: 8:118825163-118825234
GRCh38: 8:117812924-117812995
5 EXT1 NM_000127.2(EXT1):c.1056+2T>A SNV Pathogenic 456059 rs1554580142 GRCh37: 8:118849345-118849345
GRCh38: 8:117837106-117837106
6 EXT1 NM_000127.2(EXT1):c.1401del (p.Tyr468fs) Deletion Pathogenic 456061 rs1554579004 GRCh37: 8:118834720-118834720
GRCh38: 8:117822481-117822481
7 EXT1 NM_000127.2(EXT1):c.1056+3A>C SNV Pathogenic 456060 rs1554580140 GRCh37: 8:118849344-118849344
GRCh38: 8:117837105-117837105
8 EXT1 NM_000127.2(EXT1):c.598_669del (p.Trp200_Thr223del) Deletion Pathogenic 456064 rs1554601502 GRCh37: 8:119122617-119122688
GRCh38: 8:118110378-118110449
9 EXT1 NM_000127.2(EXT1):c.644_647dup (p.Lys218fs) Duplication Pathogenic 526297 rs1554601507 GRCh37: 8:119122638-119122639
GRCh38: 8:118110399-118110400
10 EXT1 NM_000127.2(EXT1):c.369_370delinsT (p.Lys123fs) Indel Pathogenic 566150 rs1563659571 GRCh37: 8:119122916-119122917
GRCh38: 8:118110677-118110678
11 EXT1 NM_000127.2(EXT1):c.540_541TC[1] (p.Leu181fs) Microsatellite Pathogenic 566357 rs1563659474 GRCh37: 8:119122743-119122744
GRCh38: 8:118110504-118110505
12 EXT1 NM_000127.2(EXT1):c.1576A>T (p.Lys526Ter) SNV Pathogenic 566580 rs1563569983 GRCh37: 8:118830730-118830730
GRCh38: 8:117818491-117818491
13 EXT1 NM_000127.2(EXT1):c.1316C>G (p.Ser439Ter) SNV Pathogenic 568116 rs1563571318 GRCh37: 8:118834805-118834805
GRCh38: 8:117822566-117822566
14 EXT1 NM_000127.2(EXT1):c.282dup (p.Gly95fs) Duplication Pathogenic 568204 rs1563659649 GRCh37: 8:119123003-119123004
GRCh38: 8:118110764-118110765
15 EXT1 NM_000127.2(EXT1):c.1053_1056+1del Deletion Pathogenic 569431 rs1563575654 GRCh37: 8:118849346-118849350
GRCh38: 8:117837107-117837111
16 EXT1 NM_000127.2(EXT1):c.798del (p.Phe266fs) Deletion Pathogenic 569738 rs1563659352 GRCh37: 8:119122488-119122488
GRCh38: 8:118110249-118110249
17 EXT1 NM_000127.2(EXT1):c.1884-1G>A SNV Pathogenic 569935 rs1131691623 GRCh37: 8:118817133-118817133
GRCh38: 8:117804894-117804894
18 EXT1 NM_000127.2(EXT1):c.1065C>A (p.Cys355Ter) SNV Pathogenic 570990 rs11546829 GRCh37: 8:118847782-118847782
GRCh38: 8:117835543-117835543
19 EXT1 NM_000127.2(EXT1):c.988_989insTC (p.Asn330fs) Insertion Pathogenic 572097 rs1563575697 GRCh37: 8:118849414-118849415
GRCh38: 8:117837175-117837176
20 EXT1 NM_000127.2(EXT1):c.840G>C (p.Arg280Ser) SNV Pathogenic 576662 rs1563659325 GRCh37: 8:119122446-119122446
GRCh38: 8:118110207-118110207
21 EXT1 NM_000127.2(EXT1):c.103del (p.Ser35fs) Deletion Pathogenic 580698 rs1563659821 GRCh37: 8:119123183-119123183
GRCh38: 8:118110944-118110944
22 EXT1 NM_000127.2(EXT1):c.2004del (p.Pro669fs) Deletion Pathogenic 581676 rs1563872934 GRCh37: 8:118817012-118817012
GRCh38: 8:117804773-117804773
23 EXT1 NM_000127.2(EXT1):c.1056+1G>A SNV Pathogenic 583370 rs886039354 GRCh37: 8:118849346-118849346
GRCh38: 8:117837107-117837107
24 EXT1 NC_000008.11:g.(?_117830210)_(117837221_?)del Deletion Pathogenic 583827 GRCh37: 8:118842449-118849460
GRCh38: 8:117830210-117837221
25 EXT1 NM_000127.2(EXT1):c.957T>A (p.Tyr319Ter) SNV Pathogenic 638993 rs1586279297 GRCh37: 8:119122329-119122329
GRCh38: 8:118110090-118110090
26 EXT1 NM_000127.2(EXT1):c.1057-2A>G SNV Pathogenic 640558 rs1587003662 GRCh37: 8:118847792-118847792
GRCh38: 8:117835553-117835553
27 EXT1 NM_000127.2(EXT1):c.533_534dup (p.Gln179fs) Duplication Pathogenic 526299 rs1554601525 GRCh37: 8:119122751-119122752
GRCh38: 8:118110512-118110513
28 EXT1 NM_000127.2(EXT1):c.1417+2T>A SNV Pathogenic 526300 rs1554578992 GRCh37: 8:118834702-118834702
GRCh38: 8:117822463-117822463
29 EXT1 NM_000127.2(EXT1):c.1036A>G (p.Arg346Gly) SNV Pathogenic 526301 rs1554580147 GRCh37: 8:118849367-118849367
GRCh38: 8:117837128-117837128
30 EXT1 NM_000127.2(EXT1):c.651_663del (p.Lys218fs) Deletion Pathogenic 526303 rs1554601504 GRCh37: 8:119122623-119122635
GRCh38: 8:118110384-118110396
31 EXT1 NM_000127.2(EXT1):c.218del (p.Asn73fs) Deletion Pathogenic 526304 rs1554601568 GRCh37: 8:119123068-119123068
GRCh38: 8:118110829-118110829
32 EXT1 NM_000127.2(EXT1):c.838A>G (p.Arg280Gly) SNV Pathogenic 526305 rs1554601483 GRCh37: 8:119122448-119122448
GRCh38: 8:118110209-118110209
33 EXT1 NM_000127.2(EXT1):c.846del (p.Leu283fs) Deletion Pathogenic 526306 rs1554601481 GRCh37: 8:119122440-119122440
GRCh38: 8:118110201-118110201
34 EXT1 NM_000127.2(EXT1):c.2104C>T (p.Gln702Ter) SNV Pathogenic 526307 rs1554656266 GRCh37: 8:118812088-118812088
GRCh38: 8:117799849-117799849
35 EXT1 NM_000127.2(EXT1):c.279C>G (p.Tyr93Ter) SNV Pathogenic 526308 rs1227875610 GRCh37: 8:119123007-119123007
GRCh38: 8:118110768-118110768
36 EXT1 NM_000127.2(EXT1):c.2059del (p.Ser687fs) Deletion Pathogenic 526309 rs1554656288 GRCh37: 8:118812133-118812133
GRCh38: 8:117799894-117799894
37 EXT1 NC_000008.11:g.(?_117799692)_(117837221_?)del Deletion Pathogenic 526310 GRCh37: 8:118811931-118849460
GRCh38: 8:117799692-117837221
38 EXT1 NM_000127.2(EXT1):c.1417+1G>A SNV Pathogenic 642160 rs1586997796 GRCh37: 8:118834703-118834703
GRCh38: 8:117822464-117822464
39 EXT1 NM_000127.2(EXT1):c.642_663del (p.Met215fs) Deletion Pathogenic 642724 rs1586279544 GRCh37: 8:119122623-119122644
GRCh38: 8:118110384-118110405
40 EXT1 NM_000127.2(EXT1):c.962+1G>A SNV Pathogenic 642916 rs886039353 GRCh37: 8:119122323-119122323
GRCh38: 8:118110084-118110084
41 EXT1 NM_000127.2(EXT1):c.584T>G (p.Leu195Ter) SNV Pathogenic 644357 rs1586279621 GRCh37: 8:119122702-119122702
GRCh38: 8:118110463-118110463
42 EXT1 NM_000127.2(EXT1):c.1911C>A (p.Tyr637Ter) SNV Pathogenic 648749 rs1586989220 GRCh37: 8:118817105-118817105
GRCh38: 8:117804866-117804866
43 EXT1 NM_000127.2(EXT1):c.1236G>A (p.Trp412Ter) SNV Pathogenic 650518 rs1587001428 GRCh37: 8:118842517-118842517
GRCh38: 8:117830278-117830278
44 EXT1 NM_000127.2(EXT1):c.1057-1G>C SNV Pathogenic 653328 rs1587003661 GRCh37: 8:118847791-118847791
GRCh38: 8:117835552-117835552
45 EXT1 NM_000127.2(EXT1):c.276_277dup (p.Tyr93fs) Duplication Pathogenic 653826 rs1586279952 GRCh37: 8:119123008-119123009
GRCh38: 8:118110769-118110770
46 EXT1 NM_000127.2(EXT1):c.1537-2A>G SNV Pathogenic 657320 rs1554578710 GRCh37: 8:118830771-118830771
GRCh38: 8:117818532-117818532
47 EXT1 NM_000127.3(EXT1):c.1944del (p.Gln648fs) Deletion Pathogenic 659671 rs1586989202 GRCh37: 8:118817072-118817072
GRCh38: 8:117804833-117804833
48 EXT1 NM_000127.2(EXT1):c.642_675del (p.Met215fs) Deletion Pathogenic 659760 rs1586279535 GRCh37: 8:119122611-119122644
GRCh38: 8:118110372-118110405
49 EXT1 NM_000127.2(EXT1):c.1745G>A (p.Trp582Ter) SNV Pathogenic 659880 rs1586990402 GRCh37: 8:118819594-118819594
GRCh38: 8:117807355-117807355
50 EXT1 NM_000127.2(EXT1):c.1817G>A (p.Trp606Ter) SNV Pathogenic 662503 rs1586990317 GRCh37: 8:118819522-118819522
GRCh38: 8:117807283-117807283

Expression for Hereditary Multiple Exostoses

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

Pathways for Hereditary Multiple Exostoses

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 endoplasmic reticulum GO:0005783 9.63 POMGNT2 EXTL3 EXTL2 EXTL1 EXT2 EXT1
2 Golgi apparatus GO:0005794 9.43 NDST1 GALNT5 EXTL3 EXTL1 EXT2 EXT1
3 endoplasmic reticulum membrane GO:0005789 9.1 POMGNT2 EXTL3 EXTL2 EXTL1 EXT2 EXT1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.71 IHH EXT2 EXT1
2 protein glycosylation GO:0006486 9.7 POMGNT2 GALNT5 EXTL3 EXTL2 EXTL1 EXT2
3 skeletal system development GO:0001501 9.67 TRPS1 IHH EXTL1 EXT1
4 IRE1-mediated unfolded protein response GO:0036498 9.65 EXTL3 EXTL2 EXTL1
5 gene expression GO:0010467 9.61 EXT2 EXT1
6 positive regulation of smoothened signaling pathway GO:0045880 9.61 NDST1 IHH
7 cellular response to fibroblast growth factor stimulus GO:0044344 9.6 EXT2 EXT1
8 pancreas development GO:0031016 9.59 TCF7L2 IHH
9 vasodilation GO:0042311 9.58 EXT2 EXT1
10 glycosaminoglycan catabolic process GO:0006027 9.58 HSPG2 GPC1
11 sulfation GO:0051923 9.57 EXT2 EXT1
12 sodium ion homeostasis GO:0055078 9.56 EXT2 EXT1
13 heart contraction GO:0060047 9.55 EXT2 EXT1
14 chondrocyte proliferation GO:0035988 9.52 IHH EXT1
15 multicellular organismal water homeostasis GO:0050891 9.51 EXT2 EXT1
16 heparin biosynthetic process GO:0030210 9.5 NDST1 EXT2 EXT1
17 embryonic skeletal joint development GO:0072498 9.49 IHH EXT1
18 endochondral bone morphogenesis GO:0060350 9.46 EXT2 EXT1
19 fluid transport GO:0042044 9.43 EXT2 EXT1
20 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.43 NDST1 EXT2 EXT1
21 cellular polysaccharide biosynthetic process GO:0033692 9.4 EXT2 EXT1
22 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.35 NDST1 EXTL3 EXTL2 EXT2 EXT1
23 glycosaminoglycan biosynthetic process GO:0006024 9.1 NDST1 HSPG2 GPC1 GALNT5 EXT2 EXT1

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 10.03 POMGNT2 NDST1 GALNT5 EXTL3 EXTL2 EXTL1
2 acetylglucosaminyltransferase activity GO:0008375 9.46 POMGNT2 EXTL1 EXT2 EXT1
3 glucuronosyltransferase activity GO:0015020 9.43 EXTL1 EXT2 EXT1
4 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.4 EXT2 EXT1
5 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.37 EXT2 EXT1
6 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0001888 9.32 EXTL3 EXTL2
7 transferase activity, transferring glycosyl groups GO:0016757 9.17 POMGNT2 GALNT5 EXTL3 EXTL2 EXTL1 EXT2
8 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.13 EXTL1 EXT2 EXT1

Sources for Hereditary Multiple Exostoses

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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