MCID: HRD001
MIFTS: 46

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 74 15 17 71
Multiple Congenital Exostosis 12 29 6
Hereditary Multiple Exostoses 1 12
Hereditary Multiple Exostoses 2 12
Hereditary Multiple Exostoses 3 12
Exostoses, Multiple Hereditary 43
Multiple Hereditary Exostoses 74
Exostoses Multiple Hereditary 54
Multiple Exostosis Syndromes 12
Osteochondromatosis Syndrome 12
Multiple Ostechondromas 12

Classifications:



External Ids:

Disease Ontology 12 DOID:206
MeSH 43 D005097
NCIt 49 C5183
SNOMED-CT 67 16535008 84852005
ICD10 32 Q78.6
UMLS 71 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 heparan sulfate biosynthesis. The drugs Tretinoin and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and testes, and related phenotypes are digestive/alimentary and respiratory system

Wikipedia : 74 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 101)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple osteochondromas 33.9 POMGNT2 EXT2 EXT1
2 osteochondroma 33.6 EXT2 EXT1
3 enchondromatosis, multiple, ollier type 32.4 IHH EXT2 EXT1
4 trichorhinophalangeal syndrome 30.4 TRPS1 EXT1
5 trichorhinophalangeal syndrome, type ii 30.3 TRPS1 EXT2 EXT1
6 multiple enchondromatosis, maffucci type 29.9 IHH EXT2 EXT1
7 exostosis 27.7 POMGNT2 MMP12 IHH HSPG2 FAM20B EXTL3
8 exostoses, multiple, type i 12.4
9 exostoses, multiple, type ii 12.4
10 exostoses, multiple, type iii 11.9
11 chondrosarcoma 10.7
12 bone disease 10.3
13 dysplasia epiphysealis hemimelica 10.3 EXT2 EXT1
14 chronic pain 10.3
15 juxtacortical chondroma 10.2 EXT2 EXT1
16 breast pericanalicular fibroadenoma 10.2 EXTL2 EXT2
17 trichorhinophalangeal syndrome, type i 10.2 TRPS1 EXT1
18 spondyloarthropathy 1 10.1
19 scoliosis 10.1
20 inflammatory spondylopathy 10.1
21 quadriplegia 10.1
22 frozen shoulder 10.1
23 pneumothorax 10.1
24 bursitis 10.1
25 spondylitis 10.1
26 spinal stenosis 10.1
27 osteoarthritis 10.1
28 neuropathy 10.1
29 aneurysm 10.1
30 trichorhinophalangeal syndrome, type iii 10.1 TRPS1 EXT1
31 ehlers-danlos syndrome progeroid type 10.0 EXTL2 EXTL1
32 temtamy preaxial brachydactyly syndrome 10.0 EXTL1 EXT1
33 colorectal cancer 10.0
34 leri-weill dyschondrosteosis 10.0
35 fibrodysplasia ossificans progressiva 10.0
36 keloid formation 10.0
37 multiple exostoses with spastic tetraparesis 10.0
38 psoriasis 1 10.0
39 retinoblastoma 10.0
40 schizophrenia 10.0
41 small cell cancer of the lung 10.0
42 thyroid cancer, nonmedullary, 1 10.0
43 autism 10.0
44 osteogenic sarcoma 10.0
45 ataxia and polyneuropathy, adult-onset 10.0
46 potocki-shaffer syndrome 10.0
47 stroke, ischemic 10.0
48 leukemia, acute myeloid 10.0
49 orthostatic intolerance 10.0
50 rhabdoid tumor predisposition syndrome 1 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.63 EXT1 FAM20B HSPG2 IHH TCF7L2 TRPS1
2 respiratory system MP:0005388 9.43 FAM20B HSPG2 IHH MMP12 TCF7L2 TRPS1
3 skeleton MP:0005390 9.17 EXT1 EXT2 FAM20B HSPG2 IHH TCF7L2

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 5538 444795
2 Dermatologic Agents Phase 2
3 Keratolytic Agents Phase 2

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 Active, not recruiting 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

Anatomical Context for Hereditary Multiple Exostoses

MalaCards organs/tissues related to Hereditary Multiple Exostoses:

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

Publications for Hereditary Multiple Exostoses

Articles related to Hereditary Multiple Exostoses:

(show top 50) (show all 415)
# Title Authors PMID Year
1
Biosynthesis of heparan sulfate in EXT1-deficient cells. 54 61
20377530 2010
2
[The EXT2 gene mutation in a family with hereditary multiple exostoses]. 61 54
20140877 2010
3
Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. 54 61
19839753 2009
4
[A new EXT2 mutation in a Chinese family with hereditary multiple exostoses]. 61 54
19504431 2009
5
Of brain and bone: the unusual case of Dr. A. 61 54
20183548 2009
6
Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene. 61 54
18330718 2009
7
Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin. 54 61
19309273 2009
8
One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2. 61 54
18976157 2008
9
A novel mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses. 61 54
18666861 2008
10
Heparan sulphate biosynthesis and disease. 54 61
18367479 2008
11
Novel mutation in the EXT-1 gene in an Iranian family affected with hereditary multiple exostoses. 54 61
18810975 2008
12
[EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses]. 61 54
18067075 2007
13
Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation. 54 61
17761672 2007
14
Evaluation of the anatomic burden of patients with hereditary multiple exostoses. 61 54
17589361 2007
15
[Novel mutation of Y271H in EXT1 gene causes multiple exostoses]. 54 61
17767039 2007
16
[Denaturant gradient gel electrophoresis in the genetic diagnosis of hereditary multiple exostoses]. 54 61
17478946 2007
17
Expression of rib-1, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes, is indispensable for heparan sulfate synthesis and embryonic morphogenesis. 54 61
17237233 2007
18
A novel mutation in the EXT2 gene identified in two unrelated Chinese families with hereditary multiple exostoses. 54 61
18294062 2007
19
Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses. 61 54
16638657 2006
20
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. 61 54
16088908 2005
21
[Hereditary multiple exostoses. Molecular genetic analysis of the EXT1 gene in an unusual family]. 61 54
15739063 2005
22
Distinct tissue-specificity of three zebrafish ext1 genes encoding proteoglycan modifying enzymes and their relationship to somitic Sonic hedgehog signaling. 61 54
15614771 2005
23
Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells. 61 54
15385438 2004
24
Abrogation of heparan sulfate synthesis in Drosophila disrupts the Wingless, Hedgehog and Decapentaplegic signaling pathways. 61 54
15056609 2004
25
[A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses]. 61 54
15079787 2004
26
In vitro heparan sulfate polymerization: crucial roles of core protein moieties of primer substrates in addition to the EXT1-EXT2 interaction. 61 54
12907685 2003
27
Hereditary multiple exostoses and heparan sulfate polymerization. 54 61
12417417 2002
28
Demonstration of a novel gene DEXT3 of Drosophila melanogaster as the essential N-acetylglucosamine transferase in the heparan sulfate biosynthesis: chain initiation and elongation. 61 54
11832488 2002
29
Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan. 54 61
12490068 2002
30
[From gene to disease; hereditary multiple exostoses]. 61 54
11845565 2002
31
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. 61 54
11391482 2001
32
A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis. 54 61
11461073 2001
33
Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis. 54 61
11390981 2001
34
rib-2, a Caenorhabditis elegans homolog of the human tumor suppressor EXT genes encodes a novel alpha1,4-N-acetylglucosaminyltransferase involved in the biosynthetic initiation and elongation of heparan sulfate. 54 61
11121397 2001
35
Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. 61 54
11169766 2001
36
A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses. 61 54
11180615 2001
37
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. 54 61
11170095 2001
38
EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses. 54 61
10934647 2000
39
An R223P mutation in EXT2 gene causes hereditary multiple exostoses. 61 54
10738008 2000
40
Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations. 61 54
10750558 2000
41
Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. 54 61
10679296 2000
42
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. 61 54
10713884 2000
43
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. 54 61
10639137 2000
44
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 54 61
10679937 2000
45
Loss of heterozygosity and DNA ploidy point to a diverging genetic mechanism in the origin of peripheral and central chondrosarcoma. 61 54
10502322 1999
46
EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. 54 61
10441575 1999
47
The neoplastic pathogenesis of solitary and multiple osteochondromas. 61 54
10398153 1999
48
Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses. 61 54
10429361 1999
49
Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene. 54 61
9703997 1998
50
Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas. 61 54
9576285 1998

Variations for Hereditary Multiple Exostoses

ClinVar genetic disease variations for Hereditary Multiple Exostoses:

6 (show top 50) (show all 90) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EXT1 EXT1, 1-BP DEL, 2120Tdeletion Pathogenic 2492
2 EXT1 EXT1, 1-BP DEL, 1364Cdeletion Pathogenic 2493
3 EXT1 EXT1, 4-BP INS, NT1035insertion Pathogenic 2494
4 EXT1 NM_000127.2(EXT1):c.1019G>T (p.Arg340Leu)SNV Pathogenic 2495 rs119103287 8:118849384-118849384 8:117837145-117837145
5 EXT1 NM_000127.2(EXT1):c.357C>A (p.Tyr119Ter)SNV Pathogenic 2499 rs119103289 8:119122929-119122929 8:118110690-118110690
6 EXT1 NM_000127.2(EXT1):c.1018C>T (p.Arg340Cys)SNV Pathogenic 2500 rs119103290 8:118849385-118849385 8:117837146-117837146
7 EXT1 NM_000127.2(EXT1):c.962+1G>CSNV Pathogenic 2501 8:119122323-119122323 8:118110084-118110084
8 EXT1 NM_000127.2(EXT1):c.1664dup (p.Asn555fs)duplication Pathogenic 2502 8:118825168-118825169 8:117812929-117812930
9 EXT1 NM_000127.2(EXT1):c.962+3_962+6delshort repeat Pathogenic 2503 8:119122318-119122321 8:118110079-118110082
10 EXT1 GRCh37/hg19 8q24.11(chr8:118825108-119054752)x3copy number gain Pathogenic 225137 8:118825108-119054752
11 EXT1 NM_000127.2(EXT1):c.1469del (p.Leu490fs)deletion Pathogenic 265131 rs886039356 8:118831982-118831982 8:117819743-117819743
12 EXT1 NM_000127.2(EXT1):c.1468del (p.Leu490fs)deletion Pathogenic 265130 rs886039355 8:118831983-118831983 8:117819744-117819744
13 EXT1 NM_000127.2(EXT1):c.1019G>A (p.Arg340His)SNV Pathogenic 265129 rs119103287 8:118849384-118849384 8:117837145-117837145
14 EXT1 NM_000127.2(EXT1):c.536_537AG[1] (p.Leu181fs)short repeat Pathogenic 265339 rs886039486 8:119122747-119122748 8:118110508-118110509
15 EXT1 NM_000127.2(EXT1):c.1468dup (p.Leu490fs)duplication Pathogenic 279804 rs886039355 8:118831983-118831983 8:117819744-117819744
16 EXT1 NM_000127.2(EXT1):c.852T>A (p.Tyr284Ter)SNV Pathogenic 379472 rs1057520608 8:119122434-119122434 8:118110195-118110195
17 EXT1 NM_000127.2(EXT1):c.854dup (p.His285fs)duplication Pathogenic 423050 rs1554601476 8:119122432-119122432 8:118110193-118110193
18 EXT1 NM_000127.2(EXT1):c.1418-2A>GSNV Pathogenic 448898 rs1554578802 8:118832035-118832035 8:117819796-117819796
19 EXT1 NM_000127.2(EXT1):c.1633-34_1670deldeletion Pathogenic 456063 rs1554657940 8:118825163-118825234 8:117812924-117812995
20 EXT1 NM_000127.2(EXT1):c.1056+3A>CSNV Pathogenic 456060 rs1554580140 8:118849344-118849344 8:117837105-117837105
21 EXT1 NM_000127.2(EXT1):c.1431dup (p.Ser478fs)duplication Pathogenic 456062 rs1554578798 8:118832020-118832020 8:117819781-117819781
22 EXT1 NM_000127.2(EXT1):c.1401del (p.Tyr468fs)deletion Pathogenic 456061 rs1554579004 8:118834720-118834720 8:117822481-117822481
23 EXT1 NM_000127.2(EXT1):c.2101C>T (p.Arg701Ter)SNV Pathogenic 488691 rs1363815113 8:118812091-118812091 8:117799852-117799852
24 EXT1 NM_000127.2(EXT1):c.1810G>T (p.Glu604Ter)SNV Pathogenic 488827 rs1554657437 8:118819529-118819529 8:117807290-117807290
25 EXT1 NM_000127.2(EXT1):c.521del (p.Asn173_Leu174insTer)deletion Pathogenic 495063 rs1554601526 8:119122765-119122765 8:118110526-118110526
26 EXT1 NM_000127.2(EXT1):c.1036A>G (p.Arg346Gly)SNV Pathogenic 526301 rs1554580147 8:118849367-118849367 8:117837128-117837128
27 EXT1 NM_000127.2(EXT1):c.218del (p.Asn73fs)deletion Pathogenic 526304 rs1554601568 8:119123068-119123068 8:118110829-118110829
28 EXT1 NM_000127.2(EXT1):c.2059del (p.Ser687fs)deletion Pathogenic 526309 rs1554656288 8:118812133-118812133 8:117799894-117799894
29 EXT1 NM_000127.2(EXT1):c.1417+2T>ASNV Pathogenic 526300 rs1554578992 8:118834702-118834702 8:117822463-117822463
30 EXT1 NM_000127.2(EXT1):c.838A>G (p.Arg280Gly)SNV Pathogenic 526305 rs1554601483 8:119122448-119122448 8:118110209-118110209
31 EXT1 NM_000127.2(EXT1):c.533_534dup (p.Gln179fs)duplication Pathogenic 526299 rs1554601525 8:119122752-119122753 8:118110513-118110514
32 EXT1 NC_000008.10:g.(?_118811931)_(118849460_?)deldeletion Pathogenic 526310 8:118811931-118849460 8:117799692-117837221
33 EXT1 NM_000127.2(EXT1):c.963-2A>GSNV Pathogenic 526302 rs1554580162 8:118849442-118849442 8:117837203-117837203
34 EXT1 NM_000127.2(EXT1):c.846del (p.Leu283fs)deletion Pathogenic 526306 rs1554601481 8:119122440-119122440 8:118110201-118110201
35 EXT1 NM_000127.2(EXT1):c.651_663del (p.Lys218fs)deletion Pathogenic 526303 rs1554601504 8:119122623-119122635 8:118110384-118110396
36 EXT1 NM_000127.2(EXT1):c.644_647dup (p.Lys218fs)duplication Pathogenic 526297 rs1554601507 8:119122639-119122642 8:118110400-118110403
37 EXT1 NM_000127.2(EXT1):c.279C>G (p.Tyr93Ter)SNV Pathogenic 526308 rs1227875610 8:119123007-119123007 8:118110768-118110768
38 EXT1 NM_000127.2(EXT1):c.988_989insTC (p.Asn330fs)insertion Pathogenic 572097 rs1563575697 8:118849414-118849415 8:117837175-117837176
39 EXT1 NM_000127.2(EXT1):c.840G>C (p.Arg280Ser)SNV Pathogenic 576662 rs1563659325 8:119122446-119122446 8:118110207-118110207
40 EXT1 NM_000127.2(EXT1):c.798del (p.Phe266fs)deletion Pathogenic 569738 rs1563659352 8:119122488-119122488 8:118110249-118110249
41 EXT1 NM_000127.2(EXT1):c.540_541TC[1] (p.Leu181fs)short repeat Pathogenic 566357 rs1563659474 8:119122743-119122744 8:118110504-118110505
42 EXT1 NM_000127.2(EXT1):c.369_370delinsT (p.Lys123fs)indel Pathogenic 566150 rs1563659571 8:119122916-119122917 8:118110677-118110678
43 EXT1 NM_000127.2(EXT1):c.282dup (p.Gly95fs)duplication Pathogenic 568204 rs1563659649 8:119123004-119123004 8:118110765-118110765
44 EXT1 NM_000127.2(EXT1):c.2004del (p.Pro669fs)deletion Pathogenic 581676 rs1563872934 8:118817012-118817012 8:117804773-117804773
45 EXT1 NM_000127.2(EXT1):c.1053_1056+1deldeletion Pathogenic 569431 rs1563575654 8:118849346-118849350 8:117837107-117837111
46 EXT1 NM_000127.2(EXT1):c.1884-1G>ASNV Pathogenic 569935 8:118817133-118817133 8:117804894-117804894
47 EXT1 NM_000127.2(EXT1):c.1576A>T (p.Lys526Ter)SNV Pathogenic 566580 rs1563569983 8:118830730-118830730 8:117818491-117818491
48 EXT1 NM_000127.2(EXT1):c.1065C>A (p.Cys355Ter)SNV Pathogenic 570990 8:118847782-118847782 8:117835543-117835543
49 EXT1 NM_000127.2(EXT1):c.1056+1G>ASNV Pathogenic 583370 8:118849346-118849346 8:117837107-117837107
50 EXT1 NC_000008.10:g.(?_118842449)_(118849460_?)deldeletion Pathogenic 583827 8:118842449-118849460 8:117830210-117837221

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
13.26 TRAP1 POMGNT2 HSPG2 GALNT5 EXTL3 EXTL2
2
Show member pathways
10.85 EXTL3 EXTL2 EXTL1 EXT2 EXT1

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 GALNT5 FAM20B 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:

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.63 IHH EXT2 EXT1
2 skeletal system development GO:0001501 9.62 TRPS1 IHH EXTL1 EXT1
3 IRE1-mediated unfolded protein response GO:0036498 9.58 EXTL3 EXTL2 EXTL1
4 pancreas development GO:0031016 9.48 TCF7L2 IHH
5 glycosaminoglycan biosynthetic process GO:0006024 9.46 HSPG2 GALNT5 EXT2 EXT1
6 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.43 EXT2 EXT1
7 embryonic skeletal joint development GO:0072498 9.37 IHH EXT1
8 cellular polysaccharide biosynthetic process GO:0033692 9.26 EXT2 EXT1
9 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.26 EXTL3 EXTL2 EXT2 EXT1
10 protein glycosylation GO:0006486 9.17 POMGNT2 GALNT5 EXTL3 EXTL2 EXTL1 EXT2

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.16 TRPS1 MMP12 IHH HSPG2 GALNT5 FAM20B
2 transferase activity GO:0016740 10.01 POMGNT2 GALNT5 FAM20B EXTL3 EXTL2 EXTL1
3 glucuronosyltransferase activity GO:0015020 9.54 EXTL1 EXT2 EXT1
4 acetylglucosaminyltransferase activity GO:0008375 9.46 POMGNT2 EXTL1 EXT2 EXT1
5 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.43 EXT2 EXT1
6 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.32 EXT2 EXT1
7 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0001888 9.26 EXTL3 EXTL2
8 transferase activity, transferring glycosyl groups GO:0016757 9.17 POMGNT2 GALNT5 EXTL3 EXTL2 EXTL1 EXT2
9 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....