EXT2
MCID: EXS020
MIFTS: 38

Exostoses, Multiple, Type Ii (EXT2)

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

Aliases & Classifications for Exostoses, Multiple, Type Ii

MalaCards integrated aliases for Exostoses, Multiple, Type Ii:

Name: Exostoses, Multiple, Type Ii 57
Exostoses, Multiple, Type 2 57 75 53 13 40
Multiple Exostoses Type 2 29 6
Ext2 57 74
Hereditary Multiple Exostoses 2 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
more severe in males than in females
onset early childhood
lesions continue to grow until epiphyseal plate closure


HPO:

32
exostoses, multiple, type ii:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 57 133701
MedGen 42 C1851413

Summaries for Exostoses, Multiple, Type Ii

UniProtKB/Swiss-Prot : 74 Hereditary multiple exostoses 2: EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event.

MalaCards based summary : Exostoses, Multiple, Type Ii, also known as exostoses, multiple, type 2, is related to hereditary multiple exostoses and potocki-shaffer syndrome. An important gene associated with Exostoses, Multiple, Type Ii is EXT2 (Exostosin Glycosyltransferase 2). The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and liver, and related phenotypes are short stature and genu valgum

OMIM : 57 Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones. For a general phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see EXT1 (133700). (133701)

Wikipedia : 75 Hereditary multiple osteochondromas (HMO) also known as Hereditary multiple exostoses is a disorder... more...

Related Diseases for Exostoses, Multiple, Type Ii

Graphical network of the top 20 diseases related to Exostoses, Multiple, Type Ii:



Diseases related to Exostoses, Multiple, Type Ii

Symptoms & Phenotypes for Exostoses, Multiple, Type Ii

Human phenotypes related to Exostoses, Multiple, Type Ii:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 short stature 32 frequent (33%) HP:0004322
2 genu valgum 32 HP:0002857
3 chondrosarcoma 32 HP:0006765
4 coxa vara 32 HP:0002812
5 short metacarpal 32 HP:0010049
6 rib exostoses 32 HP:0000896
7 peripheral nerve compression 32 HP:0003406
8 pelvic bone exostoses 32 HP:0003276
9 scapular exostoses 32 HP:0000918
10 cervical myelopathy 32 HP:0002318
11 madelung-like forearm deformities 32 HP:0003068
12 protuberances at ends of long bones 32 HP:0003105

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
genu valgum
short metacarpal
madelung-like forearm deformities
protuberances at ends of long bones
exostoses in juxtaepiphyseal regions of the long bones

Chest Ribs Sternum Clavicles And Scapulae:
rib exostoses
scapular exostoses

Growth Height:
short stature in less than 50%

Skeletal Pelvis:
coxa vara
pelvic exostoses

Neurologic Peripheral Nervous System:
peripheral nerve compression
cervical myelopathy

Neoplasia:
increased risk of chondrosarcoma

Clinical features from OMIM:

133701

Drugs & Therapeutics for Exostoses, Multiple, Type Ii

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 3
2 Immunologic Factors Phase 3
3 Phosphodiesterase Inhibitors Phase 2
4 Cholinergic Antagonists Phase 2
5 MK 0873 Phase 2
6 Phosphodiesterase 4 Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Investigational Vaccine in Reducing the Incidence of Anogenital Warts in Young Men Completed NCT00090285 Phase 3
2 Safety, Immunogenicity, and Efficacy of Gardasil (V501 (Human Papilloma Virus [Types 6, 11, 16, 18] Recombinant Vaccine) in Mid-Adult Women - The FUTURE III (Females United to Unilaterally Reduce Endo/Ectocervical Cancer) Study Completed NCT00090220 Phase 3
3 A Phase III Clinical Trial to Study the Immunogenicity, Tolerability, and Manufacturing Consistency of V503 (A Multivalent Human Papillomavirus [HPV] L1 Virus-Like Particle [VLP] Vaccine) in Preadolescents and Adolescents (9 to 15 Year Olds) With a Comparison to Young Women (16 to 26 Year Olds) Active, not recruiting NCT00943722 Phase 3
4 A Double-Blind, Randomized, Placebo-Controlled, Multicenter, Parallel-Group, Dose-Ranging Study of MK-0873 in Patients With COPD 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

Search NIH Clinical Center for Exostoses, Multiple, Type Ii

Genetic Tests for Exostoses, Multiple, Type Ii

Genetic tests related to Exostoses, Multiple, Type Ii:

# Genetic test Affiliating Genes
1 Multiple Exostoses Type 2 29 EXT2

Anatomical Context for Exostoses, Multiple, Type Ii

MalaCards organs/tissues related to Exostoses, Multiple, Type Ii:

41
Bone, Brain, Liver, Prostate, Testes, Pancreas, Kidney

Publications for Exostoses, Multiple, Type Ii

Articles related to Exostoses, Multiple, Type Ii:

(show top 50) (show all 313)
# Title Authors PMID Year
1
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 38 8 71
19344451 2009
2
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 38 8 71
10679937 2000
3
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 38 8 71
9326317 1997
4
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. 38 8 71
8782816 1996
5
Genotype-phenotype correlation in hereditary multiple exostoses. 38 8
11432960 2001
6
Hereditary Multiple Osteochondromas 38 71
20301413 2000
7
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 38 8
9463333 1998
8
Positional cloning of a gene involved in hereditary multiple exostoses. 38 8
8894688 1996
9
Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). 38 8
8882796 1996
10
Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. 38 8
7668264 1995
11
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. 38 8
7726168 1995
12
The genotype-phenotype correlation of hereditary multiple exostoses. 8
16879194 2006
13
Hereditary multiple exostoses: confirmation of linkage to chromosomes 8 and 11. 8
8882395 1996
14
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). 8
8558565 1995
15
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. 8
8162019 1994
16
Genetic heterogeneity in families with hereditary multiple exostoses. 8
8317501 1993
17
[Identification of pathogenic variations in two Chinese pedigrees affected with hereditary multiple exostosis]. 38
31400121 2019
18
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants. 38
30806661 2019
19
A family with limb girdle muscular dystrophy type 1B and multiple exostoses. 38
31296281 2019
20
Exostosin 1/Exostosin 2-Associated Membranous Nephropathy. 38
31061139 2019
21
Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series. 38
31096510 2019
22
[Analysis of EXT1 and EXT2 gene mutations in two Chinese pedigrees affected with hereditary multiple exostosis]. 38
31030431 2019
23
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum. 38
30730578 2019
24
A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas. 38
29989442 2019
25
Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants. 38
30997052 2019
26
A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2). 38
30075207 2019
27
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. 38
30632316 2019
28
A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses. 38
30664192 2019
29
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. 38
30487643 2019
30
Biological background of the genomic variations of cf-DNA in healthy individuals. 38
30475948 2019
31
Establishment of a Nomogram by Integrating Molecular Markers and Tumor-Node-Metastasis Staging System for Predicting the Prognosis of Hepatocellular Carcinoma. 38
30481744 2019
32
Abnormal sodium and water homeostasis in mice with defective heparan sulfate polymerization. 38
31365577 2019
33
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype. 38
30288735 2019
34
Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas. 38
30544937 2018
35
The role of EXT1 gene mutation and its high expression of calcitonin gene-related peptide in the development of multiple exostosis. 38
30262140 2018
36
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas. 38
30334991 2018
37
The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses. 38
29277722 2018
38
A novel EXT2 frameshift mutation identified in a family with multiple osteochondromas. 38
30250583 2018
39
Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family. 38
30105120 2018
40
The exostosin family of glycosyltransferases: mRNA expression profiles and heparan sulphate structure in human breast carcinoma cell lines. 38
30054430 2018
41
Specific glycosaminoglycan chain length and sulfation patterns are required for cell uptake of tau versus α-synuclein and β-amyloid aggregates. 38
29752409 2018
42
Signaling systems affecting the severity of multiple osteochondromas. 38
29545125 2018
43
A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers. 38
29485212 2018
44
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. 38
29529714 2018
45
Palovarotene Inhibits Osteochondroma Formation in a Mouse Model of Multiple Hereditary Exostoses. 38
29120519 2018
46
Exostosin-like 2 regulates FGF2 signaling by controlling the endocytosis of FGF2. 38
29305908 2018
47
Novel exostosin-2 mutation identified in a Chinese family with hereditary multiple osteochondroma. 38
29541207 2018
48
[Identification of a novel EXT1 mutation in a pedigree affected with hereditary multiple exostosis]. 38
29419870 2018
49
4D-QSAR Study of Some Pyrazole Pyridine Carboxylic Acid Derivatives By Electron Conformational-Genetic Algorithm Method. 38
29756584 2018
50
Pharmacophore Modelling and 4D-QSAR Study of Ruthenium(II) Arene Complexes as Anticancer Agents (Inhibitors) by Electron Conformational- Genetic Algorithm Method. 38
28554315 2018

Variations for Exostoses, Multiple, Type Ii

ClinVar genetic disease variations for Exostoses, Multiple, Type Ii:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EXT2 NM_000401.3(EXT2): c.344dup (p.Asp115fs) duplication Pathogenic rs1555002460 11:44129507-44129507 11:44107957-44107957
2 EXT2 NC_000011.9: g.(?_44228323)_(44228529_?)del deletion Pathogenic 11:44228323-44228529 11:44206773-44206979
3 EXT2 deletion Pathogenic
4 EXT2 NM_000401.3(EXT2): c.343del (p.Asp115fs) deletion Pathogenic rs1555002457 11:44129506-44129506 11:44107956-44107956
5 EXT2 NM_000401.3(EXT2): c.528C> A (p.Tyr176Ter) single nucleotide variant Pathogenic rs1555002543 11:44129691-44129691 11:44108141-44108141
6 EXT2 NC_000011.9: g.(?_44165777)_(44219588_?)del deletion Pathogenic 11:44165777-44219588 11:44144227-44198038
7 EXT2 NM_000401.3(EXT2): c.1173G> A (p.Trp391Ter) single nucleotide variant Pathogenic rs1450980907 11:44148500-44148500 11:44126950-44126950
8 EXT2 NM_000401.3(EXT2): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic rs754533434 11:44129329-44129329 11:44107779-44107779
9 EXT2 NM_000401.3(EXT2): c.1231C> T (p.Gln411Ter) single nucleotide variant Pathogenic rs1555006433 11:44151647-44151647 11:44130097-44130097
10 EXT2 NM_000401.3(EXT2): c.1027C> T (p.Gln343Ter) single nucleotide variant Pathogenic rs1555005398 11:44146523-44146523 11:44124973-44124973
11 EXT2 NM_000401.3(EXT2): c.549_552CTGT[1] (p.Val187fs) short repeat Pathogenic rs864309636 11:44129716-44129719 11:44108166-44108169
12 EXT2 NM_000401.3(EXT2): c.613C> T (p.Gln205Ter) single nucleotide variant Pathogenic rs121918279 11:44129776-44129776 11:44108226-44108226
13 EXT2 NM_000401.3(EXT2): c.1404+1G> A single nucleotide variant Pathogenic rs864309637 11:44193293-44193293 11:44171743-44171743
14 EXT2 NM_000401.3(EXT2): c.778G> A (p.Asp260Asn) single nucleotide variant Pathogenic rs121918280 11:44135787-44135787 11:44114237-44114237
15 EXT2 NM_000401.3(EXT2): c.765C> G (p.Tyr255Ter) single nucleotide variant Pathogenic rs121918281 11:44135774-44135774 11:44114224-44114224
16 EXT2 NM_000401.3(EXT2): c.871C> T (p.Gln291Ter) single nucleotide variant Pathogenic rs267606786 11:44146367-44146367 11:44124817-44124817
17 EXT2 NM_000401.3(EXT2): c.843-2A> C single nucleotide variant Pathogenic rs864309638 11:44146337-44146337 11:44124787-44124787
18 EXT2 NM_000401.3(EXT2): c.643C> T (p.Arg215Ter) single nucleotide variant Pathogenic rs886039358 11:44130751-44130751 11:44109201-44109201
19 EXT2 NM_000401.3(EXT2): c.1036C> T (p.Gln346Ter) single nucleotide variant Pathogenic rs763718818 11:44146532-44146532 11:44124982-44124982
20 EXT2 NM_000401.3(EXT2): c.497_500dup (p.Met168fs) duplication Pathogenic rs886041272 11:44129660-44129663 11:44108110-44108113
21 EXT2 NM_000401.3(EXT2): c.1005_1006dup (p.His336fs) duplication Pathogenic rs886041199 11:44146501-44146502 11:44124951-44124952
22 EXT2 NC_000011.9: g.(?_44129213)_(44151708_?)del deletion Pathogenic 11:44129213-44151708 11:44107663-44130158
23 EXT2 NM_000401.3(EXT2): c.459_460CT[1] (p.Ser154fs) short repeat Pathogenic 11:44129624-44129625 11:44108074-44108075
24 EXT2 NM_000401.3(EXT2): c.1272+2T> A single nucleotide variant Pathogenic 11:44151690-44151690 11:44130140-44130140
25 EXT2 NC_000011.9: g.(?_44228343)_(44228509_?)del deletion Pathogenic 11:44228343-44228509 11:44206793-44206959
26 EXT2 NM_000401.3(EXT2): c.769C> T (p.Gln257Ter) single nucleotide variant Pathogenic 11:44135778-44135778 11:44114228-44114228
27 EXT2 NM_000401.3(EXT2): c.1178+1G> A single nucleotide variant Pathogenic 11:44148506-44148506 11:44126956-44126956
28 EXT2 NM_000401.3(EXT2): c.1839G> A (p.Trp613Ter) single nucleotide variant Pathogenic 11:44253980-44253980 11:44232430-44232430
29 EXT2 NM_000401.3(EXT2): c.1131del (p.Ile377fs) deletion Pathogenic 11:44148458-44148458 11:44126908-44126908
30 EXT2 NM_000401.3(EXT2): c.1286G> A (p.Trp429Ter) single nucleotide variant Pathogenic 11:44193174-44193174 11:44171624-44171624
31 EXT2 NM_207122.1(EXT2): c.861_1173+5287del deletion Pathogenic
32 EXT2 NM_000401.3(EXT2): c.767G> C (p.Arg256Pro) single nucleotide variant Pathogenic 11:44135776-44135776 11:44114226-44114226
33 EXT2 NM_000401.3(EXT2): c.689del (p.Pro230fs) deletion Pathogenic 11:44130797-44130797 11:44109247-44109247
34 EXT2 NM_000401.3(EXT2): c.1051_1052TG[2] (p.Val352fs) short repeat Pathogenic 11:44148378-44148379 11:44126828-44126829
35 EXT2 NM_000401.3(EXT2): c.1726dup (p.Met576fs) duplication Pathogenic 11:44228474-44228474 11:44206924-44206924
36 EXT2 NM_000401.3(EXT2): c.1288dup (p.Glu430fs) duplication Pathogenic 11:44193176-44193176 11:44171626-44171626
37 EXT2 NM_000401.3(EXT2): c.337del (p.Arg113fs) deletion Likely pathogenic 11:44129500-44129500 11:44107950-44107950
38 EXT2 NM_000401.3(EXT2): c.1492C> T (p.Arg498Ter) single nucleotide variant Conflicting interpretations of pathogenicity 11:44219466-44219466 11:44197916-44197916
39 EXT2 NM_000401.3(EXT2): c.1277G> A (p.Arg426Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138187791 11:44193165-44193165 11:44171615-44171615
40 EXT2 NM_000401.3(EXT2): c.1186G> A (p.Val396Met) single nucleotide variant Conflicting interpretations of pathogenicity rs138943091 11:44151602-44151602 11:44130052-44130052
41 EXT2 NM_000401.3(EXT2): c.1744C> T (p.Leu582=) single nucleotide variant Conflicting interpretations of pathogenicity rs142565472 11:44228492-44228492 11:44206942-44206942
42 EXT2 NM_000401.3(EXT2): c.2015C> T (p.Thr672Met) single nucleotide variant Uncertain significance rs138722406 11:44255774-44255774 11:44234224-44234224
43 EXT2 NM_000401.3(EXT2): c.1121C> T (p.Pro374Leu) single nucleotide variant Uncertain significance rs141035971 11:44148448-44148448 11:44126898-44126898
44 EXT2 NM_000401.3(EXT2): c.652_657del (p.Asn218_His219del) deletion Uncertain significance rs761364688 11:44130760-44130765 11:44109210-44109215
45 EXT2 NM_000401.3(EXT2): c.1663C> T (p.Arg555Cys) single nucleotide variant Uncertain significance rs145507609 11:44228411-44228411 11:44206861-44206861
46 EXT2 NM_000401.3(EXT2): c.670A> G (p.Met224Val) single nucleotide variant Uncertain significance 11:44130778-44130778 11:44109228-44109228
47 EXT2 NM_000401.3(EXT2): c.755C> T (p.Thr252Met) single nucleotide variant Uncertain significance 11:44135764-44135764 11:44114214-44114214
48 EXT2 NM_000401.3(EXT2): c.507C> T (p.Ala169=) single nucleotide variant Likely benign rs777178095 11:44129670-44129670 11:44108120-44108120
49 EXT2 NM_000401.3(EXT2): c.1860G> A (p.Thr620=) single nucleotide variant Benign/Likely benign rs16937864 11:44254001-44254001 11:44232451-44232451
50 EXT2 NM_000401.3(EXT2): c.1116T> C (p.Cys372=) single nucleotide variant Benign/Likely benign rs11828047 11:44148443-44148443 11:44126893-44126893

UniProtKB/Swiss-Prot genetic disease variations for Exostoses, Multiple, Type Ii:

74
# Symbol AA change Variation ID SNP ID
1 EXT2 p.Asp227Asn VAR_002378 rs121918280
2 EXT2 p.Cys85Arg VAR_012823
3 EXT2 p.Leu152Arg VAR_012824
4 EXT2 p.Arg179Ser VAR_012825
5 EXT2 p.Ala202Val VAR_012826 rs771803942
6 EXT2 p.Arg223Pro VAR_012827 rs764379119
7 EXT2 p.Ile380Thr VAR_012828

Expression for Exostoses, Multiple, Type Ii

Search GEO for disease gene expression data for Exostoses, Multiple, Type Ii.

Pathways for Exostoses, Multiple, Type Ii

GO Terms for Exostoses, Multiple, Type Ii

Sources for Exostoses, Multiple, Type Ii

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