EXT2
MCID: EXS020
MIFTS: 39

Exostoses, Multiple, Type Ii (EXT2)

Categories: Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases
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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 19 75 28 12 5 38
Ext2 57 73 75
Hereditary Multiple Exostoses 2 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
more severe in males than in females
onset early childhood
lesions continue to grow until epiphyseal plate closure


Classifications:



External Ids:

OMIM® 57 133701
MedGen 40 C1851413

Summaries for Exostoses, Multiple, Type Ii

GARD: 19 The disorder hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas (benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones). Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%).

MalaCards based summary: Exostoses, Multiple, Type Ii, also known as exostoses, multiple, type 2, is related to hereditary multiple exostoses and exostoses, multiple, type i. An important gene associated with Exostoses, Multiple, Type Ii is EXT2 (Exostosin Glycosyltransferase 2). Affiliated tissues include bone, breast and prostate, and related phenotypes are multiple exostoses and chondrosarcoma

UniProtKB/Swiss-Prot: 73 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.

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) (Updated 08-Dec-2022)

Wikipedia 75 Ext2: Exostosin glycosyltransferase-2 is a protein that in humans is encoded by the EXT2... more...

Exostoses, multiple, type 2: Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder... more...

Related Diseases for Exostoses, Multiple, Type Ii

Diseases in the Hereditary Multiple Exostoses family:

Exostoses, Multiple, Type I Exostoses, Multiple, Type Ii
Exostoses, Multiple, Type Iii

Diseases related to Exostoses, Multiple, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple exostoses 11.4
2 exostoses, multiple, type i 11.4
3 hereditary multiple osteochondromas 11.3
4 potocki-shaffer syndrome 11.3
5 osteochondroma 11.3
6 exostosis 11.2
7 bone disease 11.2
8 chondrosarcoma 11.2
9 microcephaly 11.1
10 seizures, scoliosis, and macrocephaly/microcephaly syndrome 11.1
11 scoliosis 11.0
12 type 2 diabetes mellitus 11.0
13 spondyloepiphyseal dysplasia with congenital joint dislocations 11.0
14 dysostosis 11.0
15 craniosynostosis 11.0
16 enchondromatosis, multiple, ollier type 10.9
17 metachondromatosis 10.9
18 parietal foramina 10.9
19 coloboma of optic nerve 10.8
20 trichorhinophalangeal syndrome, type ii 10.8
21 larsen syndrome 10.8
22 optic nerve hypoplasia, bilateral 10.8
23 charcot-marie-tooth disease, x-linked recessive, 2 10.8
24 charcot-marie-tooth disease, x-linked recessive, 3 10.8
25 multiple enchondromatosis, maffucci type 10.8
26 ankylosing spondylitis 3 10.8
27 bone sarcoma 10.8
28 osteochondrodysplasia 10.8
29 juxtacortical chondroma 10.8
30 chondroma 10.8
31 breast pericanalicular fibroadenoma 10.8
32 periosteal chondrosarcoma 10.8
33 juxtacortical chondrosarcoma 10.8
34 clear cell chondrosarcoma 10.8
35 periosteal osteogenic sarcoma 10.8
36 hepatoblastoma 10.8
37 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
38 exostoses, multiple, type iii 10.3
39 hypotonia 10.1
40 visual epilepsy 10.0
41 diabetes mellitus 10.0
42 oto-palatal-digital syndrome 10.0
43 hypertelorism 9.9
44 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.9
45 ceroid lipofuscinosis, neuronal, 5 9.9
46 ataxia with vitamin e deficiency 9.9
47 developmental and epileptic encephalopathy 36 9.9
48 acute insulin response 9.9
49 brachydactyly 9.9
50 epilepsy 9.9

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:

30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple exostoses 30 Very rare (1%) HP:0002762
2 chondrosarcoma 30 Very rare (1%) HP:0006765
3 genu valgum 30 HP:0002857
4 coxa vara 30 HP:0002812
5 short metacarpal 30 HP:0010049
6 rib exostoses 30 HP:0000896
7 peripheral nerve compression 30 HP:0003406
8 cervical myelopathy 30 HP:0002318
9 scapular exostoses 30 HP:0000918
10 madelung-like forearm deformities 30 HP:0003068
11 protuberances at ends of long bones 30 HP:0003105
12 pelvic bone exostoses 30 HP:0003276

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

Drugs & Therapeutics for Exostoses, Multiple, Type Ii

Search Clinical Trials, 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 Exostoses, Multiple, Type 2 28 EXT2

Anatomical Context for Exostoses, Multiple, Type Ii

Organs/tissues related to Exostoses, Multiple, Type Ii:

MalaCards : Bone, Breast, Prostate, Endothelial, Brain, Lung, Ovary

Publications for Exostoses, Multiple, Type Ii

Articles related to Exostoses, Multiple, Type Ii:

(show top 50) (show all 390)
# Title Authors PMID Year
1
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants. 62 57 5
30806661 2019
2
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 62 57 5
19344451 2009
3
Genotype-phenotype correlation in hereditary multiple exostoses. 62 57 5
11432960 2001
4
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 62 57 5
10679937 2000
5
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 62 57 5
9463333 1998
6
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 62 57 5
9326317 1997
7
Positional cloning of a gene involved in hereditary multiple exostoses. 62 57 5
8894688 1996
8
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. 62 57 5
8782816 1996
9
[Analysis of EXT1 and EXT2 gene mutations in two Chinese pedigrees affected with hereditary multiple exostosis]. 62 5
31030431 2019
10
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype. 62 5
30288735 2019
11
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. 62 5
29126381 2017
12
Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas. 62 5
28849184 2017
13
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 62 5
26961984 2016
14
Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas. 62 5
25744876 2015
15
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. 62 5
25230886 2014
16
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. 62 5
24496678 2014
17
A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses. 62 5
24728384 2014
18
Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas. 62 5
23629877 2013
19
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. 62 5
23262345 2013
20
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. 62 5
23439489 2013
21
Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. 62 5
22258776 2011
22
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 62 5
19810120 2009
23
Evaluation of the anatomic burden of patients with hereditary multiple exostoses. 62 5
17589361 2007
24
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. 62 5
17041877 2006
25
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. 62 5
16283885 2005
26
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. 62 5
15586175 2005
27
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. 62 5
15221792 2004
28
Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. 62 5
11169766 2001
29
Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations. 62 5
10750558 2000
30
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. 62 5
10713884 2000
31
Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). 62 57
8882796 1996
32
Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. 62 57
7668264 1995
33
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. 62 57
7726168 1995
34
Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma. 5
25591329 2015
35
Hereditary multiple exostoses with spine involvement in a 4-year-old boy. 5
20425833 2010
36
The genotype-phenotype correlation of hereditary multiple exostoses. 57
16879194 2006
37
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
38
Hereditary multiple exostoses: confirmation of linkage to chromosomes 8 and 11. 57
8882395 1996
39
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). 57
8558565 1995
40
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. 57
8162019 1994
41
Genetic heterogeneity in families with hereditary multiple exostoses. 57
8317501 1993
42
An improved Fuzzy based GWO algorithm for predicting the potential host receptor of COVID-19 infection. 62
36334362 2022
43
Clinicopathologic features of non-lupus membranous nephropathy in a pediatric population. 62
35333973 2022
44
Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients. 62
36360300 2022
45
Structure of the human heparan sulfate polymerase complex EXT1-EXT2. 62
36402845 2022
46
A frameshift variant in the EXT1 gene in a feline leukemia virus-negative cat with osteochondromatosis. 62
35719100 2022
47
Osteochondroma formation is independent of heparanase expression as revealed in a mouse model of hereditary multiple exostoses. 62
34996123 2022
48
Adherence of Candida albicans and Malassezia Species to Skin Cells Induces Changes in the Expression of Genes Responsible for Heparan and Chondroitin Sulfate Chain Synthesis. 62
35331724 2022
49
Novel Pathogenic Variant (c.1171A>T) in PHF21A in a Female with Intellectual Disability and Craniofacial Anomalies. 62
36158052 2022
50
A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients. 62
35806987 2022

Variations for Exostoses, Multiple, Type Ii

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

5 (show top 50) (show all 428)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXT2 NM_207122.2(EXT2):c.1305+1G>A SNV Pathogenic
2473 rs864309637 GRCh37: 11:44193293-44193293
GRCh38: 11:44171743-44171743
2 EXT2 NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter) SNV Pathogenic
2475 rs121918281 GRCh37: 11:44135774-44135774
GRCh38: 11:44114224-44114224
3 EXT2 NM_207122.2(EXT2):c.772C>T (p.Gln258Ter) SNV Pathogenic
2476 rs267606786 GRCh37: 11:44146367-44146367
GRCh38: 11:44124817-44124817
4 EXT2 NC_000011.10:g.(?_44206773)_(44206979_?)del DEL Pathogenic
465696 GRCh37: 11:44228323-44228529
GRCh38: 11:44206773-44206979
5 EXT2 NC_000011.10:g.(?_44107663)_(44130158_?)del DEL Pathogenic
583463 GRCh37: 11:44129213-44151708
GRCh38: 11:44107663-44130158
6 EXT2 NM_207122.2(EXT2):c.211del (p.Leu71fs) DEL Pathogenic
853306 rs1954081372 GRCh37: 11:44129473-44129473
GRCh38: 11:44107923-44107923
7 EXT2 NC_000011.10:g.(?_44107663)_(44108268_?)del DEL Pathogenic
830793 GRCh37: 11:44129213-44129818
GRCh38:
8 EXT2 NC_000011.10:g.(?_44096233)_(44130158_?)del DEL Pathogenic
832079 GRCh37: 11:44117783-44151708
GRCh38:
9 EXT2 NM_207122.2(EXT2):c.426C>G (p.Tyr142Ter) SNV Pathogenic
834059 rs569199683 GRCh37: 11:44129688-44129688
GRCh38: 11:44108138-44108138
10 EXT2 NM_207122.2(EXT2):c.1179del (p.Trp394fs) DEL Pathogenic
982763 rs1955074882 GRCh37: 11:44193165-44193165
GRCh38: 11:44171615-44171615
11 EXT2 NM_207122.2(EXT2):c.863A>G (p.Asn288Ser) SNV Pathogenic
983551 rs745738318 GRCh37: 11:44146458-44146458
GRCh38: 11:44124908-44124908
12 EXT2 NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu) SNV Pathogenic
983552 rs1954415964 GRCh37: 11:44148478-44148478
GRCh38: 11:44126928-44126928
13 EXT2 NM_207122.2(EXT2):c.1079+1G>C SNV Pathogenic
992631 rs1369420640 GRCh37: 11:44148506-44148506
GRCh38: 11:44126956-44126956
14 EXT2 NM_207122.2(EXT2):c.782_783del (p.Leu261fs) MICROSAT Pathogenic
917883 rs1954374127 GRCh37: 11:44146375-44146376
GRCh38: 11:44124825-44124826
15 EXT2 NC_000011.9:g.(?_44146456)_44156975del DEL Pathogenic
1070872 GRCh37:
GRCh38:
16 EXT2 NM_207122.2(EXT2):c.728del (p.Pro243fs) DEL Pathogenic
1251963 GRCh37: 11:44135835-44135835
GRCh38: 11:44114285-44114285
17 EXT2 NM_207122.2(EXT2):c.1080-1G>A SNV Pathogenic
1378644 GRCh37: 11:44151594-44151594
GRCh38: 11:44130044-44130044
18 EXT2 NM_207122.2(EXT2):c.398_402del (p.Leu133fs) DEL Pathogenic
1386232 GRCh37: 11:44129659-44129663
GRCh38: 11:44108109-44108113
19 EXT2 NM_207122.2(EXT2):c.537-4_561del DEL Pathogenic
1392678 GRCh37: 11:44130738-44130766
GRCh38: 11:44109188-44109216
20 EXT2 NM_207122.2(EXT2):c.729del (p.Glu244fs) DEL Pathogenic
1382216 GRCh37: 11:44135837-44135837
GRCh38: 11:44114287-44114287
21 EXT2 NM_207122.2(EXT2):c.705_706del (p.Leu236fs) DEL Pathogenic
1407563 GRCh37: 11:44135812-44135813
GRCh38: 11:44114262-44114263
22 EXT2 NM_207122.2(EXT2):c.1824T>A (p.Tyr608Ter) SNV Pathogenic
1414023 GRCh37: 11:44255682-44255682
GRCh38: 11:44234132-44234132
23 EXT2 NM_207122.2(EXT2):c.779del (p.Gly260fs) DEL Pathogenic
1409142 GRCh37: 11:44146372-44146372
GRCh38: 11:44124822-44124822
24 EXT2 NM_207122.2(EXT2):c.89del (p.Phe30fs) DEL Pathogenic
1454141 GRCh37: 11:44129350-44129350
GRCh38: 11:44107800-44107800
25 EXT2 NM_207122.2(EXT2):c.1013del (p.Gly338fs) DEL Pathogenic
1417949 GRCh37: 11:44148438-44148438
GRCh38: 11:44126888-44126888
26 EXT2 NM_207122.2(EXT2):c.1003_1004insA (p.Leu335fs) INSERT Pathogenic
1432441 GRCh37: 11:44148429-44148430
GRCh38: 11:44126879-44126880
27 EXT2 NM_207122.2(EXT2):c.750del (p.Gln251fs) DEL Pathogenic
1427412 GRCh37: 11:44146344-44146344
GRCh38: 11:44124794-44124794
28 EXT2 NM_207122.2(EXT2):c.620_626+158del DEL Pathogenic
1405824 GRCh37: 11:44130827-44130991
GRCh38: 11:44109277-44109441
29 EXT2 NM_207122.2(EXT2):c.1286G>A (p.Trp429Ter) SNV Pathogenic
1457793 GRCh37: 11:44193273-44193273
GRCh38: 11:44171723-44171723
30 EXT2 NC_000011.9:g.(?_44129235)_(44151698_?)del DEL Pathogenic
1459798 GRCh37: 11:44129235-44151698
GRCh38:
31 EXT2 NM_207122.2(EXT2):c.244dup (p.Asp82fs) DUP Pathogenic
1457792 GRCh37: 11:44129500-44129501
GRCh38: 11:44107950-44107951
32 EXT2 NM_207122.2(EXT2):c.939+1del DEL Pathogenic
1451350 GRCh37: 11:44146534-44146534
GRCh38: 11:44124984-44124984
33 EXT2 NM_207122.2(EXT2):c.744-2A>C SNV Pathogenic
2477 rs864309638 GRCh37: 11:44146337-44146337
GRCh38: 11:44124787-44124787
34 EXT2 NM_207122.2(EXT2):c.398_401dup (p.Met135fs) DUP Pathogenic
279944 rs886041272 GRCh37: 11:44129659-44129660
GRCh38: 11:44108109-44108110
35 EXT2 NM_207122.2(EXT2):c.394G>T (p.Glu132Ter) SNV Pathogenic
838385 rs1954086080 GRCh37: 11:44129656-44129656
GRCh38: 11:44108106-44108106
36 EXT2 NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter) SNV Pathogenic
848100 rs1319747883 GRCh37: 11:44135807-44135807
GRCh38: 11:44114257-44114257
37 EXT2 NM_207122.2(EXT2):c.602_603del (p.Thr201fs) MICROSAT Pathogenic
853100 rs1954107890 GRCh37: 11:44130806-44130807
GRCh38: 11:44109256-44109257
38 EXT2 NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter) SNV Pathogenic
940247 rs767802942 GRCh37: 11:44129583-44129583
GRCh38: 11:44108033-44108033
39 EXT2 NM_207122.2(EXT2):c.743+1G>A SNV Pathogenic
265474 rs886039567 GRCh37: 11:44135852-44135852
GRCh38: 11:44114302-44114302
40 EXT2 NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer) INDEL Pathogenic
944624 rs1954079044 GRCh37: 11:44129391-44129392
GRCh38: 11:44107841-44107842
41 EXT2 NM_207122.2(EXT2):c.1024del (p.Val342fs) DEL Pathogenic
945848 rs1954415156 GRCh37: 11:44148449-44148449
GRCh38: 11:44126899-44126899
42 EXT2 NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs) DEL Pathogenic
949813 rs1954470017 GRCh37: 11:44151639-44151640
GRCh38: 11:44130089-44130090
43 EXT2 NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter) SNV Pathogenic
950526 rs1954470670 GRCh37: 11:44151659-44151659
GRCh38: 11:44130109-44130109
44 EXT2 NM_207122.2(EXT2):c.482del (p.Asn161fs) DEL Pathogenic
951628 rs1590548336 GRCh37: 11:44129743-44129743
GRCh38: 11:44108193-44108193
45 EXT2 NM_207122.2(EXT2):c.952_964del (p.Cys318fs) DEL Pathogenic
963513 rs1954411719 GRCh37: 11:44148375-44148387
GRCh38: 11:44126825-44126837
46 EXT2 NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter) DUP Pathogenic
1076808 GRCh37: 11:44228423-44228424
GRCh38: 11:44206873-44206874
47 EXT2 NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) SNV Pathogenic
Pathogenic
2472 rs121918279 GRCh37: 11:44129776-44129776
GRCh38: 11:44108226-44108226
48 EXT2 NM_207122.2(EXT2):c.906_907dup (p.His303fs) DUP Pathogenic
279805 rs886041199 GRCh37: 11:44146500-44146501
GRCh38: 11:44124950-44124951
49 EXT2 NM_207122.2(EXT2):c.937C>T (p.Gln313Ter) SNV Pathogenic
265134 rs763718818 GRCh37: 11:44146532-44146532
GRCh38: 11:44124982-44124982
50 EXT2 NM_207122.2(EXT2):c.429C>A (p.Tyr143Ter) SNV Pathogenic
465701 rs1555002543 GRCh37: 11:44129691-44129691
GRCh38: 11:44108141-44108141

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

73
# 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

Cosmic variations for Exostoses, Multiple, Type Ii:

8 (show top 50) (show all 93)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM90465396 IDH1 bone,scapula,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 5
2 COSM90465359 IDH1 bone,scapula,chondrosarcoma,NS c.395G>A p.R132H 2:208248388-208248388 5
3 COSM91752194 COL2A1 bone,NS,chondrosarcoma,peripheral c.2437G>A p.G813S 12:47980044-47980044 5
4 COSM99787236 COL2A1 bone,NS,chondrosarcoma,peripheral c.2644G>A p.G882S 12:47980044-47980044 5
5 COSM99787225 COL2A1 bone,NS,chondrosarcoma,peripheral c.3145G>A p.D1049N 12:47977620-47977620 5
6 COSM91752188 COL2A1 bone,NS,chondrosarcoma,peripheral c.2938G>A p.D980N 12:47977620-47977620 5
7 COSM86645205 RB1 bone,tibia,osteosarcoma,NS c.1499-1G>T p.? 13:48381246-48381246 4
8 COSM86624252 RB1 bone,tibia,osteosarcoma,NS c.1215+1G>A p.? 13:48373493-48373493 4
9 COSM90850096 KMT2C bone,femur,osteosarcoma,NS c.7214A>G p.E2405G 7:152180062-152180062 4
10 COSM88388477 KMT2C bone,femur,osteosarcoma,NS c.1181G>A p.C394Y 7:152265041-152265041 4
11 COSM88442911 KMT2C bone,femur,osteosarcoma,NS c.8174A>G p.E2725G 7:152177279-152177279 4
12 COSM88389816 KMT2C bone,femur,osteosarcoma,NS c.2459C>T p.T820I 7:152247975-152247975 4
13 COSM88442935 KMT2C bone,femur,osteosarcoma,NS c.1277C>A p.P426Q 7:152263038-152263038 4
14 COSM90850069 KMT2C bone,femur,osteosarcoma,NS c.9769G>A p.E3257K 7:152163808-152163808 4
15 COSM90792434 KMT2C bone,femur,osteosarcoma,NS c.2656C>T p.R886C 7:152235930-152235930 4
16 COSM90790761 KMT2C bone,femur,osteosarcoma,NS c.1181G>A p.C394Y 7:152265041-152265041 4
17 COSM88441962 KMT2C bone,femur,osteosarcoma,NS c.404C>T p.A135V 7:152315324-152315324 4
18 COSM90850919 KMT2C bone,femur,osteosarcoma,NS c.8174A>G p.E2725G 7:152177279-152177279 4
19 COSM88442922 KMT2C bone,femur,osteosarcoma,NS c.6632G>C p.R2211T 7:152181228-152181228 4
20 COSM90850929 KMT2C bone,femur,osteosarcoma,NS c.6632G>C p.R2211T 7:152181228-152181228 4
21 COSM88441911 KMT2C bone,femur,osteosarcoma,NS c.7318C>T p.P2440S 7:152179958-152179958 4
22 COSM90850116 KMT2C bone,femur,osteosarcoma,NS c.3119C>A p.P1040Q 7:152224474-152224474 4
23 COSM88387461 KMT2C bone,femur,osteosarcoma,NS c.2512G>A p.G838S 7:152247922-152247922 4
24 COSM90850903 KMT2C bone,femur,osteosarcoma,NS c.9622T>C p.S3208P 7:152167274-152167274 4
25 COSM88441921 KMT2C bone,femur,osteosarcoma,NS c.7214A>G p.E2405G 7:152180062-152180062 4
26 COSM90850111 KMT2C bone,femur,osteosarcoma,NS c.3155A>T p.K1052I 7:152224438-152224438 4
27 COSM90789498 KMT2C bone,femur,osteosarcoma,NS c.2512G>A p.G838S 7:152247922-152247922 4
28 COSM90792686 KMT2C bone,femur,osteosarcoma,NS c.2459C>T p.T820I 7:152247975-152247975 4
29 COSM88442892 KMT2C bone,femur,osteosarcoma,NS c.9622T>C p.S3208P 7:152167274-152167274 4
30 COSM88441896 KMT2C bone,femur,osteosarcoma,NS c.9769G>A p.E3257K 7:152163808-152163808 4
31 COSM88441903 KMT2C bone,femur,osteosarcoma,NS c.9182A>G p.Q3061R 7:152176271-152176271 4
32 COSM90809622 KMT2C bone,femur,osteosarcoma,NS c.2468T>C p.I823T 7:152247966-152247966 4
33 COSM88442928 KMT2C bone,femur,osteosarcoma,NS c.5459C>G p.S1820C 7:152182401-152182401 4
34 COSM88403451 KMT2C bone,femur,osteosarcoma,NS c.10383T>G p.D3461E 7:152163194-152163194 4
35 COSM88441945 KMT2C bone,femur,osteosarcoma,NS c.3119C>A p.P1040Q 7:152224474-152224474 4
36 COSM88442903 KMT2C bone,femur,osteosarcoma,NS c.9617G>C p.R3206T 7:152167279-152167279 4
37 COSM90850945 KMT2C bone,femur,osteosarcoma,NS c.1277C>A p.P426Q 7:152263038-152263038 4
38 COSM90850106 KMT2C bone,femur,osteosarcoma,NS c.5669G>C p.R1890P 7:152182191-152182191 4
39 COSM90850089 KMT2C bone,femur,osteosarcoma,NS c.7318C>T p.P2440S 7:152179958-152179958 4
40 COSM88441951 KMT2C bone,femur,osteosarcoma,NS c.3029G>T p.C1010F 7:152224564-152224564 4
41 COSM90788208 KMT2C bone,femur,osteosarcoma,NS c.925C>T p.P309S 7:152273792-152273792 4
42 COSM88403468 KMT2C bone,femur,osteosarcoma,NS c.2468T>C p.I823T 7:152247966-152247966 4
43 COSM90850133 KMT2C bone,femur,osteosarcoma,NS c.404C>T p.A135V 7:152315324-152315324 4
44 COSM88389429 KMT2C bone,femur,osteosarcoma,NS c.2656C>T p.R886C 7:152235930-152235930 4
45 COSM88386447 KMT2C bone,femur,osteosarcoma,NS c.925C>T p.P309S 7:152273792-152273792 4
46 COSM88441939 KMT2C bone,femur,osteosarcoma,NS c.3155A>T p.K1052I 7:152224438-152224438 4
47 COSM90850077 KMT2C bone,femur,osteosarcoma,NS c.9182A>G p.Q3061R 7:152176271-152176271 4
48 COSM90850910 KMT2C bone,femur,osteosarcoma,NS c.9617G>C p.R3206T 7:152167279-152167279 4
49 COSM90850939 KMT2C bone,femur,osteosarcoma,NS c.5459C>G p.S1820C 7:152182401-152182401 4
50 COSM90809603 KMT2C bone,femur,osteosarcoma,NS c.10383T>G p.D3461E 7:152163194-152163194 4

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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