MCID: EXS005
MIFTS: 12

Exostoses, Multiple, Type 2 malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Cancer diseases categories

Summaries for Exostoses, Multiple, Type 2

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48OMIM, 34MalaCards
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MalaCards: Exostoses, Multiple, Type 2 An important gene associated with Exostoses, Multiple, Type 2 is EXT2 (exostosin glycosyltransferase 2). Affiliated tissues include bone.

Description from OMIM:48 133701

Aliases & Classifications for Exostoses, Multiple, Type 2

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44NIH Rare Diseases, 48OMIM
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Classifications:



Aliases & Descriptions:

exostoses, multiple, type 2 44 48


Related Diseases for Exostoses, Multiple, Type 2

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Diseases in the Exostoses, Multiple, Type 1 family:

Hereditary Multiple Exostoses exostoses, multiple, type 2
Exostoses, Multiple, Type 3

Symptoms for Exostoses, Multiple, Type 2

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

133701

Clinical features from OMIM:

133701

Drugs & Therapeutics for Exostoses, Multiple, Type 2

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Exostoses, Multiple, Type 2

Drug clinical trials:

Search ClinicalTrials for Exostoses, Multiple, Type 2

Search NIH Clinical Center for Exostoses, Multiple, Type 2

Search CenterWatch for Exostoses, Multiple, Type 2

Genetic Tests for Exostoses, Multiple, Type 2

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Anatomical Context for Exostoses, Multiple, Type 2

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34MalaCards
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MalaCards organs/tissues related to Exostoses, Multiple, Type 2:

34
Bone

Animal Models for Exostoses, Multiple, Type 2 or affiliated genes

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Publications for Exostoses, Multiple, Type 2

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Variations for Exostoses, Multiple, Type 2

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Exostoses, Multiple, Type 2:

65
id Symbol AA change Variation ID SNP ID
1EXT2p.Asp227AsnVAR_002378
2EXT2p.Cys85ArgVAR_012823
3EXT2p.Leu152ArgVAR_012824
4EXT2p.Arg179SerVAR_012825
5EXT2p.Ala202ValVAR_012826
6EXT2p.Arg223ProVAR_012827
7EXT2p.Ile380ThrVAR_012828

Clinvar genetic disease variations for Exostoses, Multiple, Type 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1EXT2EXT2, 4-BP DELdeletionPathogenic
2EXT2NM_000401.3(EXT2): c.613C> T (p.Gln205Ter)single nucleotide variantPathogenicrs121918279GRCh37Chr 11, 44129776: 44129776
3EXT2EXT2, IVSDS, G-A, +1single nucleotide variantPathogenic
4EXT2NM_000401.3(EXT2): c.778G> A (p.Asp260Asn)single nucleotide variantPathogenicrs121918280GRCh37Chr 11, 44135787: 44135787
5EXT2NM_000401.3(EXT2): c.765C> G (p.Tyr255Ter)single nucleotide variantPathogenicrs121918281GRCh37Chr 11, 44135774: 44135774
6EXT2NM_000401.3(EXT2): c.871C> T (p.Gln291Ter)single nucleotide variantPathogenicrs267606786GRCh37Chr 11, 44146367: 44146367
7EXT2EXT2, IVS4AS, A-C, -2single nucleotide variantPathogenic

Expression for genes affiliated with Exostoses, Multiple, Type 2

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Exostoses, Multiple, Type 2

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Pathways for genes affiliated with Exostoses, Multiple, Type 2

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Compounds for genes affiliated with Exostoses, Multiple, Type 2

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GO Terms for genes affiliated with Exostoses, Multiple, Type 2

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Products for genes affiliated with Exostoses, Multiple, Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Exostoses, Multiple, Type 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet