MCID: EXS005
MIFTS: 16

Exostoses, Multiple, Type 2 malady

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

Aliases & Classifications for Exostoses, Multiple, Type 2

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Exostoses, Multiple, Type 2, Aliases & Descriptions:

Name: Exostoses, Multiple, Type 2 45 10 41
 
Exostoses, Multiple, Type Ii 45


Classifications:



External Ids:

OMIM45 133701

Summaries for Exostoses, Multiple, Type 2

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OMIM:45 Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly... (133701) more...

MalaCards based summary: Exostoses, Multiple, Type 2, is also known as exostoses, multiple, type ii, and has symptoms including short stature, autosomal dominant inheritance and rib exostoses. An important gene associated with Exostoses, Multiple, Type 2 is EXT2 (exostosin glycosyltransferase 2). Affiliated tissues include bone.

Related Diseases for Exostoses, Multiple, Type 2

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Diseases in the Hereditary Multiple Exostoses family:

Exostoses, Multiple, Type 1 exostoses, multiple, type 2
Exostoses, Multiple, Type 3

Symptoms for Exostoses, Multiple, Type 2

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Symptoms by clinical synopsis from OMIM:

133701

Clinical features from OMIM:

133701

HPO human phenotypes related to Exostoses, Multiple, Type 2:

(show all 14)
id Description Frequency HPO Source Accession
1 short stature frequent (33%) HP:0004322
2 autosomal dominant inheritance HP:0000006
3 rib exostoses HP:0000896
4 scapular exostoses HP:0000918
5 cervical myelopathy HP:0002318
6 coxa vara HP:0002812
7 genu valgum HP:0002857
8 madelung-like forearm deformities HP:0003068
9 protuberances at ends of long bones HP:0003105
10 pelvic exostoses HP:0003276
11 peripheral nerve compression HP:0003406
12 juvenile onset HP:0003621
13 chondrosarcoma HP:0006765
14 short metacarpal HP:0010049

Drugs & Therapeutics for Exostoses, Multiple, Type 2

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Drug clinical trials:

Search ClinicalTrials for Exostoses, Multiple, Type 2

Search NIH Clinical Center 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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MalaCards organs/tissues related to Exostoses, Multiple, Type 2:

31
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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UniProtKB/Swiss-Prot genetic disease variations for Exostoses, Multiple, Type 2:

62
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:

6
id Gene Variation 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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Search GEO for disease gene expression data for Exostoses, Multiple, Type 2.

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
  • Proteins
  • Kits and Assays

Sources for Exostoses, Multiple, Type 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet