MCID: MSC043
MIFTS: 14

Muscular Dystrophy-Dystroglycanopathy , Type a, 2 malady

Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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48OMIM, 34MalaCards
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MalaCards: Muscular Dystrophy-Dystroglycanopathy , Type a, 2 An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2 is POMT2 (protein-O-mannosyltransferase 2). Affiliated tissues include eye and brain.

Description from OMIM:48 613150

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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48OMIM
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Classifications:



Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy , type a, 2 48


Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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48OMIM
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Symptoms by clinical synopsis from OMIM:

613150

Clinical features from OMIM:

613150

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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34MalaCards
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 2:

34
Eye, Brain

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type a, 2 or affiliated genes

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 2:

65
id Symbol AA change Variation ID SNP ID
1POMT2p.Ile198AsnVAR_065038
2POMT2p.Gly353SerVAR_065040
3POMT2p.Val373PheVAR_065041
4POMT2p.Arg413ProVAR_065042rs190285831
5POMT2p.Gly482ValVAR_065044
6POMT2p.Tyr666CysVAR_065045
7POMT2p.Gly726GluVAR_065047
8POMT2p.His478ArgVAR_068968

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 2:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1POMT2NM_013382.5(POMT2): c.1912C> T (p.Arg638Ter)single nucleotide variantPathogenicrs119463989GRCh37Chr 14, 77745192: 77745192
2POMT2POMT2, IVS8DS, G-A, +1single nucleotide variantPathogenic
3POMT2POMT2, 1-BP DEL, 1261CdeletionPathogenic
4POMT2NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys)single nucleotide variantPathogenicrs200198778GRCh37Chr 14, 77745107: 77745107
5POMT2NM_013382.5(POMT2): c.2177G> A (p.Gly726Glu)single nucleotide variantPathogenicrs267606969GRCh37Chr 14, 77743795: 77743795
6POMT2NM_013382.5(POMT2): c.1238G> C (p.Arg413Pro)single nucleotide variantPathogenic, Uncertain significancers190285831GRCh37Chr 14, 77755120: 77755120
7POMT2NM_013382.5(POMT2): c.1117G> T (p.Val373Phe)single nucleotide variantPathogenicrs267606965GRCh37Chr 14, 77757723: 77757723
8POMT2NM_013382.5(POMT2): c.593T> A (p.Ile198Asn)single nucleotide variantPathogenicrs267606972GRCh37Chr 14, 77769241: 77769241
9POMT2NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser)single nucleotide variantPathogenicrs267606970GRCh37Chr 14, 77762566: 77762566
10POMT2POMT2, IVS12AS, G-A, -14single nucleotide variantPathogenic
11POMT2NM_013382.5(POMT2): c.1445G> T (p.Gly482Val)single nucleotide variantPathogenicrs267606968GRCh37Chr 14, 77751863: 77751863

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type a, 2

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Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 2

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 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