MCID: MSC041
MIFTS: 15

Muscular Dystrophy-Dystroglycanopathy , Type a, 6 malady

Genetic diseases, Muscle diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases, Fetal diseases, Cardiovascular diseases categories
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Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type a, 6 and has symptoms including An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6 is LARGE (like-glycosyltransferase). Affiliated tissues include eye and brain.

Description from OMIM:46 613154

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Muscular Dystrophy-Dystroglycanopathy , Type a, 6, Aliases & Descriptions:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 6 46


Classifications:



Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Symptoms by clinical synopsis from OMIM:

613154

Clinical features from OMIM:

613154

HPO human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

(show all 14)
id Description Frequency HPO Source Accession
1 dandy-walker malformation frequent (33%) HP:0001305
2 autosomal recessive inheritance HP:0000007
3 hydrocephalus HP:0000238
4 cataract HP:0000518
5 optic atrophy HP:0000648
6 intellectual disability HP:0001249
7 areflexia HP:0001284
8 flexion contracture HP:0001371
9 elevated serum creatine phosphokinase HP:0003236
10 muscular dystrophy HP:0003560
11 severe muscular hypotonia HP:0006829
12 type ii lissencephaly HP:0007260
13 retinal dysplasia HP:0007973
14 hypoplasia of the pons HP:0012110

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Drug clinical trials:

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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

32
Eye, Brain

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type a, 6 or affiliated genes

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

64
id Symbol AA change Variation ID SNP ID
1LARGEp.Ser331PheVAR_065064
2LARGEp.Trp495ArgVAR_065065

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 6:

6
id Gene Name Type Significance SNP ID Assembly Location
1LARGELARGE, 63-KB DELdeletionPathogenic
2LARGENM_004737.4(LARGE): c.1483T> C (p.Trp495Arg)single nucleotide variantPathogenicrs267607209GRCh37Chr 22, 33700462: 33700462
3LARGELARGE, GLN87FSundetermined variantPathogenic
4LARGENM_004737.4(LARGE): c.992C> T (p.Ser331Phe)single nucleotide variantPathogenicrs267607210GRCh37Chr 22, 33780191: 33780191

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type a, 6

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 6.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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  • Antibodies
  • Proteins
  • Lysates

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 6

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet