MCID: MSC035
MIFTS: 13

Muscular Dystrophy-Dystroglycanopathy , Type B, 5 malady

Muscle diseases category

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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46OMIM, 32MalaCards
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MalaCards: Muscular Dystrophy-Dystroglycanopathy , Type B, 5 An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5 is FKRP (fukutin related protein). Affiliated tissues include brain.

Description from OMIM:46 606612

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Muscle diseases


Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy , type b, 5 46


Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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Clinical Features for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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46OMIM
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Clinical features from OMIM:

606612

Clinical synopsis from OMIM:

606612

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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32MalaCards
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

32
Brain

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type B, 5 or affiliated genes

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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Genetic Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 5:

62 (show all 13)
id Symbol AA change Variation ID SNP ID
1FKRPp.Pro217ThrVAR_018283
2FKRPp.Ser221ArgVAR_018284rs28937902
3FKRPp.Tyr309CysVAR_018286
4FKRPp.Pro315ThrVAR_018288
5FKRPp.Pro316ArgVAR_018289
6FKRPp.Tyr328SerVAR_018290
7FKRPp.Arg339HisVAR_018292
8FKRPp.Asp401AsnVAR_018293
9FKRPp.Pro448LeuVAR_018294
10FKRPp.Tyr465SerVAR_018295
11FKRPp.Val405LeuVAR_022854rs28937904
12FKRPp.Ala455AspVAR_022855rs28937903
13FKRPp.Asn463AspVAR_065063

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type B, 5

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Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 5

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet