MCID: MSC034
MIFTS: 14

Muscular Dystrophy-Dystroglycanopathy , Type a, 5 malady

Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Eye diseases, Fetal diseases categories
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Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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47OMIM, 33MalaCards
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MalaCards: Muscular Dystrophy-Dystroglycanopathy , Type a, 5 An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 5 is FKRP (fukutin related protein). Affiliated tissues include eye and brain.

Description from OMIM:47 613153

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

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Classifications:



Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy , type a, 5 47


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

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Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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47OMIM
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Symptoms by clinical synopsis from OMIM:

613153

Clinical features from OMIM:

613153

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

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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

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

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

33
Eye, Brain

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

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

64
id Symbol AA change Variation ID SNP ID
1FKRPp.Tyr307AsnVAR_022850
2FKRPp.Cys318TyrVAR_022852

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 5:

1
id Gene Name Type Significance SNP ID Assembly Location
1FKRPNM_024301.4(FKRP): c.1A> G (p.Met1Val)single nucleotide variantPathogenicGRCh38Chr 19, 46755451: 46755451
2FKRPNM_024301.4(FKRP): c.919T> A (p.Tyr307Asn)single nucleotide variantPathogenicrs104894692GRCh37Chr 19, 47259626: 47259626
3FKRPNM_024301.4(FKRP): c.953G> A (p.Cys318Tyr)single nucleotide variantPathogenicrs104894684GRCh37Chr 19, 47259660: 47259660

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

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type a, 5

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 5

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet