MCID: MSC036
MIFTS: 22

Muscular Dystrophy-Dystroglycanopathy , Type C, 5 malady

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

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47OMIM, 33MalaCards
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MalaCards: Muscular Dystrophy-Dystroglycanopathy , Type C, 5, also known as autosomal recessive limb-girdle muscular dystrophy type 2i, is related to muscular dystrophy and limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5 is FKRP (fukutin related protein). Affiliated tissues include brain.

Description from OMIM:47 607155

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

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47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
autosomal recessive limb-girdle muscular dystrophy type 2i:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy , type c, 5 47
autosomal recessive limb-girdle muscular dystrophy type 2i 49
limb-girdle muscular dystrophy due to fkrp deficiency 49
muscular dystrophy, limb-girdle, type 2i 62
lgmd2i 49


External Ids:

OMIM47 607155
ICD10 via Orphanet26 G71.0

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

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17GeneCards, 18GeneDecks
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Diseases in the Muscular Dystrophy-Dystroglycanopathy , Type a, 7 family:

Muscular Dystrophy-Dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 4
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
muscular dystrophy-dystroglycanopathy , type c, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy10.4
2limb-girdle muscular dystrophy10.3
3becker muscular dystrophy10.0
4dilated cardiomyopathy10.0
5calpainopathy10.0
6limb-girdle muscular dystrophy type 2i10.0

Graphical network of diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:



Diseases related to muscular dystrophy-dystroglycanopathy  , type c, 5

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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47OMIM
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Symptoms by clinical synopsis from OMIM:

607155

Clinical features from OMIM:

607155

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

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

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

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33MalaCards
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

33
Brain

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

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

64 (show all 18)
id Symbol AA change Variation ID SNP ID
1FKRPp.Arg143SerVAR_018282rs148206382
2FKRPp.Leu276IleVAR_018285rs28937900
3FKRPp.Arg312CysVAR_018287
4FKRPp.Pro316ArgVAR_018289
5FKRPp.Arg339LeuVAR_018291
6FKRPp.Arg54TrpVAR_019272rs28937905
7FKRPp.Tyr307AsnVAR_022850
8FKRPp.Pro316SerVAR_022851
9FKRPp.Asp360AsnVAR_022853
10FKRPp.Pro462SerVAR_022856
11FKRPp.Val79MetVAR_065055rs104894683
12FKRPp.Arg134TrpVAR_065056
13FKRPp.Val160PheVAR_065057
14FKRPp.Tyr182CysVAR_065058
15FKRPp.Thr293IleVAR_065059
16FKRPp.Val300AlaVAR_065060
17FKRPp.Val300MetVAR_065061
18FKRPp.Pro358LeuVAR_065062

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

1
id Gene Name Type Significance SNP ID Assembly Location
1FKRPNM_024301.4(FKRP): c.826C> A (p.Leu276Ile)single nucleotide variantPathogenicrs28937900GRCh37Chr 19, 47259533: 47259533
2FKRPFKRP, 4-BP INS, NT390insertionPathogenic
3FKRPNM_024301.4(FKRP): c.1486T> A (p.Ter496Arg)single nucleotide variantPathogenicrs104894682GRCh37Chr 19, 47260193: 47260193
4FKRPNM_024301.4(FKRP): c.160C> T (p.Arg54Trp)single nucleotide variantPathogenicrs28937905GRCh37Chr 19, 47258867: 47258867
5FKRPNM_024301.4(FKRP): c.235G> A (p.Val79Met)single nucleotide variantPathogenicrs104894683GRCh37Chr 19, 47258942: 47258942
6FKRPNM_024301.4(FKRP): c.764G> A (p.Trp255Ter)single nucleotide variantPathogenicrs104894689GRCh37Chr 19, 47259471: 47259471
7FKRPNM_024301.4(FKRP): c.400C> T (p.Arg134Trp)single nucleotide variantPathogenicrs104894690GRCh37Chr 19, 47259107: 47259107
8FKRPNM_024301.4(FKRP): c.899T> C (p.Val300Ala)single nucleotide variantPathogenicrs104894691GRCh37Chr 19, 47259606: 47259606
9FKRPNM_024301.4(FKRP): c.919T> A (p.Tyr307Asn)single nucleotide variantPathogenicrs104894692GRCh37Chr 19, 47259626: 47259626

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

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 5.

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 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