MCID: MSC036
MIFTS: 22

Muscular Dystrophy-Dystroglycanopathy , Type C, 5 malady

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

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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48OMIM, 34MalaCards
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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:48 607155

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

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48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 48
autosomal recessive limb-girdle muscular dystrophy type 2i 50
limb-girdle muscular dystrophy due to fkrp deficiency 50
muscular dystrophy, limb-girdle, type 2i 63
lgmd2i 50


External Ids:

OMIM48 607155
ICD10 via Orphanet27 G71.0

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

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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34MalaCards
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

34
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:
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 C, 5:

65 (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, 16Gene 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
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  • Antibodies

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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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