MCID: MSC036
MIFTS: 25

Muscular Dystrophy-Dystroglycanopathy , Type C, 5 malady

Neuronal diseases, Metabolic diseases, Muscle diseases categories

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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46OMIM, 32MalaCards
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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 limb-girdle muscular dystrophy type 2i and 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:46 607155

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

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46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

48
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 46
autosomal recessive limb-girdle muscular dystrophy type 2i 48
limb girdle muscular dystrophy due to fkrp deficiency 48
muscular dystrophy, limb-girdle, type 2i 60
lgmd2i 48


External Ids:

OMIM46 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
1limb-girdle muscular dystrophy type 2i10.5
2muscular dystrophy10.3
3limb-girdle muscular dystrophy10.2
4becker muscular dystrophy10.0
5duchenne muscular dystrophy10.0
6dilated cardiomyopathy10.0
7calpainopathy10.0

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



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

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

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46OMIM
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Clinical features from OMIM:

607155

Clinical synopsis from OMIM:

607155

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

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

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Drug clinical trials:

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Search NIH Clinical Center 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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32MalaCards
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

32
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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Genetic Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

62 (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

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