MCID: MSC036
MIFTS: 13

Muscular Dystrophy-Dystroglycanopathy , Type C, 5 malady

Neuronal, Metabolic, Muscle categories

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Sources:
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 limb-girdle muscular dystrophy type 2i 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

Sources:
47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


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 61
lgmd2i 49


External Ids:

OMIM47 607155
ICD10 via Orphanet26 G71.0

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

Sources:
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 (congenital with brain and eye anomalies, type a, 11 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8
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
2limb-girdle muscular dystrophy10.3
3becker muscular dystrophy10.0
4duchenne muscular dystrophy10.0
5calpainopathy10.0

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

Sources:
47OMIM
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Clinical features from OMIM:

607155

Clinical synopsis from OMIM:

607155

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

Sources:
5CenterWatch, 42NIH 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

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

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

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

Sources:
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

Sources:
28inGenious Targeting Laboratory
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Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

63 (show all 18)
id Symbol AA change Variation 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

Sources:
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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet