MCID: LMB036
MIFTS: 15

Limb-Girdle Muscular Dystrophy Type 2i malady

Muscle diseases category

Summaries for Limb-Girdle Muscular Dystrophy Type 2i

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32MalaCards
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MalaCards: Limb-Girdle Muscular Dystrophy Type 2i, also known as muscular dystrophy, limb-girdle, type 2i, is related to muscular dystrophy and limb-girdle muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy Type 2i is FKRP (fukutin related protein). The compound creatinine have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and muscle.

Aliases & Classifications for Limb-Girdle Muscular Dystrophy Type 2i

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20GeneTests, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Muscle diseases


Aliases & Descriptions:

limb-girdle muscular dystrophy type 2i 20
muscular dystrophy, limb-girdle, type 2i 60


Related Diseases for Limb-Girdle Muscular Dystrophy Type 2i

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17GeneCards, 18GeneDecks
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Diseases in the Limb-Girdle Muscular Dystrophy, Type 2d family:

Limb-Girdle Muscular Dystrophy Limb-Girdle Muscular Dystrophy, Type 2c
Limb-Girdle Muscular Dystrophy Type 2e Limb-Girdle Muscular Dystrophy, Type 1a
Limb-Girdle Muscular Dystrophy, Type 1b Limb-Girdle Muscular Dystrophy, Type 2b
Limb-Girdle Muscular Dystrophy Type 2f Limb-Girdle Muscular Dystrophy, Type 2g
Limb-Girdle Muscular Dystrophy Type 2h limb-girdle muscular dystrophy type 2i
Limb-Girdle Muscular Dystrophy Type 1d Limb-Girdle Muscular Dystrophy Type 1e
Limb-Girdle Muscular Dystrophy Type 1c Limb-Girdle Muscular Dystrophy Type 2k
Limb-Girdle Muscular Dystrophy Type 2j Limb-Girdle Muscular Dystrophy Type 2m
Limb-Girdle Muscular Dystrophy Type 2o Limb-Girdle Muscular Dystrophy Type 2n
Limb-Girdle Muscular Dystrophy Type 1f Limb-Girdle Muscular Dystrophy Type 1g
Limb-Girdle Muscular Dystrophy Type 2q Limb-Girdle Muscular Dystrophy Type 1h
Limb-Girdle Muscular Dystrophy Type 2l Muscular Dystrophy, Limb-Girdle, Type 2r

Diseases related to Limb-Girdle Muscular Dystrophy Type 2i via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy31.5TRIM32
2limb-girdle muscular dystrophy31.5FKRP, CHKB
3muscular dystrophy-dystroglycanopathy , type c, 530.6FKRP, TRIM32, CHKB
4myositis10.5
5mental retardation10.0FKRP
6intellectual disability10.0FKRP
7myopathy10.0FKRP, CHKB
8limb-girdle muscular dystrophy type 2h10.0FKRP, TRIM32
9noonan syndrome10.0CHKB, FKRP
10dilated cardiomyopathy10.0FKRP, CHKB
11limb-girdle muscular dystrophy, type 2g10.0TRIM32, FKRP
12limb-girdle muscular dystrophy type 2e10.0TRIM32, FKRP
13limb-girdle muscular dystrophy, type 1a10.0FKRP, TRIM32
14limb-girdle muscular dystrophy type 2f10.0FKRP, TRIM32
15limb-girdle muscular dystrophy, type 2b10.0FKRP, TRIM32
16calpainopathy10.0TRIM32, FKRP
17congenital heart defect10.0FKRP, CHKB

Graphical network of diseases related to Limb-Girdle Muscular Dystrophy Type 2i:



Diseases related to limb-girdle muscular dystrophy type 2i

Clinical Features for Limb-Girdle Muscular Dystrophy Type 2i

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Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy Type 2i

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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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Genetic Tests for Limb-Girdle Muscular Dystrophy Type 2i

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20GeneTests
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Genetic tests related to Limb-Girdle Muscular Dystrophy Type 2i:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2i20

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 2i

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Animal Models for Limb-Girdle Muscular Dystrophy Type 2i or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy Type 2i:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.5FKRP, TRIM32, CHKB
2MP:00053698.4FKRP, TRIM32, CHKB
3MP:00053868.2FKRP, TRIM32, CHKB

Publications for Limb-Girdle Muscular Dystrophy Type 2i

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Genetic Variations for Limb-Girdle Muscular Dystrophy Type 2i

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Expression for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy Type 2i.

Pathways for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

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Compounds for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

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44Novoseek
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Compounds related to Limb-Girdle Muscular Dystrophy Type 2i according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1creatinine449.3FKRP, CHKB

GO Terms for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

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Products for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2i

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Limb-Girdle Muscular Dystrophy Type 2i

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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