MCID: LMB036
MIFTS: 10

Limb-Girdle Muscular Dystrophy Type 2i malady

Muscle category

Summaries for Limb-Girdle Muscular Dystrophy Type 2i

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33MalaCards
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MalaCards: Limb-Girdle Muscular Dystrophy Type 2i, also known as muscular dystrophy, limb-girdle, type 2i, is related to limb-girdle muscular dystrophy and muscular dystrophy-dystroglycanopathy , type c, 5. 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

Sources:
20GeneTests, 61UMLS
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Classifications:

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


Aliases & Descriptions:

limb-girdle muscular dystrophy type 2i 20
muscular dystrophy, limb-girdle, type 2i 61


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 2h family:

limb-girdle muscular dystrophy limb-girdle muscular dystrophy, type 2c
limb-girdle muscular dystrophy, type 2d 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 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 16)
idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy31.5FKRP, CHKB
2muscular dystrophy-dystroglycanopathy , type c, 530.7FKRP, TRIM32, CHKB
3mental retardation10.0FKRP
4muscular dystrophy10.0TRIM32
5intellectual disability10.0FKRP
6myopathy10.0FKRP, CHKB
7limb-girdle muscular dystrophy type 2h10.0FKRP, TRIM32
8noonan syndrome10.0CHKB, FKRP
9dilated cardiomyopathy10.0FKRP, CHKB
10limb-girdle muscular dystrophy, type 2g10.0TRIM32, FKRP
11limb-girdle muscular dystrophy type 2e10.0TRIM32, FKRP
12limb-girdle muscular dystrophy, type 1a10.0FKRP, TRIM32
13limb-girdle muscular dystrophy type 2f10.0FKRP, TRIM32
14limb-girdle muscular dystrophy, type 2b10.0FKRP, TRIM32
15calpainopathy10.0TRIM32, FKRP
16congenital 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

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

Sources:
5CenterWatch, 42NIH 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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy Type 2i:

37
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

Genetic Variations for Limb-Girdle Muscular Dystrophy Type 2i

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

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

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

Sources:
45Novoseek
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Compounds related to Limb-Girdle Muscular Dystrophy Type 2i according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1creatinine459.3FKRP, CHKB

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

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

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  • Proteins
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Sources for Limb-Girdle Muscular Dystrophy Type 2i

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