MCID: LMB030
MIFTS: 25

Limb-Girdle Muscular Dystrophy Type 1c malady

Neuronal diseases, Muscle diseases categories

Summaries for Limb-Girdle Muscular Dystrophy Type 1c

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46OMIM, 32MalaCards
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MalaCards: Limb-Girdle Muscular Dystrophy Type 1c, also known as limb-girdle muscular dystrophy due to caveolin-3 deficiency, is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy Type 1c is CAV3 (caveolin 3).

Description from OMIM:46 607801

Aliases & Classifications for Limb-Girdle Muscular Dystrophy Type 1c

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
limb-girdle muscular dystrophy due to caveolin-3 deficiency:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

limb-girdle muscular dystrophy type 1c 20 22
limb-girdle muscular dystrophy due to caveolin-3 deficiency 48
autosomal dominant limb-girdle muscular dystrophy type 1c 48
muscular dystrophy, limb-girdle, type ic 46
muscular dystrophy, limb-girdle, type 1c 60
lgmd1c 48


External Ids:

OMIM46 607801
ICD10 via Orphanet26 G71.0

Related Diseases for Limb-Girdle Muscular Dystrophy Type 1c

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17GeneCards, 18GeneDecks
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Clinical Features for Limb-Girdle Muscular Dystrophy Type 1c

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Sources:
46OMIM
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Clinical features from OMIM:

607801

Clinical synopsis from OMIM:

607801

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy Type 1c

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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 1c

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20GeneTests, 22GTR
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Genetic tests related to Limb-Girdle Muscular Dystrophy Type 1c:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 1c20
2 Limb-Girdle Muscular Dystrophy, Type 1c22

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 1c

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Animal Models for Limb-Girdle Muscular Dystrophy Type 1c or affiliated genes

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Publications for Limb-Girdle Muscular Dystrophy Type 1c

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Genetic Variations for Limb-Girdle Muscular Dystrophy Type 1c

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Limb-Girdle Muscular Dystrophy Type 1c:

62
id Symbol AA change Variation ID SNP ID
1CAV3p.Pro105LeuVAR_001403
2CAV3p.Arg27GlnVAR_011512
3CAV3p.Ala46ThrVAR_011513
4CAV3p.Asp28GluVAR_015374
5CAV3p.Asn33LysVAR_021016rs1008642
6CAV3p.Val44GluVAR_021017
7CAV3p.Thr64ProVAR_021018

Expression for genes affiliated with Limb-Girdle Muscular Dystrophy Type 1c

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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 1c

Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy Type 1c.

Pathways for genes affiliated with Limb-Girdle Muscular Dystrophy Type 1c

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Compounds for genes affiliated with Limb-Girdle Muscular Dystrophy Type 1c

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GO Terms for genes affiliated with Limb-Girdle Muscular Dystrophy Type 1c

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Products for genes affiliated with Limb-Girdle Muscular Dystrophy Type 1c

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Limb-Girdle Muscular Dystrophy Type 1c

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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