MCID: LMB030
MIFTS: 25

Limb-Girdle Muscular Dystrophy Type 1c malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories

Summaries for Limb-Girdle Muscular Dystrophy Type 1c

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48OMIM, 34MalaCards
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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:48 607801

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

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21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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 21 23
limb-girdle muscular dystrophy due to caveolin-3 deficiency 50
autosomal dominant limb-girdle muscular dystrophy type 1c 50
muscular dystrophy, limb-girdle, type ic 48
muscular dystrophy, limb-girdle, type 1c 63
lgmd1c 50


External Ids:

OMIM48 607801
ICD10 via Orphanet27 G71.0

Related Diseases for Limb-Girdle Muscular Dystrophy Type 1c

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18GeneCards, 19GeneDecks
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Symptoms for Limb-Girdle Muscular Dystrophy Type 1c

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48OMIM
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Symptoms by clinical synopsis from OMIM:

607801

Clinical features from OMIM:

607801

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Limb-Girdle Muscular Dystrophy Type 1c

Drug clinical trials:

Search ClinicalTrials for Limb-Girdle Muscular Dystrophy Type 1c

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy Type 1c

Search CenterWatch for Limb-Girdle Muscular Dystrophy Type 1c

Genetic Tests for Limb-Girdle Muscular Dystrophy Type 1c

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21GeneTests, 23GTR
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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 1c21
2 Limb-Girdle Muscular Dystrophy, Type 1c23

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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53PubMed
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Articles related to Limb-Girdle Muscular Dystrophy Type 1c:

idTitleAuthorsYear
1
A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes. (14600260)
2003

Variations for Limb-Girdle Muscular Dystrophy Type 1c

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Limb-Girdle Muscular Dystrophy Type 1c:

65
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

Clinvar genetic disease variations for Limb-Girdle Muscular Dystrophy Type 1c:

1
id Gene Name Type Significance SNP ID Assembly Location
1CAV3NM_033337.2(CAV3): c.314C> T (p.Pro105Leu)single nucleotide variantPathogenicrs116840805GRCh37Chr 3, 8787411: 8787411
2CAV3NM_033337.2(CAV3): c.189_197delCACCTTCAC (p.Thr64_Thr66del)deletionPathogenicrs199476331GRCh38Chr 3, 8745600: 8745608
3CAV3NM_033337.2(CAV3): c.216C> G (p.Cys72Trp)single nucleotide variantPathogenicrs116840776GRCh37Chr 3, 8787313: 8787313
4NM_033337.2(CAV3): c.84C> A (p.Asp28Glu)single nucleotide variantPathogenicrs116840782GRCh37Chr 3, 8775646: 8775646
5CAV3NM_033337.2(CAV3): c.136G> A (p.Ala46Thr)single nucleotide variantPathogenicrs116840789GRCh37Chr 3, 8787233: 8787233
6NM_033337.2(CAV3): c.80G> A (p.Arg27Gln)single nucleotide variantPathogenicrs116840778GRCh37Chr 3, 8775642: 8775642
7CAV3NM_033337.2(CAV3): c.290_292delTCT (p.Phe97del)deletionPathogenicrs199476335GRCh37Chr 3, 8787387: 8787389

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

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Sources:
2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet