MCID: LMB030
MIFTS: 26

Limb-Girdle Muscular Dystrophy Type 1c malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories
Download this MalaCard

Summaries for Limb-Girdle Muscular Dystrophy Type 1c

About this section


Fully expand this MalaCard
MalaCards based summary: 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, and has symptoms including 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

About this section
Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Limb-Girdle Muscular Dystrophy Type 1c, Aliases & Descriptions:

Name: 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 62
Lgmd1c 48


Classifications:

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


External Ids:

OMIM46 607801
ICD10 via Orphanet26 G71.0

Related Diseases for Limb-Girdle Muscular Dystrophy Type 1c

About this section

Symptoms for Limb-Girdle Muscular Dystrophy Type 1c

About this section

Symptoms by clinical synopsis from OMIM:

607801

Clinical features from OMIM:

607801

HPO human phenotypes related to Limb-Girdle Muscular Dystrophy Type 1c:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 elevated serum creatine phosphokinase HP:0003236
4 myalgia HP:0003326
5 gowers sign HP:0003391
6 muscle cramps HP:0003394
7 calf muscle hypertrophy HP:0008981
8 childhood onset HP:0011463

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

About this section

Drug clinical trials:

Search ClinicalTrials for Limb-Girdle Muscular Dystrophy Type 1c

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

Genetic Tests for Limb-Girdle Muscular Dystrophy Type 1c

About this section

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

About this section

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

About this section

Publications for Limb-Girdle Muscular Dystrophy Type 1c

About this section

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

About this section

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

64
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:

6
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

About this section
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Limb-Girdle Muscular Dystrophy Type 1c

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet