MCID: MSC049
MIFTS: 26

Muscular Dystrophy, Limb-Girdle, Type Ic malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Type Ic

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Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type Ic:

Name: Muscular Dystrophy, Limb-Girdle, Type Ic 50 12
Lgmd1c 23 52 68 48
Muscular Dystrophy, Limb-Girdle, Type 1c 50 66
Limb-Girdle Muscular Dystrophy 1c 68 25
 
Limb-Girdle Muscular Dystrophy Due to Caveolin-3 Deficiency 52
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 52
Limb-Girdle Muscular Dystrophy Type 1c 23
Lgmd 1c 23

Characteristics:

Orphanet epidemiological data:

52
lgmd1c:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

HPO:

62
muscular dystrophy, limb-girdle, type ic:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: childhood onset


Classifications:



External Ids:

OMIM50 607801
Orphanet52 ORPHA265
ICD10 via Orphanet29 G71.0
MedGen35 C1832567
MeSH37 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Type Ic

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UniProtKB/Swiss-Prot:68 Limb-girdle muscular dystrophy 1C: A degenerative myopathy characterized by calf hypertrophy and mild to moderate proximal muscle weakness. Inheritance can be autosomal dominant or recessive.

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type Ic, also known as lgmd1c, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including muscle cramp, muscle cramp and myalgia. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type Ic is CAV3 (Caveolin 3).

Description from OMIM:50 607801

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type Ic

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Symptoms for Muscular Dystrophy, Limb-Girdle, Type Ic

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Symptoms by clinical synopsis from OMIM:

607801

Clinical features from OMIM:

607801

HPO human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type Ic:

(show all 6)
id Description Frequency HPO Source Accession
1 elevated serum creatine phosphokinase HP:0003236
2 myalgia HP:0003326
3 gowers sign HP:0003391
4 muscle cramps HP:0003394
5 muscular dystrophy HP:0003560
6 calf muscle hypertrophy HP:0008981

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Type Ic:


muscle cramp, myalgia

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Type Ic

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type Ic

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type Ic

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Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type Ic:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1c25
2 Limb-Girdle Muscular Dystrophy Type 1c23

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type Ic

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Animal Models for Muscular Dystrophy, Limb-Girdle, Type Ic or affiliated genes

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Publications for Muscular Dystrophy, Limb-Girdle, Type Ic

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Variations for Muscular Dystrophy, Limb-Girdle, Type Ic

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type Ic:

68
id Symbol AA change Variation ID SNP ID
1CAV3p.Pro105LeuVAR_001403rs116840805
2CAV3p.Arg27GlnVAR_011512rs116840778
3CAV3p.Ala46ThrVAR_011513rs116840789
4CAV3p.Asp28GluVAR_015374rs116840782
5CAV3p.Asn33LysVAR_021016rs1008642
6CAV3p.Val44GluVAR_021017rs116840788
7CAV3p.Thr64ProVAR_021018rs199476332

Clinvar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type Ic:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_033337.2(CAV3): c.100G> A (p.Glu34Lys)single nucleotide variantLikely pathogenicrs199476325GRCh37Chr 3, 8775662: 8775662
2CAV3NM_033337.2(CAV3): c.314C> T (p.Pro105Leu)single nucleotide variantPathogenicrs116840805GRCh37Chr 3, 8787411: 8787411
3CAV3NM_033337.2(CAV3): c.189_197delCACCTTCAC (p.Thr64_Thr66del)deletionPathogenicrs199476331GRCh38Chr 3, 8745600: 8745608
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 Muscular Dystrophy, Limb-Girdle, Type Ic

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Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type Ic.

Pathways for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type Ic

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GO Terms for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type Ic

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Sources for Muscular Dystrophy, Limb-Girdle, Type Ic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet