MCID: MSC049
MIFTS: 25

Muscular Dystrophy, Limb-Girdle, Type Ic malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Metabolic 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 49 11 45
Lgmd1c 45 22 47 51 67
Limb-Girdle Muscular Dystrophy Due to Caveolin-3 Deficiency 45 51
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 45 51
 
Limb-Girdle Muscular Dystrophy Type 1c 45 22
Limb-Girdle Muscular Dystrophy 1c 67 24
Muscular Dystrophy, Limb-Girdle, Type 1c 65
Lgmd 1c 22

Characteristics:

Orphanet epidemiological data:

51
lgmd1c:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

61
muscular dystrophy, limb-girdle, type ic:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: childhood onset


Classifications:



External Ids:

OMIM49 607801
Orphanet51 265
ICD10 via Orphanet28 G71.0
MedGen34 C1832567
MeSH36 D049288
UMLS65 C1832567

Summaries for Muscular Dystrophy, Limb-Girdle, Type Ic

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UniProtKB/Swiss-Prot:67 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 acute closed-angle glaucoma and cellulitis, and has symptoms including elevated serum creatine phosphokinase, myalgia and gowers sign. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type Ic is CAV3 (Caveolin 3), and among its related pathways is Smooth Muscle Contraction. Related mouse phenotypes are immune system and homeostasis/metabolism.

Description from OMIM:49 607801

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

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Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
muscular dystrophy, limb-girdle, type ic Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2e Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 1f Muscular Dystrophy, Limb-Girdle, Type 1e
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 2c
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 2d Limb-Girdle Muscular Dystrophy Type 1d
Limb-Girdle Muscular Dystrophies, Autosomal Dominant Limb-Girdle Muscular Dystrophies, Autosomal Recessive
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Diseases related to Muscular Dystrophy, Limb-Girdle, Type Ic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1acute closed-angle glaucoma10.5
2cellulitis10.5
3wells syndrome10.5
4muscular dystrophy, limb-girdle, type 1a10.4
5limb-girdle muscular dystrophy9.9CAV3, DYSF
6histiocytoma9.8CAV3, DYSF
7lmna-related muscle diseases9.8DYSF, FKRP
8bardet-biedl syndrome 119.8DYSF, FKRP
9cardiomyopathy, hypertrophic, 259.8DYSF, FKRP
10muscle hypertrophy9.8FKRP, MSTN
11cardiomyopathy, dilated, 1l9.8DYSF, FKRP
12cornelia de lange syndrome9.8CAV3, DYSF
13glycogen storage disease 0, muscle9.7DYSF, FKRP
14mast cell disease9.7DYSF, FKRP
15becker muscular dystrophy9.7CAV3, MSTN
16immunodeficiency 34, mycobacteriosis, x-linked9.6DYSF, FKRP
17myopathy, myofibrillar, 39.5CAV3, DYSF, FKRP
18muscular dystrophy, limb-girdle, type 2b9.5CAV3, DYSF, FKRP
19cartilage disease9.5CAV3, DYSF, FKRP
20alternating esotropia9.4CAV3, DYSF, FKRP
21muscular dystrophy, limb-girdle, type ic9.2CAV3, DYSF, FKRP, MSTN
22kummell's disease9.2CAV3, DYSF, FKRP, MSTN

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type Ic:



Diseases related to muscular dystrophy, limb-girdle, type ic

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

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 1c22

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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MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type Ic:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0CAV3, DYSF, FKRP, MSTN
2MP:00053767.9CAV3, DYSF, FKRP, MSTN
3MP:00053697.7CAV3, DYSF, FKRP, MSTN

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:

67
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 Muscular Dystrophy, Limb-Girdle, Type Ic:

5
id Gene Variation 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
3NM_033337.2(CAV3): c.84C> A (p.Asp28Glu)single nucleotide variantPathogenicrs116840782GRCh37Chr 3, 8775646: 8775646
4CAV3NM_033337.2(CAV3): c.136G> A (p.Ala46Thr)single nucleotide variantPathogenicrs116840789GRCh37Chr 3, 8787233: 8787233
5NM_033337.2(CAV3): c.80G> A (p.Arg27Gln)single nucleotide variantPathogenicrs116840778GRCh37Chr 3, 8775642: 8775642
6CAV3NM_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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Pathways related to Muscular Dystrophy, Limb-Girdle, Type Ic according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3CAV3, DYSF

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

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Cellular components related to Muscular Dystrophy, Limb-Girdle, Type Ic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423838.5CAV3, DYSF, FKRP

Biological processes related to Muscular Dystrophy, Limb-Girdle, Type Ic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.4CAV3, MSTN

Sources for Muscular Dystrophy, Limb-Girdle, Type Ic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet