MCID: MSC049
MIFTS: 35

Muscular Dystrophy, Limb-Girdle, Type Ic malady

Categories: Genetic diseases, Rare diseases, Neuronal 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 51 47 12
Lgmd1c 11 47 24 53 69 49
Limb-Girdle Muscular Dystrophy Due to Caveolin-3 Deficiency 11 47 53
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 11 47 53
Muscular Dystrophy, Limb-Girdle, Type 1c 51 67
 
Limb-Girdle Muscular Dystrophy Type 1c 47 24
Limb-Girdle Muscular Dystrophy 1c 69 26
Muscular Dystrophy Limb-Girdle Type Ic 11
Lgmd 1c 24

Characteristics:

Orphanet epidemiological data:

53
lgmd1c:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

HPO:

63
muscular dystrophy, limb-girdle, type ic:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: childhood onset

Classifications:



External Ids:

OMIM51 607801
Disease Ontology11 DOID:0110302
ICD1029 G71.0
Orphanet53 ORPHA265
ICD10 via Orphanet30 G71.0
MedGen36 C1832567
MeSH38 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Type Ic

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UniProtKB/Swiss-Prot:69 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 rippling muscle disease and muscular dystrophy, limb-girdle, type 1a, 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 homeostasis/metabolism and immune system.

Disease Ontology:11 An autosomal dominant limb-girdle muscular dystrophy that has material basis in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.

Description from OMIM:51 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 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1rippling muscle disease31.6CAV3, DYSF
2muscular dystrophy, limb-girdle, type 1a10.9
3muscular dystrophy10.2
4limb-girdle muscular dystrophy10.2
5immunodeficiency 34, mycobacteriosis, x-linked9.8CAV3, MSTN
6allergic bronchopulmonary aspergillosis, familial9.6DYSF, MSTN
7muscle hypertrophy9.6FKRP, MSTN
8thrombocytopenia, x-linked9.5DYSF, FKRP
9emery-dreifuss muscular dystrophy9.5CAV3, DYSF
10median arcuate ligament syndrome9.1CAV3, DYSF, FKRP
11classic variant of chromophobe renal cell carcinoma8.7CAV3, DYSF, FKRP, MSTN

Graphical network of 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

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

 63 (show all 6)
id Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase63 HP:0003236
2 myalgia63 HP:0003326
3 gowers sign63 HP:0003391
4 muscle cramps63 HP:0003394
5 muscular dystrophy63 HP:0003560
6 calf muscle hypertrophy63 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 1c26
2 Limb-Girdle Muscular Dystrophy Type 1c24

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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.8CAV3, DYSF, FKRP, MSTN
2MP:00053878.7CAV3, DYSF, FKRP, MSTN
3MP:00053698.0CAV3, 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:

69
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
1CAV3NM_033337.2(CAV3): c.10_17delGAAGAGCA (p.Glu4Hisfs)deletionPathogenicrs886044587GRCh37Chr 3, 8775572: 8775579
2CAV3NM_033337.2(CAV3): c.100G> A (p.Glu34Lys)SNVLikely pathogenicrs199476325GRCh37Chr 3, 8775662: 8775662
3CAV3NM_033337.2(CAV3): c.314C> T (p.Pro105Leu)SNVPathogenicrs116840805GRCh37Chr 3, 8787411: 8787411
4CAV3NM_033337.2(CAV3): c.189_197delCACCTTCAC (p.Thr64_Thr66del)deletionPathogenicrs199476331GRCh38Chr 3, 8745600: 8745608
5CAV3NM_033337.2(CAV3): c.84C> A (p.Asp28Glu)SNVPathogenicrs116840782GRCh37Chr 3, 8775646: 8775646
6CAV3NM_033337.2(CAV3): c.136G> A (p.Ala46Thr)SNVPathogenicrs116840789GRCh37Chr 3, 8787233: 8787233
7CAV3NM_033337.2(CAV3): c.80G> A (p.Arg27Gln)SNVPathogenicrs116840778GRCh37Chr 3, 8775642: 8775642

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
1T-tubuleGO:00303159.6CAV3, DYSF
2dystrophin-associated glycoprotein complexGO:00160109.1CAV3, FKRP
3sarcolemmaGO:00423838.2CAV3, DYSF, FKRP

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

idNameGO IDScoreTop Affiliating Genes
1plasma membrane repairGO:00017789.7CAV3, DYSF
2muscle contractionGO:00069369.3CAV3, DYSF
3muscle cell cellular homeostasisGO:00467169.3CAV3, MSTN
4muscle organ developmentGO:00075179.1CAV3, MSTN

Sources for Muscular Dystrophy, Limb-Girdle, Type Ic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet