MCID: MSC161
MIFTS: 35

Muscular Dystrophy, Limb-Girdle, Type 1c

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

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

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 1c:

Name: Muscular Dystrophy, Limb-Girdle, Type 1c 57 73
Lgmd1c 57 59 75 55
Muscular Dystrophy, Limb-Girdle, Type Ic 57 13
Limb-Girdle Muscular Dystrophy, Type 1c 29 6
Limb-Girdle Muscular Dystrophy Due to Caveolin-3 Deficiency 59
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 59
Dystrophy, Muscular, Limb-Girdle, Type 1c 40
Limb-Girdle Muscular Dystrophy 1c 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant limb-girdle muscular dystrophy type 1c
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
adult onset has been rarely reported
onset in first decade (average 5 years)
both autosomal dominant and autosomal recessive inheritance has been described
genetic heterogeneity (see lgmd1a, )
allelic disorder to rippling muscle disease (rmd, )


HPO:

32
muscular dystrophy, limb-girdle, type 1c:
Onset and clinical course childhood onset
Inheritance heterogeneous autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607801
Orphanet 59 ORPHA265
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C1832567
MedGen 42 C1832567
MeSH 44 D049288
UMLS 73 C1832567

Summaries for Muscular Dystrophy, Limb-Girdle, Type 1c

UniProtKB/Swiss-Prot : 75 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 1c, also known as lgmd1c, is related to rippling muscle disease 2 and autosomal dominant limb-girdle muscular dystrophy type 1c, and has symptoms including muscle cramp and myalgia. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 1c is CAV3 (Caveolin 3), and among its related pathways/superpathways is Smooth Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are elevated serum creatine phosphokinase and myalgia

Description from OMIM: 607801

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 1c

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 1c via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 rippling muscle disease 2 31.8 CAV3 DYSF
2 autosomal dominant limb-girdle muscular dystrophy type 1c 30.6 CAV3 DYSF FKRP
3 limb-girdle muscular dystrophy 28.8 CAV3 DYSF FKRP
4 muscular dystrophy 27.9 CAV3 DYSF FKRP MSTN
5 autosomal recessive limb-girdle muscular dystrophy type 2b 9.9 CAV3 DYSF
6 isolated hyperckemia 9.7 CAV3 FKRP
7 distal muscular dystrophy 9.7 CAV3 DYSF
8 muscular dystrophy, limb-girdle, type 1e 9.6 CAV3 FKRP
9 autosomal recessive limb-girdle muscular dystrophy type 2h 9.6 DYSF FKRP
10 muscular dystrophy, limb-girdle, type 2l 9.6 DYSF FKRP
11 muscular dystrophy, limb-girdle, type 1a 9.6 CAV3 FKRP
12 muscular dystrophy, limb-girdle, type 2h 9.5 DYSF FKRP
13 muscular dystrophy, limb-girdle, type 2d 9.5 DYSF FKRP
14 muscular dystrophy, limb-girdle, type 2g 9.5 DYSF FKRP
15 muscular dystrophy, limb-girdle, type 2f 9.4 DYSF FKRP
16 muscular dystrophy-dystroglycanopathy , type c, 5 9.4 DYSF FKRP
17 muscular dystrophy-dystroglycanopathy , type b, 5 9.3 CAV3 FKRP
18 myositis 9.2 DYSF MSTN
19 autosomal recessive limb-girdle muscular dystrophy 9.1 DYSF FKRP
20 muscular dystrophy, limb-girdle, type 2b 9.0 CAV3 DYSF FKRP
21 muscle tissue disease 8.4 CAV3 DYSF FKRP MSTN
22 myopathy 8.4 CAV3 DYSF FKRP MSTN

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type 1c:



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 1c

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 1c

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
myalgia
muscle cramps
proximal muscle weakness
calf hypertrophy
positive gowers sign
more
Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

607801

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 1c:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 32 HP:0003236
2 myalgia 32 HP:0003326
3 muscle cramps 32 HP:0003394
4 muscular dystrophy 32 HP:0003560
5 calf muscle hypertrophy 32 HP:0008981
6 gowers sign 32 HP:0003391

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Type 1c:


muscle cramp, myalgia

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 1c:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.26 CAV3 DYSF FKRP MSTN
2 muscle MP:0005369 8.92 CAV3 DYSF FKRP MSTN

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

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

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 1c

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 1c:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1c 29 CAV3

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 1c

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 1c:

41
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Type 1c

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

# Title Authors Year
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 Muscular Dystrophy, Limb-Girdle, Type 1c

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

75
# Symbol AA change Variation ID SNP ID
1 CAV3 p.Pro105Leu VAR_001403 rs116840805
2 CAV3 p.Arg27Gln VAR_011512 rs116840778
3 CAV3 p.Ala46Thr VAR_011513 rs116840789
4 CAV3 p.Asp28Glu VAR_015374 rs116840782
5 CAV3 p.Asn33Lys VAR_021016 rs1008642
6 CAV3 p.Val44Glu VAR_021017 rs116840788
7 CAV3 p.Thr64Pro VAR_021018 rs199476332

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

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAV3 NM_033337.2(CAV3): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs116840805 GRCh37 Chromosome 3, 8787411: 8787411
2 CAV3 NM_033337.2(CAV3): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs116840805 GRCh38 Chromosome 3, 8745725: 8745725
3 CAV3 NM_033337.2(CAV3): c.189_197delCACCTTCAC (p.Thr64_Thr66del) deletion Pathogenic rs199476331 GRCh38 Chromosome 3, 8745600: 8745608
4 CAV3 NM_033337.2(CAV3): c.189_197delCACCTTCAC (p.Thr64_Thr66del) deletion Pathogenic rs199476331 GRCh37 Chromosome 3, 8787286: 8787294
5 CAV3 NM_033337.2(CAV3): c.84C> A (p.Asp28Glu) single nucleotide variant Pathogenic rs116840782 GRCh37 Chromosome 3, 8775646: 8775646
6 CAV3 NM_033337.2(CAV3): c.84C> A (p.Asp28Glu) single nucleotide variant Pathogenic rs116840782 GRCh38 Chromosome 3, 8733960: 8733960
7 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh37 Chromosome 3, 8787233: 8787233
8 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh38 Chromosome 3, 8745547: 8745547
9 CAV3 NM_033337.2(CAV3): c.137C> T (p.Ala46Val) single nucleotide variant Likely pathogenic rs116840773 GRCh37 Chromosome 3, 8787234: 8787234
10 CAV3 NM_033337.2(CAV3): c.137C> T (p.Ala46Val) single nucleotide variant Likely pathogenic rs116840773 GRCh38 Chromosome 3, 8745548: 8745548
11 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
12 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh38 Chromosome 3, 8733956: 8733956
13 CAV3 NM_033337.2(CAV3): c.301T> C (p.Trp101Arg) single nucleotide variant Pathogenic rs199476337 GRCh37 Chromosome 3, 8787398: 8787398
14 CAV3 NM_033337.2(CAV3): c.301T> C (p.Trp101Arg) single nucleotide variant Pathogenic rs199476337 GRCh38 Chromosome 3, 8745712: 8745712
15 CAV3 NM_033337.2(CAV3): c.10_17delGAAGAGCA (p.Glu4Hisfs) deletion Pathogenic rs886044587 GRCh37 Chromosome 3, 8775572: 8775579
16 CAV3 NM_033337.2(CAV3): c.10_17delGAAGAGCA (p.Glu4Hisfs) deletion Pathogenic rs886044587 GRCh38 Chromosome 3, 8733886: 8733893
17 CAV3 NM_033337.2(CAV3): c.366delAinsAA (p.Leu123Thrfs) indel Likely pathogenic GRCh37 Chromosome 3, 8787463: 8787463
18 CAV3 NM_033337.2(CAV3): c.366delAinsAA (p.Leu123Thrfs) indel Likely pathogenic GRCh38 Chromosome 3, 8745777: 8745777

Expression for Muscular Dystrophy, Limb-Girdle, Type 1c

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 1c.

Pathways for Muscular Dystrophy, Limb-Girdle, Type 1c

Pathways related to Muscular Dystrophy, Limb-Girdle, Type 1c according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.18 CAV3 DYSF

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 1c

Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 1c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.16 CAV3 DYSF
2 dystrophin-associated glycoprotein complex GO:0016010 8.96 CAV3 FKRP
3 sarcolemma GO:0042383 8.8 CAV3 DYSF FKRP

Biological processes related to Muscular Dystrophy, Limb-Girdle, Type 1c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.26 CAV3 DYSF
2 muscle organ development GO:0007517 9.16 CAV3 MSTN
3 muscle cell cellular homeostasis GO:0046716 8.96 CAV3 MSTN
4 plasma membrane repair GO:0001778 8.62 CAV3 DYSF

Sources for Muscular Dystrophy, Limb-Girdle, Type 1c

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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