MCID: MSC049
MIFTS: 37

Muscular Dystrophy, Limb-Girdle, Type Ic

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type Ic 54 50 13
Lgmd1c 12 50 24 56 71 52
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 12 50 56 14
Limb-Girdle Muscular Dystrophy Due to Caveolin-3 Deficiency 12 50 56
Limb-Girdle Muscular Dystrophy Type 1c 50 24
Muscular Dystrophy, Limb-Girdle, Type 1c 69
Limb-Girdle Muscular Dystrophy, Type 1c 29
Muscular Dystrophy Limb-Girdle Type Ic 12
Limb-Girdle Muscular Dystrophy 1c 71
Lgmd 1c 24

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant limb-girdle muscular dystrophy type 1c
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
onset in first decade (average 5 years)
adult onset has been rarely reported
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 ic:
Onset and clinical course childhood onset
Inheritance heterogeneous autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 607801
Disease Ontology 12 DOID:0110302
ICD10 33 G71.0
Orphanet 56 ORPHA265
UMLS via Orphanet 70 C1832567
ICD10 via Orphanet 34 G71.0
MedGen 40 C1832567
MeSH 42 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Type Ic

UniProtKB/Swiss-Prot : 71 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 multiple endocrine neoplasia, and has symptoms including muscular dystrophy, gowers sign and muscle cramps. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type Ic is CAV3 (Caveolin 3), and among its related pathways/superpathways is Smooth Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotype is muscle.

Disease Ontology : 12 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: 607801

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

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2y
Muscular Dystrophy, Limb-Girdle, Type 2b Muscular Dystrophy, Limb-Girdle, Type 2w
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 2z Muscular Dystrophy, Limb-Girdle, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 2x 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 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 Recessive Limb-Girdle Muscular Dystrophy Type 2z

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

(show all 42)
id Related Disease Score Top Affiliating Genes
1 rippling muscle disease 11.2
2 multiple endocrine neoplasia 10.4 CAV3 FKRP
3 metaphyseal chondrodysplasia, murk jansen type 10.3 CAV3 DYSF
4 miyoshi muscular dystrophy 3 10.3 DYSF FKRP
5 acetyl-coa carboxylase deficiency 10.3 DYSF FKRP
6 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.3 DYSF FKRP
7 myopathy, myofibrillar, 3 10.3 CAV3 FKRP
8 cardiomyopathy, hypertrophic, 25 10.3 DYSF FKRP
9 lyme disease 10.3 CAV3 DYSF
10 charcot-marie-tooth disease, type 2b2 10.2 DYSF FKRP
11 autosomal recessive limb-girdle muscular dystrophy type 2h 10.2 DYSF FKRP
12 glycogen storage disease 0, muscle 10.2 CAV3 FKRP
13 muscular dystrophy 10.2
14 limb-girdle muscular dystrophy 10.2
15 hirschsprung disease 5 10.1 FKRP HNRNPDL
16 autosomal recessive limb-girdle muscular dystrophy type 2e 10.1 DYSF FKRP
17 mct8-specific thyroid hormone cell-membrane transporter deficiency 10.1 CAV3 DYSF
18 craniofrontonasal dysplasia 10.1 DYSF FKRP
19 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 CAV3 DYSF FKRP
20 immunodeficiency 34, mycobacteriosis, x-linked 10.0 CAV3 MSTN
21 adult intracranial malignant hemangiopericytoma 9.8 DYSF MSTN
22 muscular dystrophy, limb-girdle, type 2w 9.8 HNRNPDL TNPO3
23 spinal muscular atrophy, distal, autosomal recessive, 5 9.8 HNRNPDL TNPO3
24 muscular dystrophy-dystroglycanopathy , type a, 9 9.8 HNRNPDL TNPO3
25 muscular dystrophy-dystroglycanopathy , type b, 14 9.8 HNRNPDL TNPO3
26 ectodermal dysplasia-syndactyly syndrome 2 9.8 HNRNPDL TNPO3
27 muscular dystrophy-dystroglycanopathy , type c, 3 9.7 HNRNPDL TNPO3
28 neuropathy, hereditary sensory and autonomic, type viii 9.7 HNRNPDL TNPO3
29 alzheimer disease, type 3 9.7 HNRNPDL TNPO3
30 allergic bronchopulmonary aspergillosis, familial 9.6 DYSF MSTN
31 autosomal recessive limb-girdle muscular dystrophy type 2b 9.5 CAV3 DNAJB6 TNPO3
32 peeling skin syndrome 2 9.5 CAV3 DNAJB6 DYSF FKRP
33 eosinophilic variant of chromophobe renal cell carcinoma 9.5 CAV3 DYSF FKRP MSTN
34 chronic atrial and intestinal dysrhythmia 9.3 DNAJB6 HNRNPDL TNPO3
35 dentinogenesis imperfecta, shields type ii 9.3 DNAJB6 HNRNPDL TNPO3
36 epidermolysis bullosa simplex with nail dystrophy 9.3 DNAJB6 HNRNPDL TNPO3
37 clear cell sarcoma 8.9 CAV3 DNAJB6 DYSF FKRP MSTN
38 deafness, autosomal dominant 50 8.9 CAV3 DNAJB6 HNRNPDL TNPO3
39 muscular dystrophy, limb-girdle, type 1b 8.9 CAV3 DNAJB6 HNRNPDL TNPO3
40 schizophrenia 16 8.5 CAV3 DNAJB6 FKRP HNRNPDL TNPO3
41 creatine phosphokinase, elevated serum 7.5 CAV3 DNAJB6 DYSF FKRP HNRNPDL MSTN
42 periodontosis 7.5 CAV3 DNAJB6 DYSF FKRP HNRNPDL 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 & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type Ic

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
increased serum creatine kinase

Muscle Soft Tissue:
muscle cramps
myalgia
proximal muscle weakness
calf hypertrophy
positive gowers sign
more

Clinical features from OMIM:

607801

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

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

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


muscle cramp, myalgia

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 CAV3 DYSF FKRP MSTN

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

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

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

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1c 29
2 Limb-Girdle Muscular Dystrophy Type 1c 24

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

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

39
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Type Ic

Variations for Muscular Dystrophy, Limb-Girdle, Type Ic

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

71
id 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 Ic:

6
id 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.189_197delCACCTTCAC (p.Thr64_Thr66del) deletion Pathogenic rs199476331 GRCh38 Chromosome 3, 8745600: 8745608
3 CAV3 NM_033337.2(CAV3): c.84C> A (p.Asp28Glu) single nucleotide variant Pathogenic rs116840782 GRCh37 Chromosome 3, 8775646: 8775646
4 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh37 Chromosome 3, 8787233: 8787233
5 CAV3 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
6 CAV3 NM_033337.2(CAV3): c.100G> A (p.Glu34Lys) single nucleotide variant Likely pathogenic rs199476325 GRCh37 Chromosome 3, 8775662: 8775662
7 CAV3 NM_033337.2(CAV3): c.10_17delGAAGAGCA (p.Glu4Hisfs) deletion Pathogenic rs886044587 GRCh37 Chromosome 3, 8775572: 8775579

Expression for Muscular Dystrophy, Limb-Girdle, Type Ic

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

Pathways for Muscular Dystrophy, Limb-Girdle, Type Ic

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

id Super pathways Score Top Affiliating Genes
1 10.18 CAV3 DYSF

GO Terms for Muscular Dystrophy, Limb-Girdle, Type Ic

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

id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.26 CAV3 DNAJB6
2 T-tubule GO:0030315 9.16 CAV3 DYSF
3 dystrophin-associated glycoprotein complex GO:0016010 8.96 CAV3 FKRP
4 sarcolemma GO:0042383 8.8 CAV3 DYSF FKRP

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

id 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 Ic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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