LGMD1C
MCID: MSC049
MIFTS: 36

Muscular Dystrophy, Limb-Girdle, Type Ic (LGMD1C) malady

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type Ic 54 13
Muscular Dystrophy, Limb-Girdle, Type 1c 54 69
Limb-Girdle Muscular Dystrophy 1c 66 29
Lgmd1c 56 66
Limb-Girdle Muscular Dystrophy Due to Caveolin-3 Deficiency 56
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 56

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;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 607801
Orphanet 56 ORPHA265
ICD10 via Orphanet 34 G71.0
MedGen 40 C1832567
MeSH 42 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Type Ic

UniProtKB/Swiss-Prot : 66 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 muscular dystrophy, limb-girdle, type 1c, is related to autosomal dominant limb-girdle muscular dystrophy type 1c and rippling muscle disease, and has symptoms including myalgia, elevated serum creatine phosphokinase 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. Related phenotypes are immune system and muscle

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 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 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Limb-Girdle Muscular Dystrophy 2z

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

(show all 30)
id Related Disease Score Top Affiliating Genes
1 autosomal dominant limb-girdle muscular dystrophy type 1c 32.0 DYSF FKRP
2 rippling muscle disease 31.2 CAV3 DYSF FKRP MSTN
3 muscular dystrophy 10.2
4 limb-girdle muscular dystrophy 10.2
5 ptosis 10.1 CAV3 DYSF
6 creatine phosphokinase, elevated serum 10.0 CAV3 DYSF
7 lyme disease 10.0 CAV3 DYSF
8 short-rib thoracic dysplasia 8 with or without polydactyly 9.9 CAV3 FKRP
9 malignant hyperthermia susceptibility 9.9 CAV3 DYSF
10 myopathy, spheroid body 9.9 CAV3 FKRP
11 congenital heart defects, multiple types, 3 9.9 DYSF FKRP
12 deafness, autosomal recessive 18b 9.9 DYSF FKRP
13 glycogen storage disease 0, muscle 9.9 CAV3 FKRP
14 asthma-related traits 6 9.9 DYSF FKRP
15 vulvar eccrine adenocarcinoma 9.9 DYSF MSTN
16 spindle cell sarcoma 9.9 CAV3 DYSF
17 autosomal recessive limb-girdle muscular dystrophy type 2x 9.9 DYSF FKRP
18 neurodegeneration with brain iron accumulation 6 9.9 DYSF FKRP
19 charcot-marie-tooth disease, type 2b2 9.9 DYSF FKRP
20 spinocerebellar ataxia 11 9.9 DYSF FKRP
21 allergic bronchopulmonary aspergillosis, familial 9.9 DYSF MSTN
22 thrombocytopenia, x-linked 9.9 DYSF FKRP
23 hypereosinophilic syndrome, idiopathic, resistant to imatinib 9.8 DYSF FKRP
24 immunodeficiency 34, mycobacteriosis, x-linked 9.8 CAV3 MSTN
25 autosomal recessive limb-girdle muscular dystrophy type 2w 9.7 CAV3 DYSF FKRP
26 myopathy, distal, with anterior tibial onset 9.7 CAV3 DYSF FKRP
27 autosomal recessive limb-girdle muscular dystrophy type 2h 9.7 CAV3 DYSF FKRP
28 central corneal ulcer 9.7 CAV3 DYSF FKRP
29 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 9.5 CAV3 DYSF FKRP MSTN
30 cerebral angioma 9.5 CAV3 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 & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type Ic

Symptoms by clinical synopsis from OMIM:

607801

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 myalgia 32 HP:0003326
2 elevated serum creatine phosphokinase 32 HP:0003236
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 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 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 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

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

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:

66
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 GRCh37 Chromosome 3, 8787286: 8787294
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 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 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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