MCID: ATS330
MIFTS: 32

Autosomal Dominant Limb-Girdle Muscular Dystrophy

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

Aliases & Classifications for Autosomal Dominant Limb-Girdle Muscular Dystrophy

MalaCards integrated aliases for Autosomal Dominant Limb-Girdle Muscular Dystrophy:

Name: Autosomal Dominant Limb-Girdle Muscular Dystrophy 12 58 15
Limb-Girdle Muscular Dystrophy Autosomal Dominant 29

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110273
ICD10 32 G71.0
ICD10 via Orphanet 33 G71.0
Orphanet 58 ORPHA102014

Summaries for Autosomal Dominant Limb-Girdle Muscular Dystrophy

Disease Ontology : 12 A limb-girdle muscular dystrophy that has material basis in autosomal dominant inheritance.

MalaCards based summary : Autosomal Dominant Limb-Girdle Muscular Dystrophy, also known as limb-girdle muscular dystrophy autosomal dominant, is related to muscular dystrophy, limb-girdle, autosomal dominant 3 and muscular dystrophy, limb-girdle, type 1h. An important gene associated with Autosomal Dominant Limb-Girdle Muscular Dystrophy is LMNA (Lamin A/C), and among its related pathways/superpathways are Cytoskeletal Signaling and Cellular response to heat stress. Affiliated tissues include bone, endothelial and heart, and related phenotypes are cardiovascular system and muscle

Related Diseases for Autosomal Dominant Limb-Girdle Muscular Dystrophy

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Autosomal Dominant Limb-Girdle Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal dominant 3 32.7 TNPO3 MYOT HNRNPDL DNAJB6 CAV3
2 muscular dystrophy, limb-girdle, type 1h 32.6 TNPO3 MYOT LGMD1H DNAJB6 CAV3
3 emery-dreifuss muscular dystrophy 2, autosomal dominant 32.5 LMNA EMD CAPN3
4 muscular dystrophy, limb-girdle, autosomal dominant 2 32.2 TNPO3 TCAP MYOT LMNA DNAJB6 CAV3
5 limb-girdle muscular dystrophy type 1a 31.7 TCAP MYOT FLNC CAV3 CAPN3
6 myopathy, myofibrillar, 3 31.5 TCAP MYOT FLNC DNAJB6 CAPN3 BAG3
7 limb-girdle muscular dystrophy type 1b 31.5 LMNA CAV3
8 muscular dystrophy, limb-girdle, autosomal dominant 1 31.2 TNPO3 RNF32 MYOT DNAJB6 DNAJB1 CAV3
9 limb-girdle muscular dystrophy 31.0 TCAP MYOT LMNA CAV3 CAPN3
10 paget's disease of bone 30.8 VCP HNRNPA1 FLNC
11 emery-dreifuss muscular dystrophy 30.7 MYOT LMNA EMD CAPN3
12 facioscapulohumeral muscular dystrophy 1 30.3 MYOT LMNA CAV3 CAPN3
13 myopathy, myofibrillar, 5 30.2 MYOT FLNC BAG3
14 long qt syndrome 30.0 TCAP LMNA CAV3 BAG3
15 dilated cardiomyopathy 29.5 TCAP MYOT LMNA FLNC EMD BAG3
16 neuromuscular disease 29.5 VCP TCAP MYOT LMNA EMD CAV3
17 muscular dystrophy 28.3 VCP TNPO3 TCAP MYOT LMNA LGMD1H
18 myopathy 27.9 VCP TNPO3 TCAP MYOT LMNA HNRNPDL
19 muscular dystrophy, limb-girdle, autosomal dominant 4 11.6
20 rippling muscle disease 2 11.5
21 limb-girdle muscular dystrophy type 1c 11.5
22 lmna-related dilated cardiomyopathy 10.5
23 charcot-marie-tooth disease, axonal, type 2e 10.4
24 brugada syndrome 10.4
25 emerinopathy 10.3 LMNA EMD
26 x-linked emery-dreifuss muscular dystrophy 10.3 LMNA EMD
27 first-degree atrioventricular block 10.3 LMNA EMD
28 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.3 LMNA EMD
29 lipodystrophy, congenital generalized, type 4 10.2 CAV3 CAV1
30 cardiac arrhythmia 10.2
31 cardiac conduction defect 10.2
32 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 10.2
33 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.2
34 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 10.2
35 familial partial lipodystrophy 10.2
36 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.2
37 dementia 10.2
38 mammary paget's disease 10.2
39 myotonic dystrophy 10.2
40 laminopathy 10.2 LMNA EMD
41 progressive muscular atrophy 10.2 VCP CAV3 CAPN3
42 emery-dreifuss muscular dystrophy 3, autosomal recessive 10.2 LMNA EMD
43 emery-dreifuss muscular dystrophy 4, autosomal dominant 10.2 LMNA EMD
44 autosomal recessive limb-girdle muscular dystrophy type 2x 10.2 MYOT CAV3
45 autosomal recessive limb-girdle muscular dystrophy type 2w 10.2 TNPO3 MYOT
46 charcot-marie-tooth disease, axonal, type 2b1 10.2 LMNA EMD
47 autosomal recessive limb-girdle muscular dystrophy type 2l 10.2 MYOT CAPN3
48 emery-dreifuss muscular dystrophy 1, x-linked 10.2 LMNA EMD
49 complete generalized lipodystrophy 10.2 LMNA CAV1
50 congenital generalized lipodystrophy 10.1 LMNA CAV3 CAV1

Graphical network of the top 20 diseases related to Autosomal Dominant Limb-Girdle Muscular Dystrophy:



Diseases related to Autosomal Dominant Limb-Girdle Muscular Dystrophy

Symptoms & Phenotypes for Autosomal Dominant Limb-Girdle Muscular Dystrophy

MGI Mouse Phenotypes related to Autosomal Dominant Limb-Girdle Muscular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.61 BAG3 CAPN3 CAV1 CAV3 EMD FLNC
2 muscle MP:0005369 9.28 BAG3 CAPN3 CAV1 CAV3 EMD FLNC

Drugs & Therapeutics for Autosomal Dominant Limb-Girdle Muscular Dystrophy

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Limb-Girdle Muscular Dystrophy

Genetic Tests for Autosomal Dominant Limb-Girdle Muscular Dystrophy

Genetic tests related to Autosomal Dominant Limb-Girdle Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Autosomal Dominant 29

Anatomical Context for Autosomal Dominant Limb-Girdle Muscular Dystrophy

MalaCards organs/tissues related to Autosomal Dominant Limb-Girdle Muscular Dystrophy:

40
Bone, Endothelial, Heart

Publications for Autosomal Dominant Limb-Girdle Muscular Dystrophy

Articles related to Autosomal Dominant Limb-Girdle Muscular Dystrophy:

(show top 50) (show all 51)
# Title Authors PMID Year
1
Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type. 61
31034989 2020
2
HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes. 61
31267206 2019
3
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F. 61
31071488 2019
4
DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies. 61
27747217 2016
5
Collagen type VI myopathies. 61
24443028 2014
6
A family with 2 different hereditary diseases leading to early cardiac involvement. 61
23703017 2013
7
An inhibitor of transforming growth factor beta type I receptor ameliorates muscle atrophy in a mouse model of caveolin 3-deficient muscular dystrophy. 61
22584670 2012
8
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. 61
22334415 2012
9
Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered. 61
23155419 2012
10
Endoplasmic reticulum stress response in P104L mutant caveolin-3 transgenic mice. 61
21610159 2011
11
Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus. 61
21376592 2011
12
The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy. 61
20682716 2010
13
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. 61
20068593 2010
14
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. 61
20116073 2010
15
Myofibrillar myopathy with limb-girdle phenotype in a Thai patient. 61
19253808 2009
16
Caveolin-3 regulates myostatin signaling. Mini-review. 61
19108573 2008
17
Muscular atrophy of caveolin-3-deficient mice is rescued by myostatin inhibition. 61
17039257 2006
18
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. 61
16730439 2006
19
[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]. 61
15678000 2005
20
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. 61
15367920 2004
21
Pathological changes of the myonuclear fibrous lamina and internal nuclear membrane in two cases of autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbance (LGMD1B). 61
14673599 2004
22
Overexpression of P104L mutant caveolin-3 in mice develops hypertrophic cardiomyopathy with enhanced contractility in association with increased endothelial nitric oxide synthase activity. 61
14645200 2004
23
Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. 61
12899871 2003
24
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. 61
12913210 2003
25
Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. 61
11891683 2002
26
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 61
11865138 2002
27
A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. 61
11525883 2001
28
Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation. 61
11222786 2001
29
Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity. 61
11159934 2001
30
Limb-girdle muscular dystrophy (LGMD-1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation. Treatment with proteasomal inhibitors blocks the dominant negative effect of LGMD-1C mutanta and rescues wild-type caveolin-3. 61
10973975 2000
31
Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin. 61
11038172 2000
32
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. 61
11001938 2000
33
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. 61
11252708 2000
34
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). 61
10814726 2000
35
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 61
10746614 2000
36
Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex. 61
10464299 1999
37
Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture. 61
10478586 1999
38
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. 61
9973293 1999
39
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 61
9537420 1998
40
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. 61
9598725 1998
41
Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy. 61
9529338 1998
42
The heart in limb girdle muscular dystrophy. 61
9505924 1998
43
[A pedigree of autosomal dominant limb-girdle myopathy with rimmed vacuole formation]. 61
9396357 1997
44
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. 61
9106535 1997
45
Childhood-onset autosomal-dominant limb-girdle muscular dystrophy with cardiac conduction block. 61
9052806 1997
46
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. 61
8619549 1996
47
Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. 61
8533766 1995
48
A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33. 61
8188289 1994
49
Early onset autosomal dominant progressive muscular dystrophy presenting in childhood as a Becker phenotype--the importance of dystrophin and molecular genetic analysis. 61
1422199 1992
50
Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. 61
3275904 1988

Variations for Autosomal Dominant Limb-Girdle Muscular Dystrophy

Expression for Autosomal Dominant Limb-Girdle Muscular Dystrophy

Search GEO for disease gene expression data for Autosomal Dominant Limb-Girdle Muscular Dystrophy.

Pathways for Autosomal Dominant Limb-Girdle Muscular Dystrophy

Pathways related to Autosomal Dominant Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.51 VCP LMNA FLNC EMD CAV1
2
Show member pathways
11.49 VCP DNAJB6 DNAJB1 BAG3
3 10.5 CAV3 CAV1

GO Terms for Autosomal Dominant Limb-Girdle Muscular Dystrophy

Cellular components related to Autosomal Dominant Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10 VCP TNPO3 TCAP RNF32 MYOT HNRNPDL
2 sarcolemma GO:0042383 9.26 MYOT FLNC CAV3 CAV1
3 Z disc GO:0030018 9.17 TCAP MYOT FLNC DNAJB6 CAV3 CAPN3

Biological processes related to Autosomal Dominant Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.71 MYOT EMD CAV3
2 regulation of cellular response to heat GO:1900034 9.63 DNAJB6 DNAJB1 BAG3
3 protein folding GO:0006457 9.56 VCP DNAJB6 DNAJB1 BAG3
4 positive regulation of protein export from nucleus GO:0046827 9.55 EMD BAG3
5 negative regulation of nitric-oxide synthase activity GO:0051001 9.52 CAV3 CAV1
6 negative regulation of potassium ion transmembrane transport GO:1901380 9.51 CAV3 CAV1
7 negative regulation of inclusion body assembly GO:0090084 9.49 DNAJB6 DNAJB1
8 mitotic nuclear envelope reassembly GO:0007084 9.48 LMNA EMD
9 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.43 CAV3 CAV1
10 detection of muscle stretch GO:0035995 9.4 TCAP CAV3
11 aggresome assembly GO:0070842 9.37 VCP BAG3
12 caveola assembly GO:0070836 9.32 CAV3 CAV1
13 muscle organ development GO:0007517 9.26 LMNA EMD CAV3 CAPN3
14 negative regulation of transcription from RNA polymerase II promoter in response to stress GO:0097201 9.16 DNAJB1 BAG3
15 muscle cell cellular homeostasis GO:0046716 8.8 CAV3 CAPN3 BAG3

Molecular functions related to Autosomal Dominant Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.73 VCP CAV3 CAV1 BAG3
2 ion channel binding GO:0044325 9.58 TCAP CAV3 CAV1
3 identical protein binding GO:0042802 9.56 VCP TNPO3 LMNA HNRNPA1 FLNC DNAJB6
4 chaperone binding GO:0051087 9.5 DNAJB6 DNAJB1 BAG3
5 ATPase activator activity GO:0001671 9.46 DNAJB6 DNAJB1
6 nitric-oxide synthase binding GO:0050998 9.37 CAV3 CAV1
7 molecular adaptor activity GO:0060090 9.33 CAV3 CAV1 CAPN3
8 titin binding GO:0031432 9.26 TCAP CAPN3
9 structural constituent of muscle GO:0008307 8.8 TCAP MYOT CAPN3

Sources for Autosomal Dominant Limb-Girdle Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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