MCID: ATS330
MIFTS: 32

Autosomal Dominant Limb-Girdle Muscular Dystrophy

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 15
Limb-Girdle Muscular Dystrophies, Autosomal Dominant 30

Classifications:



External Ids:

Disease Ontology 12 DOID:0110273
ICD10 34 G71.0

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 dystrophies, autosomal dominant, is related to muscular dystrophy, limb-girdle, type 1h and emery-dreifuss muscular dystrophy 2, autosomal dominant. An important gene associated with Autosomal Dominant Limb-Girdle Muscular Dystrophy is LMNA (Lamin A/C), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Cytoskeletal Signaling. Affiliated tissues include bone, 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
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

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 1h 33.5 DNAJB6 TNPO3
2 emery-dreifuss muscular dystrophy 2, autosomal dominant 33.3 EMD LMNA
3 myopathy, myofibrillar, 3 33.1 DNAJB6 FLNC
4 muscular dystrophy, limb-girdle, autosomal dominant 1 33.0 CAV3 DNAJB6 TNPO3
5 limb-girdle muscular dystrophy 29.9 CAPN3 CAV3 DNAJB6 FLNC LMNA TNPO3
6 muscular dystrophy 29.0 CAPN3 CAV3 DNAJB6 EMD FLNC LMNA
7 muscular dystrophy, limb-girdle, autosomal dominant 2 12.5
8 muscular dystrophy, limb-girdle, autosomal dominant 3 12.5
9 rippling muscle disease 2 12.0
10 muscular dystrophy, limb-girdle, autosomal dominant 4 11.5
11 limb-girdle muscular dystrophy type 1c 11.5
12 limb-girdle muscular dystrophy type 1a 11.4
13 limb-girdle muscular dystrophy type 1b 10.5
14 paget's disease of bone 10.5
15 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 10.3
16 mammary paget's disease 10.3
17 autosomal recessive limb-girdle muscular dystrophy 10.2 CAPN3 CAV3
18 isolated hyperckemia 10.2 CAPN3 CAV3
19 lipodystrophy, congenital generalized, type 4 10.2 CAV3 LMNA
20 autosomal recessive limb-girdle muscular dystrophy type 2b 10.2 CAPN3 CAV3
21 emerinopathy 10.2 EMD LMNA
22 cardiomyopathy, dilated, 1h 10.2 EMD LMNA
23 muscular dystrophy-dystroglycanopathy , type b, 5 10.2 CAV3 LMNA
24 ullrich congenital muscular dystrophy 1 10.2 CAPN3 LMNA
25 myopathy, proximal, and ophthalmoplegia 10.2 EMD LMNA
26 emery-dreifuss muscular dystrophy 10.2 EMD LMNA
27 emery-dreifuss muscular dystrophy 1, x-linked 10.1 EMD LMNA
28 bethlem myopathy 1 10.1 CAPN3 LMNA
29 pelger-huet anomaly 10.1 EMD LMNA
30 cardiomyopathy, dilated, 1a 10.1 EMD LMNA
31 miyoshi muscular dystrophy 10.1 CAPN3 CAV3
32 familial partial lipodystrophy 10.1 EMD LMNA
33 muscular dystrophy, limb-girdle, autosomal recessive 2 10.1 CAPN3 CAV3
34 autosomal recessive limb-girdle muscular dystrophy type 2a 10.1 CAPN3 DNAJB6
35 myopathy, tubular aggregate, 1 10.0 EMD FLNC
36 muscular dystrophy, congenital, lmna-related 10.0 EMD LMNA
37 congenital fiber-type disproportion 10.0 EMD LMNA
38 werner syndrome 10.0 LMNA VCP
39 neuromuscular disease 9.9 EMD LMNA
40 myofibrillar myopathy 9.9 DNAJB6 FLNC LMNA
41 autosomal recessive limb-girdle muscular dystrophy type 2q 9.8 DNAJB6 TNPO3
42 atrial standstill 1 9.8 EMD LMNA
43 myopathy, spheroid body 9.8 DNAJB6 FLNC VCP
44 muscle tissue disease 9.7 CAPN3 CAV3 EMD LMNA
45 myopathy 9.4 CAPN3 CAV3 EMD FLNC VCP
46 muscular disease 8.8 CAPN3 CAV3 DNAJB6 EMD FLNC LMNA

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 CAPN3 CAV3 EMD FLNC LMNA VCP
2 muscle MP:0005369 9.1 CAPN3 CAV3 EMD FLNC LMNA VCP

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 Dystrophies, Autosomal Dominant 30

Anatomical Context for Autosomal Dominant Limb-Girdle Muscular Dystrophy

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

42
Bone

Publications for Autosomal Dominant Limb-Girdle Muscular Dystrophy

Articles related to Autosomal Dominant Limb-Girdle Muscular Dystrophy:

(show all 23)
# Title Authors Year
1
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. ( 20068593 )
2010
2
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. ( 20116073 )
2010
3
The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy. ( 20682716 )
2010
4
[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]. ( 15678000 )
2005
5
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). ( 14673599 )
2004
6
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. ( 15367920 )
2004
7
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. ( 12913210 )
2003
8
Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation. ( 11222786 )
2001
9
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. ( 11525883 )
2001
10
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). ( 10814726 )
2000
11
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. ( 11252708 )
2000
12
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. ( 9973293 )
1999
13
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. ( 10464299 )
1999
14
Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture. ( 10478586 )
1999
15
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. ( 9529338 )
1998
16
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. ( 9537420 )
1998
17
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. ( 9598725 )
1998
18
Childhood-onset autosomal-dominant limb-girdle muscular dystrophy with cardiac conduction block. ( 9052806 )
1997
19
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. ( 9106535 )
1997
20
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. ( 8619549 )
1996
21
Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. ( 8533766 )
1995
22
Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. ( 3275904 )
1988
23
Adult-onset autosomal dominant limb-girdle muscular dystrophy. ( 3752967 )
1986

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
Show member pathways
11.74 CAPN3 EMD LMNA
2 11.41 EMD FLNC LMNA VCP
3
Show member pathways
10.47 EMD LMNA

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 T-tubule GO:0030315 8.96 CAPN3 CAV3
2 Z disc GO:0030018 8.92 CAPN3 CAV3 DNAJB6 FLNC

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

# Name GO ID Score Top Affiliating Genes
1 protein import into nucleus GO:0006606 9.32 LMNA TNPO3
2 protein localization to nucleus GO:0034504 9.26 DNAJB6 LMNA
3 muscle cell cellular homeostasis GO:0046716 9.16 CAPN3 CAV3
4 muscle organ development GO:0007517 9.13 CAPN3 CAV3 EMD
5 mitotic nuclear envelope reassembly GO:0007084 8.62 EMD LMNA

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 binding GO:0005515 9.56 CAPN3 CAV3 DNAJB6 EMD FLNC LMNA
2 protein-containing complex scaffold activity GO:0032947 8.62 CAPN3 CAV3

Sources for Autosomal Dominant Limb-Girdle Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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