MCID: ATS330
MIFTS: 34

Autosomal Dominant Limb-Girdle Muscular Dystrophy

Categories: Muscle diseases, Genetic diseases, Rare diseases, Neuronal diseases, Metabolic 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 29

Classifications:



External Ids:

Disease Ontology 12 DOID:0110273
ICD10 33 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 autosomal dominant limb-girdle muscular dystrophy type 1g and muscular dystrophy, limb-girdle, type 1a. An important gene associated with Autosomal Dominant Limb-Girdle Muscular Dystrophy is LMNA (Lamin A/C), and among its related pathways/superpathways are Proteoglycans in cancer 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, 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 Autosomal Dominant Limb-Girdle Muscular Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant limb-girdle muscular dystrophy type 1g 33.4 DNAJB6 MYOT TNPO3
2 muscular dystrophy, limb-girdle, type 1a 33.0 CAV3 FLNC MYOT
3 autosomal dominant limb-girdle muscular dystrophy type 1c 32.8 CAV3 DNAJB6 MYOT TNPO3
4 muscular dystrophy, limb-girdle, type 1h 32.6 DNAJB6 MYOT TNPO3
5 muscular dystrophy, limb-girdle, type 1e 32.1 CAV3 DNAJB6 MYOT TNPO3
6 muscular dystrophy, limb-girdle, type 1f 32.0 CAV3 DNAJB6 MYOT TNPO3
7 muscular dystrophy, limb-girdle, type 1b 31.2 CAV3 DNAJB6 EMD LMNA TNPO3
8 limb-girdle muscular dystrophy 28.9 CAV3 DNAJB6 FLNC LMNA MYOT TNPO3
9 muscular dystrophy 27.8 CAV3 DNAJB6 EMD FLNC LMNA MYOT
10 limb-girdle muscular dystrophy, type 1g 11.9
11 muscular dystrophy, limb-girdle, type 1c 11.4
12 muscular dystrophy-dystroglycanopathy , type b, 5 10.4 CAV3 LMNA
13 paget's disease of bone 10.3
14 muscular dystrophy, limb-girdle, type 2b 10.2 CAV3 MYOT
15 emerinopathy 10.2 EMD LMNA
16 cardiomyopathy, dilated, 1h 10.2 EMD LMNA
17 myopathy, myofibrillar, 2 10.2 FLNC MYOT
18 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.2 EMD LMNA
19 distal muscular dystrophy 10.2 CAV3 MYOT
20 myopathy, proximal, and ophthalmoplegia 10.2 EMD LMNA
21 pelger-huet anomaly 10.2 EMD LMNA
22 muscular dystrophy, limb-girdle, type 2q 10.2 DNAJB6 TNPO3
23 cardiomyopathy, dilated, 1a 10.1 EMD LMNA
24 familial partial lipodystrophy 10.1 EMD LMNA
25 muscular dystrophy, congenital, lmna-related 10.0 EMD LMNA
26 autosomal genetic disease 10.0 FLNC LMNA
27 partial lipodystrophy 9.9 CAV1 LMNA
28 emery-dreifuss muscular dystrophy 9.9 EMD LMNA
29 myopathy, tubular aggregate, 1 9.9 EMD FLNC
30 hypertrophic cardiomyopathy 9.9 CAV3 FLNC LMNA
31 congenital generalized lipodystrophy 9.9 CAV1 LMNA
32 congenital fiber-type disproportion 9.8 EMD LMNA
33 myopathy, myofibrillar, 3 9.8 DNAJB6 FLNC MYOT
34 myofibrillar myopathy 9.8 DNAJB6 FLNC MYOT
35 werner syndrome 9.7 LMNA VCP
36 atrial standstill 1 9.6 EMD LMNA MYOT
37 myopathy, spheroid body 9.3 DNAJB6 FLNC MYOT VCP
38 muscle tissue disease 9.2 CAV3 EMD LMNA MYOT
39 myopathy 7.8 CAV3 DNAJB6 EMD FLNC LMNA MYOT

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 9.43 CAV1 CAV3 EMD FLNC LMNA VCP
2 muscle MP:0005369 9.1 CAV1 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 29

Anatomical Context for Autosomal Dominant Limb-Girdle Muscular Dystrophy

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

41
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
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. ( 20116073 )
2010
2
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. ( 20068593 )
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
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. ( 11252708 )
2000
11
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). ( 10814726 )
2000
12
Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture. ( 10478586 )
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
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. ( 9973293 )
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 11.64 CAV1 CAV3 FLNC
2 11.51 CAV1 EMD FLNC LMNA VCP
3 11.19 CAV1 CAV3
4
Show member pathways
10.78 EMD LMNA
5 10.3 CAV1 CAV3

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 9.92 CAV1 CAV3 DNAJB6 EMD FLNC MYOT
2 nuclear membrane GO:0031965 9.43 EMD LMNA TNPO3
3 caveola GO:0005901 9.37 CAV1 CAV3
4 Z disc GO:0030018 9.26 CAV3 DNAJB6 FLNC MYOT
5 VCP-NPL4-UFD1 AAA ATPase complex GO:0034098 9.16 CAV1 VCP
6 sarcolemma GO:0042383 8.92 CAV1 CAV3 FLNC MYOT

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.54 CAV3 EMD MYOT
2 mitotic nuclear envelope disassembly GO:0007077 9.48 EMD LMNA
3 negative regulation of MAP kinase activity GO:0043407 9.46 CAV1 CAV3
4 triglyceride metabolic process GO:0006641 9.43 CAV1 CAV3
5 negative regulation of MAPK cascade GO:0043409 9.4 CAV1 CAV3
6 negative regulation of nitric-oxide synthase activity GO:0051001 9.32 CAV1 CAV3
7 mitotic nuclear envelope reassembly GO:0007084 9.26 EMD LMNA
8 negative regulation of potassium ion transmembrane transport GO:1901380 9.16 CAV1 CAV3
9 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 8.96 CAV1 CAV3
10 caveola assembly GO:0070836 8.62 CAV1 CAV3

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 scaffold activity GO:0032947 9.16 CAV1 CAV3
2 structural molecule activity GO:0005198 9.13 CAV1 CAV3 LMNA
3 nitric-oxide synthase binding GO:0050998 8.62 CAV1 CAV3

Sources for Autosomal Dominant Limb-Girdle Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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