MCID: ATS329
MIFTS: 35

Autosomal Dominant Limb-Girdle Muscular Dystrophy malady

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

Aliases & Classifications for Autosomal Dominant Limb-Girdle Muscular Dystrophy

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Aliases & Descriptions for Autosomal Dominant Limb-Girdle Muscular Dystrophy:

Name: Autosomal Dominant Limb-Girdle Muscular Dystrophy 11
Limb Girdle Muscular Dystrophies, Autosomal Dominant 24 26
 
Limb-Girdle Muscular Dystrophies, Autosomal Dominant 24
Lgmd, Autosomal Dominant 24

Classifications:



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Disease Ontology11 DOID:0110273
ICD1029 G71.0

Summaries for Autosomal Dominant Limb-Girdle Muscular Dystrophy

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Disease Ontology:11 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 collagen type vi-related autosomal dominant limb-girdle muscular dystrophy and muscular dystrophy, limb-girdle, type 1e. An important gene associated with Autosomal Dominant Limb-Girdle Muscular Dystrophy is MYOT (Myotilin), and among its related pathways are Nuclear Envelope Reassembly and PDGFR-alpha signaling pathway. Affiliated tissues include bone, and related mouse phenotypes are cardiovascular system and muscle.

Related Diseases for Autosomal Dominant Limb-Girdle Muscular Dystrophy

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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 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

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

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1collagen type vi-related autosomal dominant limb-girdle muscular dystrophy12.3
2muscular dystrophy, limb-girdle, type 1e12.1
3muscular dystrophy, limb-girdle, type 1h12.0
4limb-girdle muscular dystrophy, type 1g12.0
5muscular dystrophy, limb-girdle, type 1f12.0
6muscular dystrophy, limb-girdle, type 1a11.9
7muscular dystrophy, limb-girdle, type ic11.9
8muscular dystrophy, limb-girdle, type 1b11.9
9muscular dystrophy10.8
10limb-girdle muscular dystrophy10.8
11linear scleroderma10.3EMD, LMNA
12emery-dreifuss muscular dystrophy 2, ad10.3EMD, LMNA
13atrial standstill, digenic10.2EMD, LMNA
14myostatin-related muscle hypertrophy10.2FLNC, MYOT
15pelger-huet anomaly10.2EMD, LMNA
16tooth agenesis10.2CAV1, LMNA
17myopathy10.1
18paget's disease of bone10.1
19cataract 16, multiple types10.1FLNC, MYOT
20myopathy, spheroid body10.0DNAJB6, MYOT
21myopathy, distal, 410.0FLNC, MYOT
22epilepsy, generalized, with febrile seizures plus, type 110.0FLNC, MYOT
23stormorken syndrome10.0EMD, FLNC
24microcephaly and chorioretinopathy 19.8EMD, LMNA
25classic variant of chromophobe renal cell carcinoma9.8CAV3, EMD, MYOT
26autoimmune thyroid disease 29.5DNAJB6, FLNC, MYOT, VCP
27emery-dreifuss muscular dystrophy9.2CAV3, DNAJB6, LMNA, MYOT, TNPO3
28median arcuate ligament syndrome8.8CAV3, DNAJB6, EMD, LMNA, MYOT, TNPO3

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 for Autosomal Dominant Limb-Girdle Muscular Dystrophy

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Drugs & Therapeutics for Autosomal Dominant Limb-Girdle Muscular Dystrophy

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Interventional clinical trials:

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

Genetic Tests for Autosomal Dominant Limb-Girdle Muscular Dystrophy

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophies, Autosomal Dominant26 24 MYOT

Anatomical Context for Autosomal Dominant Limb-Girdle Muscular Dystrophy

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

35
Bone

Animal Models for Autosomal Dominant Limb-Girdle Muscular Dystrophy or affiliated genes

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

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.9CAV1, CAV3, EMD, FLNC, LMNA, VCP
2MP:00053698.2CAV1, CAV3, EMD, FLNC, LMNA, VCP

Publications for Autosomal Dominant Limb-Girdle Muscular Dystrophy

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Articles related to Autosomal Dominant Limb-Girdle Muscular Dystrophy:

(show all 23)
idTitleAuthorsYear
1
The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy. (20682716)
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
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. (20068593)
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
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. (15367920)
2004
6
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
7
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. (12913210)
2003
8
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
9
Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation. (11222786)
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
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. (9598725)
1998
16
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. (9537420)
1998
17
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
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

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Expression for genes affiliated with Autosomal Dominant Limb-Girdle Muscular Dystrophy

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

Pathways for genes affiliated with Autosomal Dominant Limb-Girdle Muscular Dystrophy

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7EMD, LMNA
29.6CAV1, CAV3
39.3CAV1, CAV3, FLNC
48.5CAV1, EMD, FLNC, LMNA, VCP

GO Terms for genes affiliated with Autosomal Dominant Limb-Girdle Muscular Dystrophy

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

idNameGO IDScoreTop Affiliating Genes
1VCP-NPL4-UFD1 AAA ATPase complexGO:003409810.0CAV1, VCP
2sarcolemmaGO:00423839.4CAV3, FLNC, MYOT
3nuclear membraneGO:00319659.2EMD, LMNA, TNPO3
4Z discGO:00300188.9CAV3, DNAJB6, FLNC, MYOT

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope reassemblyGO:000708410.1EMD, LMNA
2negative regulation of potassium ion transmembrane transportGO:190138010.1CAV1, CAV3
3caveola assemblyGO:007083610.1CAV1, CAV3
4negative regulation of nitric-oxide synthase activityGO:00510019.9CAV1, CAV3
5mitotic nuclear envelope disassemblyGO:00070779.9EMD, LMNA
6negative regulation of MAP kinase activityGO:00434079.8CAV1, CAV3
7negative regulation of MAPK cascadeGO:00434099.8CAV1, CAV3
8positive regulation of microtubule polymerizationGO:00311169.7CAV1, CAV3
9triglyceride metabolic processGO:00066419.6CAV1, CAV3
10muscle contractionGO:00069369.3CAV3, EMD, MYOT
11protein localization to nucleusGO:00345049.3DNAJB6, LMNA

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

idNameGO IDScoreTop Affiliating Genes
1protein complex scaffoldGO:00329479.7CAV1, CAV3
2nitric-oxide synthase bindingGO:00509989.6CAV1, CAV3

Sources for Autosomal Dominant Limb-Girdle Muscular Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet