MCID: MSC112
MIFTS: 32

Muscular Dystrophy, Limb-Girdle, Type 1b malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases categories

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Type 1b

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Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type 1b:

Name: Muscular Dystrophy, Limb-Girdle, Type 1b 49 11 65
Lgmd1b 45 22 47 67
Limb-Girdle Muscular Dystrophy Type 1b 45 22 24
Muscular Dystrophy, Proximal, Type 1b 45
 
Muscular Dystrophy Proximal Type 1b 67
Limb-Girdle Muscular Dystrophy 1b 67
Lgmd 1b 22


Classifications:



External Ids:

OMIM49 159001
MedGen34 C1834653
MeSH36 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Type 1b

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UniProtKB/Swiss-Prot:67 Limb-girdle muscular dystrophy 1B: An autosomal dominant degenerative myopathy with age-related atrioventricular cardiac conduction disturbances, dilated cardiomyopathy, and the absence of early contractures. Characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes.

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 1b, also known as lgmd1b, is related to muscular dystrophy and autosomal dominant limb-girdle muscular dystrophy type 1b, and has symptoms including autosomal dominant inheritance, flexion contracture and dilated cardiomyopathy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 1b is LMNA (Lamin A/C). Affiliated tissues include skeletal muscle.

Description from OMIM:49 159001

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 1b

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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 Limb-Girdle Muscular Dystrophy Type 1d
Limb-Girdle Muscular Dystrophies, Autosomal Dominant Limb-Girdle Muscular Dystrophies, Autosomal Recessive
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy30.6CAV3, LMNA
2autosomal dominant limb-girdle muscular dystrophy type 1b10.7
3limb-girdle muscular dystrophy10.6
4emery-dreifuss muscular dystrophy10.5
5cardiomyopathy10.5
6dilated cardiomyopathy10.4
7muscular dystrophy, limb-girdle, type 1a10.1
8muscular dystrophy, limb-girdle, type 1b9.9CAV3, LMNA
9cartilage disease9.9CAV3, LMNA
10cornelia de lange syndrome9.8CAV3, LMNA
11cardiomyopathy with or without skeletal myopathy9.8CAV3, LMNA
12myeloid leukemia9.8CAV3, LMNA
13myopathy of extraocular muscle9.7CAV3, LMNA

Graphical network of diseases related to Muscular Dystrophy, Limb-Girdle, Type 1b:



Diseases related to muscular dystrophy, limb-girdle, type 1b

Symptoms for Muscular Dystrophy, Limb-Girdle, Type 1b

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Symptoms by clinical synopsis from OMIM:

159001

Clinical features from OMIM:

159001

HPO human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 1b:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 flexion contracture HP:0001371
3 dilated cardiomyopathy HP:0001644
4 sudden cardiac death HP:0001645
5 bradycardia HP:0001662
6 primary atrial arrhythmia HP:0001692
7 difficulty walking HP:0002355
8 elevated serum creatine phosphokinase HP:0003236
9 emg HP:0003458
10 shoulder girdle muscle weakness HP:0003547
11 difficulty climbing stairs HP:0003551
12 muscular dystrophy HP:0003560
13 slow progression HP:0003677
14 pelvic girdle muscle weakness HP:0003749
15 abnormal atrioventricular conduction HP:0005150
16 pelvic girdle amyotrophy HP:0008946

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Type 1b

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCAEnrolling by invitationNCT01976091Phase 1, Phase 2
2Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 1b

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 1b

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Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 1b:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 1b22 LMNA
2 Limb-Girdle Muscular Dystrophy, Type 1b24

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 1b

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MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 1b:

33
Skeletal muscle

Animal Models for Muscular Dystrophy, Limb-Girdle, Type 1b or affiliated genes

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Publications for Muscular Dystrophy, Limb-Girdle, Type 1b

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Variations for Muscular Dystrophy, Limb-Girdle, Type 1b

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 1b:

67
id Symbol AA change Variation ID SNP ID
1LMNAp.Arg377HisVAR_016205
2LMNAp.Arg377LeuVAR_039777
3LMNAp.Tyr481HisVAR_039783

Clinvar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 1b:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.1130G> A (p.Arg377His)single nucleotide variantPathogenicrs61672878GRCh37Chr 1, 156105885: 156105885
2LMNANM_170707.3(LMNA): c.777T> A (p.Tyr259Ter)single nucleotide variantPathogenicrs58048078GRCh37Chr 1, 156104733: 156104733
3LMNANM_170707.3(LMNA): c.1477C> T (p.Gln493Ter)single nucleotide variantPathogenicrs56699480GRCh37Chr 1, 156106808: 156106808
4LMNANM_170707.3(LMNA): c.1072G> A (p.Glu358Lys)single nucleotide variantPathogenicrs60458016GRCh37Chr 1, 156105827: 156105827
5LMNANM_005572.3(LMNA): c.886_887insA (p.Arg296Glnfs)insertionPathogenicrs797044758GRCh37Chr 1, 156105053: 156105054
6LMNANM_170707.3(LMNA): c.810+1G> Csingle nucleotide variantPathogenicrs267607632GRCh37Chr 1, 156104767: 156104767
7LMNANM_005572.3(LMNA): c.673C> T (p.Arg225Ter)single nucleotide variantPathogenicrs60682848GRCh37Chr 1, 156104629: 156104629
8LMNANM_170707.3(LMNA): c.1608+1G> Asingle nucleotide variantPathogenicrs267607592GRCh37Chr 1, 156107024: 156107024
9LMNANM_170707.3(LMNA): c.1608+5G> Csingle nucleotide variantPathogenicrs267607539GRCh37Chr 1, 156107028: 156107028
10LMNANM_170707.3(LMNA): c.1609-3C> Gsingle nucleotide variantLikely pathogenicrs267607581GRCh37Chr 1, 156107442: 156107442
11LMNANM_170707.3(LMNA): c.624_626delGAA (p.Lys208del)deletionPathogenicrs267607540GRCh37Chr 1, 156104304: 156104306

Expression for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 1b

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Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 1b.

Pathways for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 1b

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GO Terms for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 1b

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Biological processes related to Muscular Dystrophy, Limb-Girdle, Type 1b according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.1CAV3, LMNA

Sources for Muscular Dystrophy, Limb-Girdle, Type 1b

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet