MCID: MSC112
MIFTS: 29

Muscular Dystrophy, Limb-Girdle, Type 1b malady

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

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

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MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 1b, also known as limb-girdle muscular dystrophy, type 1b, is related to limb-girdle muscular dystrophy and muscular dystrophy, 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).

Description from OMIM:47 159001

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

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 24GTR, 49Orphanet, 45Novoseek, 28ICD10 via Orphanet
See all sources

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

Name: Muscular Dystrophy, Limb-Girdle, Type 1b 47 11
Limb-Girdle Muscular Dystrophy, Type 1b 43 22 24
Lgmd1b 43 45 49
 
Limb-Girdle Muscular Dystrophy Due to Lamin a/c Deficiency 43 49
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b 43 49
Muscular Dystrophy, Proximal, Type 1b 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
lgmd1b:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM47 159001
Orphanet49 264
ICD10 via Orphanet28 G71.0

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 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
Muscular Dystrophy, Limb-Girdle, Type Ic Limb-Girdle Muscular Dystrophies, Autosomal Dominant
Limb-Girdle Muscular Dystrophy Type 1d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k

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

idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy10.6
2muscular dystrophy10.6
3emery-dreifuss muscular dystrophy10.5
4muscular dystrophy, limb-girdle, type 1a10.1

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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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy, Limb-Girdle, Type 1b

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
2 Limb-Girdle Muscular Dystrophy, Type 1b24

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

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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:

64
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:

7
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_005572.3(LMNA): c.1130G> A (p.Arg377His)single nucleotide variantPathogenicrs61672878GRCh37Chr 1, 156105885: 156105885
2LMNALMNA, 3-BP DEL, EXON 3deletionPathogenic
3LMNALMNA, IVS9, G-C, +5single nucleotide variantPathogenic
4LMNANM_005572.3(LMNA): c.777T> A (p.Tyr259Ter)single nucleotide variantPathogenicrs58048078GRCh37Chr 1, 156104733: 156104733
5LMNANM_005572.3(LMNA): c.1477C> T (p.Gln493Ter)single nucleotide variantPathogenicrs56699480GRCh37Chr 1, 156106808: 156106808
6LMNANM_005572.3(LMNA): c.1072G> A (p.Glu358Lys)single nucleotide variantPathogenicrs60458016GRCh37Chr 1, 156105827: 156105827

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

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

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet