MCID: LMB019
MIFTS: 27

Limb-Girdle Muscular Dystrophy, Type 1b malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Limb-Girdle Muscular Dystrophy, Type 1b

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MalaCards based summary: Limb-Girdle Muscular Dystrophy, Type 1b, also known as lgmd1b, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including An important gene associated with Limb-Girdle Muscular Dystrophy, Type 1b is LMNA (lamin A/C).

Description from OMIM:46 159001

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

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

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

Name: Limb-Girdle Muscular Dystrophy, Type 1b 42 20 22
Lgmd1b 42 44 48
Muscular Dystrophy, Limb-Girdle, Type 1b 46 62
 
Limb-Girdle Muscular Dystrophy Due to Lamin a/c Deficiency 48
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b 48
Muscular Dystrophy, Proximal, Type 1b 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

48
lgmd1b:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Childhood


External Ids:

OMIM46 159001
ICD10 via Orphanet26 G71.0

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

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Symptoms for Limb-Girdle Muscular Dystrophy, Type 1b

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Symptoms by clinical synopsis from OMIM:

159001

Clinical features from OMIM:

159001

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

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Drug clinical trials:

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

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

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

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 1b20
2 Limb-Girdle Muscular Dystrophy, Type 1b22

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

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

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Publications for Limb-Girdle Muscular Dystrophy, Type 1b

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

idTitleAuthorsYear
1
Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. (15832002)
2005
2
A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B. (14569138)
2003

Variations for Limb-Girdle Muscular Dystrophy, Type 1b

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

6
id Gene Name 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 Limb-Girdle Muscular Dystrophy, Type 1b

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Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 1b

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

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Limb-Girdle Muscular Dystrophy, Type 1b

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet