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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47OMIM, 33MalaCards
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MalaCards: Limb-Girdle Muscular Dystrophy, Type 1b, also known as lgmd1b, is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy, Type 1b is LMNA (lamin A/C).

Description from OMIM:47 159001

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

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 49Orphanet, 47OMIM, 62UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
lgmd1b:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Childhood


Aliases & Descriptions:

limb-girdle muscular dystrophy, type 1b 43 20 22
lgmd1b 43 45 49
muscular dystrophy, limb-girdle, type 1b 47 62
limb-girdle muscular dystrophy due to lamin a/c deficiency 49
autosomal dominant limb-girdle muscular dystrophy type 1b 49
muscular dystrophy, proximal, type 1b 43


External Ids:

OMIM47 159001
ICD10 via Orphanet26 G71.0

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

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17GeneCards, 18GeneDecks
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Symptoms for Limb-Girdle Muscular Dystrophy, Type 1b

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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

159001

Clinical features from OMIM:

159001

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

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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20GeneTests, 22GTR
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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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52PubMed
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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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Limb-Girdle Muscular Dystrophy, Type 1b

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet