MCID: LMB019
MIFTS: 27

Limb-Girdle Muscular Dystrophy, Type 1b malady

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

Summaries for Limb-Girdle Muscular Dystrophy, Type 1b

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 159001

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

About this section
Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 27ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
lgmd1b:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Childhood


Aliases & Descriptions:

limb-girdle muscular dystrophy, type 1b 44 21 23
lgmd1b 44 46 50
muscular dystrophy, limb-girdle, type 1b 48 63
limb-girdle muscular dystrophy due to lamin a/c deficiency 50
autosomal dominant limb-girdle muscular dystrophy type 1b 50
muscular dystrophy, proximal, type 1b 44


External Ids:

OMIM48 159001
ICD10 via Orphanet27 G71.0

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

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Symptoms for Limb-Girdle Muscular Dystrophy, Type 1b

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

159001

Clinical features from OMIM:

159001

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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

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

Drug clinical trials:

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

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

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

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 1b21
2 Limb-Girdle Muscular Dystrophy, Type 1b23

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

About this section

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

About this section

Publications for Limb-Girdle Muscular Dystrophy, Type 1b

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Limb-Girdle Muscular Dystrophy, Type 1b

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet