MCID: MSC112
MIFTS: 25

Muscular Dystrophy, Limb-Girdle, Type 1b malady

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

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

About this section
Sources:
46OMIM, 9diseasecard, 61UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 44Novoseek, 26ICD10 via Orphanet
See all sources

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

Name: Muscular Dystrophy, Limb-Girdle, Type 1b 46 9 61
Limb-Girdle Muscular Dystrophy, Type 1b 42 20 22
Lgmd1b 42 44 48
 
Limb-Girdle Muscular Dystrophy Due to Lamin a/c Deficiency 42 48
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b 42 48
Muscular Dystrophy, Proximal, Type 1b 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
lgmd1b:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM46 159001
Orphanet48 264
ICD10 via Orphanet26 G71.0

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

About this section
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:46 159001

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

About this section

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 Suite 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

About this section

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

About this section

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

About this section

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

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

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

About this section

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

About this section

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

About this section

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

About this section

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

63
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
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

About this section
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

About this section

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

About this section

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

About this section

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

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet