LGMD1B
MCID: ATS296
MIFTS: 39

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b (LGMD1B)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

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

MalaCards integrated aliases for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b:

Name: Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b 12 59 15
Lgmd1b 12 53 59 75 55
Limb-Girdle Muscular Dystrophy Due to Lamin a/c Deficiency 12 59
Limb-Girdle Muscular Dystrophy, Type 1b 29 6
Dystrophy, Muscular, Limb-Girdle, Type 1b 40
Muscular Dystrophy, Limb-Girdle, Type 1b 13
Muscular Dystrophy, Limb-Girdle Type 1b 12
Limb-Girdle Muscular Dystrophy Type 1b 53
Muscular Dystrophy, Proximal, Type 1b 53
Proximal Muscular Dystrophy Type 1b 12
Muscular Dystrophy Proximal Type 1b 75
Limb-Girdle Muscular Dystrophy 1b 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant limb-girdle muscular dystrophy type 1b
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (United Kingdom); Age of onset: Adolescent,Childhood; Age of death: adult;

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

NIH Rare Diseases : 53 Limb-girdle muscular dystrophy type 1B (LGMD1B) is one of many types of limb-girdle muscular dystrophy. These diseases affect the voluntary muscles, which are the muscles that are moved on purpose, such as the arms, legs, fingers, toes, and facial muscles. Specifically, LGMD1B causes muscle weakness in the lower limbs. The muscle weakness typically affects the muscles closest to the center of the body (proximal muscles) such as the upper legs. The disease is progressive, leading to a loss of muscle strength and bulk over a number of years. Limb-girdle muscular dystrophy type 1B is caused by mutations (changes) to the LMNA gene. The disease is inherited in an autosomal dominant manner. A diagnosis of LGMD1B is suspected in people who have signs and symptoms consistent with the disease, and the diagnosis can be confirmed with laboratory tests. While there are not treatments that can reverse the muscle weakness associated with the disease, supportive treatment can decrease the complications.

MalaCards based summary : Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b, also known as lgmd1b, is related to emery-dreifuss muscular dystrophy 2, autosomal dominant and emery-dreifuss muscular dystrophy. An important gene associated with Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b is LMNA (Lamin A/C), and among its related pathways/superpathways is Initiation of Nuclear Envelope Reformation. Affiliated tissues include testes, and related phenotypes are seizures and sudden cardiac death

Disease Ontology : 12 An autosomal dominant limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding lamin A/C (LMNA).

Related Diseases for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Diseases related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 2, autosomal dominant 32.2 EMD LMNA YARS
2 emery-dreifuss muscular dystrophy 30.2 EMD LMNA
3 autosomal dominant limb-girdle muscular dystrophy 29.8 CAV3 DNAJB6 EMD LMNA TNPO3
4 limb-girdle muscular dystrophy 29.7 CAV3 DNAJB6 HNRNPDL LMNA TNPO3
5 muscular dystrophy 29.5 CAV3 DNAJB6 EMD HNRNPDL LMNA TNPO3
6 dilated cardiomyopathy 10.3
7 epilepsy 10.3
8 emerinopathy 10.1 EMD LMNA
9 cardiomyopathy, dilated, 1h 10.1 EMD LMNA
10 lipodystrophy, congenital generalized, type 4 10.1 CAV3 LMNA
11 myopathy, proximal, and ophthalmoplegia 10.1 EMD LMNA
12 muscular dystrophy-dystroglycanopathy , type b, 5 10.1 CAV3 LMNA
13 emery-dreifuss muscular dystrophy 1, x-linked 10.1 EMD LMNA
14 pelger-huet anomaly 10.0 EMD LMNA
15 cardiomyopathy, dilated, 1a 10.0 EMD LMNA
16 familial partial lipodystrophy 10.0 EMD LMNA
17 muscular dystrophy, congenital, lmna-related 10.0 EMD LMNA
18 congenital fiber-type disproportion 10.0 EMD LMNA
19 myofibrillar myopathy 10.0 DNAJB6 LMNA
20 muscle tissue disease 9.9 CAV3 EMD LMNA
21 neuromuscular disease 9.9 EMD LMNA
22 autosomal recessive limb-girdle muscular dystrophy type 2w 9.9 HNRNPDL TNPO3
23 muscular dystrophy-dystroglycanopathy , type c, 9 9.9 HNRNPDL TNPO3
24 muscular dystrophy-dystroglycanopathy , type c, 14 9.9 HNRNPDL TNPO3
25 muscular dystrophy-dystroglycanopathy , type c, 1 9.9 HNRNPDL TNPO3
26 muscular dystrophy-dystroglycanopathy , type c, 7 9.9 HNRNPDL TNPO3
27 autosomal recessive limb-girdle muscular dystrophy type 2r 9.9 HNRNPDL TNPO3
28 muscular dystrophy-dystroglycanopathy , type c, 3 9.9 HNRNPDL TNPO3
29 muscular dystrophy-dystroglycanopathy , type c, 2 9.9 HNRNPDL TNPO3
30 atrial standstill 1 9.8 EMD LMNA
31 muscular disease 9.8 CAV3 DNAJB6 EMD LMNA
32 muscular dystrophy, limb-girdle, type 1h 9.7 DNAJB6 HNRNPDL TNPO3
33 autosomal recessive limb-girdle muscular dystrophy type 2q 9.7 DNAJB6 HNRNPDL TNPO3
34 autosomal dominant limb-girdle muscular dystrophy type 1g 9.7 DNAJB6 HNRNPDL TNPO3
35 autosomal dominant limb-girdle muscular dystrophy type 1f 9.6 CAV3 DNAJB6 HNRNPDL TNPO3
36 autosomal dominant limb-girdle muscular dystrophy type 1c 9.6 CAV3 DNAJB6 HNRNPDL TNPO3
37 muscular dystrophy, limb-girdle, autosomal dominant 1 9.6 CAV3 DNAJB6 HNRNPDL TNPO3

Graphical network of the top 20 diseases related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b:



Diseases related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Symptoms & Phenotypes for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Human phenotypes related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 sudden cardiac death 59 32 frequent (33%) Frequent (79-30%) HP:0001645
3 respiratory insufficiency 59 32 very rare (1%) Very rare (<4-1%) HP:0002093
4 wide nasal bridge 59 32 very rare (1%) Very rare (<4-1%) HP:0000431
5 neonatal hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001319
6 elevated serum creatine phosphokinase 59 32 frequent (33%) Frequent (79-30%) HP:0003236
7 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
8 dilated cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001644
9 achilles tendon contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001771
10 waddling gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002515
11 elbow flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0002987
12 proximal muscle weakness in upper limbs 59 32 frequent (33%) Frequent (79-30%) HP:0008997
13 lipodystrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0009125
14 difficulty walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0002355
15 midface retrusion 59 32 very rare (1%) Very rare (<4-1%) HP:0011800
16 muscular dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003560
17 fatiguable weakness of proximal limb muscles 59 32 hallmark (90%) Very frequent (99-80%) HP:0030200
18 generalized hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001290
19 abnormal atrioventricular conduction 59 32 frequent (33%) Frequent (79-30%) HP:0005150
20 difficulty running 59 32 frequent (33%) Frequent (79-30%) HP:0009046
21 syncope 59 32 frequent (33%) Frequent (79-30%) HP:0001279
22 atrial fibrillation 59 32 frequent (33%) Frequent (79-30%) HP:0005110
23 bradycardia 59 32 frequent (33%) Frequent (79-30%) HP:0001662
24 limb-girdle muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003797

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

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

Genetic Tests for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

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

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1b 29 LMNA

Anatomical Context for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

MalaCards organs/tissues related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b:

41
Testes

Publications for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

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

# Title Authors Year
1
An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles. ( 27220833 )
2016
2
Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. ( 15832002 )
2005
3
A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B. ( 14569138 )
2003
4
Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. ( 14644157 )
2003

Variations for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

ClinVar genetic disease variations for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.1357C> T (p.Arg453Trp) single nucleotide variant Pathogenic/Likely pathogenic rs58932704 GRCh37 Chromosome 1, 156106204: 156106204
2 LMNA NM_170707.3(LMNA): c.1357C> T (p.Arg453Trp) single nucleotide variant Pathogenic/Likely pathogenic rs58932704 GRCh38 Chromosome 1, 156136413: 156136413
3 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh37 Chromosome 1, 156105885: 156105885
4 LMNA NM_170707.3(LMNA): c.1130G> A (p.Arg377His) single nucleotide variant Pathogenic rs61672878 GRCh38 Chromosome 1, 156136094: 156136094
5 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
6 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh38 Chromosome 1, 156136036: 156136036
7 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
8 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
9 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh37 Chromosome 1, 156105901: 156105901
10 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh38 Chromosome 1, 156136110: 156136110
11 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh37 Chromosome 1, 156106185: 156106185
12 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh38 Chromosome 1, 156136394: 156136394
13 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh37 Chromosome 1, 156107534: 156107534
14 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh38 Chromosome 1, 156137743: 156137743
15 LMNA NM_005572.3(LMNA): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs60682848 GRCh37 Chromosome 1, 156104629: 156104629
16 LMNA NM_005572.3(LMNA): c.673C> T (p.Arg225Ter) single nucleotide variant Pathogenic rs60682848 GRCh38 Chromosome 1, 156134838: 156134838
17 LMNA NM_170707.3(LMNA): c.1488+1G> A single nucleotide variant Pathogenic rs267607640 GRCh37 Chromosome 1, 156106820: 156106820
18 LMNA NM_170707.3(LMNA): c.1488+1G> A single nucleotide variant Pathogenic rs267607640 GRCh38 Chromosome 1, 156137029: 156137029
19 LMNA NM_170707.3(LMNA): c.94_96delAAG (p.Lys32del) deletion Pathogenic rs60872029 GRCh37 Chromosome 1, 156084803: 156084805
20 LMNA NM_170707.3(LMNA): c.94_96delAAG (p.Lys32del) deletion Pathogenic rs60872029 GRCh38 Chromosome 1, 156115012: 156115014
21 LMNA NM_170707.3(LMNA): c.99G> C (p.Glu33Asp) single nucleotide variant Likely pathogenic rs57966821 GRCh37 Chromosome 1, 156084808: 156084808
22 LMNA NM_170707.3(LMNA): c.99G> C (p.Glu33Asp) single nucleotide variant Likely pathogenic rs57966821 GRCh38 Chromosome 1, 156115017: 156115017
23 LMNA NM_170707.3(LMNA): c.1609-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs111569862 GRCh37 Chromosome 1, 156107444: 156107444
24 LMNA NM_170707.3(LMNA): c.1609-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs111569862 GRCh38 Chromosome 1, 156137653: 156137653
25 LMNA NM_005572.3(LMNA): c.886_887insA (p.Arg296Glnfs) insertion Pathogenic rs797044758 GRCh37 Chromosome 1, 156105053: 156105054
26 LMNA NM_005572.3(LMNA): c.886_887insA (p.Arg296Glnfs) insertion Pathogenic rs797044758 GRCh38 Chromosome 1, 156135262: 156135263
27 LMNA NM_170707.3(LMNA): c.810+1G> C single nucleotide variant Pathogenic rs267607632 GRCh37 Chromosome 1, 156104767: 156104767
28 LMNA NM_170707.3(LMNA): c.810+1G> C single nucleotide variant Pathogenic rs267607632 GRCh38 Chromosome 1, 156134976: 156134976
29 LMNA NM_170707.3(LMNA): c.162_163delGG (p.Asn56Argfs) deletion Pathogenic rs879253932 GRCh37 Chromosome 1, 156084871: 156084872
30 LMNA NM_170707.3(LMNA): c.162_163delGG (p.Asn56Argfs) deletion Pathogenic rs879253932 GRCh38 Chromosome 1, 156115080: 156115081
31 LMNA NM_170707.3(LMNA): c.1487C> T (p.Thr496Met) single nucleotide variant Uncertain significance rs200466188 GRCh37 Chromosome 1, 156106818: 156106818
32 LMNA NM_170707.3(LMNA): c.1487C> T (p.Thr496Met) single nucleotide variant Uncertain significance rs200466188 GRCh38 Chromosome 1, 156137027: 156137027
33 LMNA NM_170707.3(LMNA): c.65_66delCGinsT (p.Ser22Phefs) indel Pathogenic rs886043745 GRCh37 Chromosome 1, 156084774: 156084775
34 LMNA NM_170707.3(LMNA): c.65_66delCGinsT (p.Ser22Phefs) indel Pathogenic rs886043745 GRCh38 Chromosome 1, 156114983: 156114984
35 LMNA NM_170707.3(LMNA): c.1142_1157+1del17 deletion Pathogenic GRCh38 Chromosome 1, 156136106: 156136122
36 LMNA NM_170707.3(LMNA): c.1142_1157+1del17 deletion Pathogenic GRCh37 Chromosome 1, 156105897: 156105913

Expression for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

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

Pathways for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Pathways related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.14 EMD LMNA

GO Terms for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Cellular components related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.62 CAV3 DNAJB6

Biological processes related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.32 CAV3 EMD
2 muscle organ development GO:0007517 9.26 CAV3 EMD
3 protein import into nucleus GO:0006606 9.16 LMNA TNPO3
4 protein localization to nucleus GO:0034504 8.96 DNAJB6 LMNA
5 mitotic nuclear envelope reassembly GO:0007084 8.62 EMD LMNA

Sources for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....