LGMD1A
MCID: ATS295
MIFTS: 40

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a (LGMD1A)

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

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

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

Name: Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a 12 59 15
Lgmd1a 12 53 59 75 55
Limb-Girdle Muscular Dystrophy Due to Myotilin Deficiency 12 59
Limb-Girdle Muscular Dystrophy, Type 1a 29 6
Dystrophy, Muscular, Limb-Girdle, Type 1a 40
Muscular Dystrophy, Limb-Girdle, Type 1a 13
Muscular Dystrophy Limb-Girdle Type 1a 12
Limb-Girdle Muscular Dystrophy Type 1a 53
Muscular Dystrophy, Proximal, Type 1a 53
Proximal Muscular Dystrophy Type 1a 12
Muscular Dystrophy Proximal Type 1a 75
Limb-Girdle Muscular Dystrophy 1a 75
Lgmd1 53

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant limb-girdle muscular dystrophy type 1a
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110300
ICD10 33 G71.0
Orphanet 59 ORPHA266
UMLS via Orphanet 74 C1834659
ICD10 via Orphanet 34 G71.0
MedGen 42 C1834659
MeSH 44 D049288

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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 266Disease definitionAutosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.Visit the Orphanet disease page for more resources.

MalaCards based summary : Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a, also known as lgmd1a, is related to myopathy, myofibrillar, 3 and myopathy. An important gene associated with Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a is MYOT (Myotilin), and among its related pathways/superpathways is Focal Adhesion. Affiliated tissues include skeletal muscle and myeloid, and related phenotypes are dysphagia and elevated serum creatine phosphokinase

Disease Ontology : 12 An autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the gene encoding myotilin (MYOT1) on chromosome 5q31.

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

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 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 3 32.0 FLNC MYOT
2 myopathy 29.5 CAPN3 CAV3 FLNC MYOT
3 limb-girdle muscular dystrophy 29.2 CAPN3 CAV3 FKRP FLNC MYOT TRIM32
4 muscular dystrophy 29.2 CAPN3 CAV3 FKRP FLNC MYOT TRIM32
5 bethlem myopathy 1 10.3
6 autosomal dominant limb-girdle muscular dystrophy type 1f 10.0 CAV3 MYOT
7 myopathy, myofibrillar, 1 10.0 FLNC MYOT
8 autosomal recessive limb-girdle muscular dystrophy type 2g 10.0 CAPN3 MYOT
9 myopathy, myofibrillar, 2 10.0 FLNC MYOT
10 muscular dystrophy, limb-girdle, autosomal dominant 1 10.0 CAV3 MYOT
11 leukemia, acute myeloid 10.0
12 leukemia 10.0
13 myeloid leukemia 10.0
14 myopathy, spheroid body 10.0 FLNC MYOT
15 autosomal recessive limb-girdle muscular dystrophy type 2b 9.9 CAPN3 CAV3
16 myofibrillar myopathy 9.9 FLNC MYOT
17 autosomal dominant limb-girdle muscular dystrophy 9.9 CAV3 FLNC MYOT
18 paresthesia 9.9 CAPN3 FKRP
19 autosomal dominant limb-girdle muscular dystrophy type 1c 9.9 CAV3 FKRP
20 polyglucosan body myopathy 1 with or without immunodeficiency 9.9 CAPN3 FKRP
21 autosomal recessive limb-girdle muscular dystrophy type 2d 9.8 CAPN3 FKRP
22 miyoshi muscular dystrophy 9.8 CAPN3 CAV3 MYOT
23 muscular dystrophy-dystroglycanopathy , type b, 5 9.8 CAV3 FKRP
24 autosomal recessive limb-girdle muscular dystrophy type 2j 9.7 CAPN3 FKRP MYOT
25 autosomal recessive limb-girdle muscular dystrophy type 2a 9.7 CAPN3 FKRP MYOT
26 atrial standstill 1 9.7 FKRP MYOT
27 isolated hyperckemia 9.7 CAPN3 CAV3 FKRP
28 muscular dystrophy, limb-girdle, autosomal recessive 8 9.7 CAPN3 FKRP TRIM32
29 muscular dystrophy-dystroglycanopathy , type c, 5 9.7 CAPN3 FKRP TRIM32
30 muscular dystrophy, limb-girdle, autosomal recessive 6 9.7 CAPN3 FKRP TRIM32
31 autosomal recessive limb-girdle muscular dystrophy type 2h 9.5 CAPN3 FKRP MYOT TRIM32
32 muscular dystrophy, limb-girdle, autosomal recessive 7 9.5 CAPN3 FKRP MYOT TRIM32
33 muscle tissue disease 9.5 CAPN3 CAV3 FKRP MYOT
34 autosomal recessive limb-girdle muscular dystrophy 9.5 CAPN3 CAV3 FKRP TRIM32
35 muscular dystrophy, limb-girdle, autosomal recessive 2 9.4 CAPN3 CAV3 FKRP MYOT TRIM32
36 muscular disease 9.2 CAPN3 CAV3 FKRP FLNC MYOT TRIM32

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



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

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

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

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
2 elevated serum creatine phosphokinase 59 32 frequent (33%) Frequent (79-30%) HP:0003236
3 inability to walk 59 32 frequent (33%) Frequent (79-30%) HP:0002540
4 respiratory failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002878
5 proximal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003701
6 increased variability in muscle fiber diameter 59 32 frequent (33%) Frequent (79-30%) HP:0003557
7 foot dorsiflexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009027
8 reduced vital capacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002792
9 difficulty climbing stairs 59 32 frequent (33%) Frequent (79-30%) HP:0003551
10 distal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002460
11 increased endomysial connective tissue 59 32 frequent (33%) Frequent (79-30%) HP:0100297
12 limited elbow flexion 59 32 frequent (33%) Frequent (79-30%) HP:0006376
13 shoulder girdle muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003547
14 facial hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000297
15 fatty replacement of skeletal muscle 59 32 frequent (33%) Frequent (79-30%) HP:0012548
16 difficulty standing 59 32 frequent (33%) Frequent (79-30%) HP:0003698
17 autophagic vacuoles 59 32 frequent (33%) Frequent (79-30%) HP:0003736
18 limited knee flexion/extension 59 32 frequent (33%) Frequent (79-30%) HP:0005085
19 hip flexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0012515
20 reduced maximal inspiratory pressure 59 32 occasional (7.5%) Occasional (29-5%) HP:0012496
21 respiratory insufficiency 59 Occasional (29-5%)
22 emg: myopathic abnormalities 59 Frequent (79-30%)
23 pelvic girdle muscle weakness 59 Very frequent (99-80%)
24 functional respiratory abnormality 59 Occasional (29-5%)
25 emg 32 frequent (33%) HP:0003458

MGI Mouse Phenotypes related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CAPN3 CAV3 FKRP FLNC TRIM32

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

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

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

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

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1a 29 MYOT

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

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

41
Skeletal Muscle, Myeloid

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

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

# Title Authors Year
1
Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A. ( 11335118 )
2001
2
Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. ( 9828127 )
1998
3
Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A. ( 8533815 )
1995
4
Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. ( 7881291 )
1994

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYOT NM_006790.2(MYOT): c.170C> T (p.Thr57Ile) single nucleotide variant Pathogenic rs28937597 GRCh37 Chromosome 5, 137206510: 137206510
2 MYOT NM_006790.2(MYOT): c.170C> T (p.Thr57Ile) single nucleotide variant Pathogenic rs28937597 GRCh38 Chromosome 5, 137870821: 137870821
3 MYOT NM_006790.2(MYOT): c.164C> T (p.Ser55Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908457 GRCh37 Chromosome 5, 137206504: 137206504
4 MYOT NM_006790.2(MYOT): c.164C> T (p.Ser55Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121908457 GRCh38 Chromosome 5, 137870815: 137870815
5 MYOT NM_006790.2(MYOT): c.107_110delAACA (p.Lys36Serfs) deletion Uncertain significance rs398124238 GRCh37 Chromosome 5, 137206447: 137206450
6 MYOT NM_006790.2(MYOT): c.107_110delAACA (p.Lys36Serfs) deletion Uncertain significance rs398124238 GRCh38 Chromosome 5, 137870758: 137870761
7 MYOT NM_006790.2(MYOT): c.149A> G (p.Gln50Arg) single nucleotide variant Benign/Likely benign rs34717730 GRCh37 Chromosome 5, 137206489: 137206489
8 MYOT NM_006790.2(MYOT): c.149A> G (p.Gln50Arg) single nucleotide variant Benign/Likely benign rs34717730 GRCh38 Chromosome 5, 137870800: 137870800
9 MYOT NM_006790.2(MYOT): c.780G> A (p.Ser260=) single nucleotide variant Benign/Likely benign rs116773838 GRCh37 Chromosome 5, 137217758: 137217758
10 MYOT NM_006790.2(MYOT): c.780G> A (p.Ser260=) single nucleotide variant Benign/Likely benign rs116773838 GRCh38 Chromosome 5, 137882069: 137882069

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

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

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.57 CAPN3 CAV3 FLNC

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

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

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.26 CAPN3 CAV3
2 Z disc GO:0030018 9.26 CAPN3 CAV3 FLNC MYOT
3 dystrophin-associated glycoprotein complex GO:0016010 9.16 CAV3 FKRP
4 sarcolemma GO:0042383 8.92 CAV3 FKRP FLNC MYOT

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.32 CAPN3 TRIM32
2 muscle contraction GO:0006936 9.26 CAV3 MYOT
3 muscle organ development GO:0007517 9.16 CAPN3 CAV3
4 positive regulation of proteolysis GO:0045862 8.96 CAPN3 TRIM32
5 muscle cell cellular homeostasis GO:0046716 8.8 CAPN3 CAV3 TRIM32

Molecular functions related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex scaffold activity GO:0032947 8.96 CAPN3 CAV3
2 structural constituent of muscle GO:0008307 8.62 CAPN3 MYOT

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

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
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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
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