MCID: MSC117
MIFTS: 41

Muscular Dystrophy, Limb-Girdle, Type 1e

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

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

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 1e:

Name: Muscular Dystrophy, Limb-Girdle, Type 1e 53 13 69
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 12 49 55 14
Lgmd1e 53 49 55 71
Lgmd1d 12 49 55 71
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d 49 55
Limb-Girdle Muscular Dystrophy Type 1d 49 71
Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly; Lgmd1d, Formerly 53
Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly 53
Muscular Dystrophy, Limb-Girdle, Type 1d 69
Limb-Girdle Muscular Dystrophy, Type 1e 28
Muscular Dystrophy Limb-Girdle Type 1d 12
Muscular Dystrophy Limb-Girdle Type 1e 12
Limb-Girdle Muscular Dystrophy Type 1e 49
Limb-Girdle Muscular Dystrophy 1e 71
Lgmd1d, Formerly 53

Characteristics:

Orphanet epidemiological data:

55
autosomal dominant limb-girdle muscular dystrophy type 1d
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;
autosomal dominant limb-girdle muscular dystrophy type 1e
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
variable age at onset (range childhood to adult)
most patients become wheelchair-bound after 20 to 30 years


HPO:

31
muscular dystrophy, limb-girdle, type 1e:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


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

OMIM : 53 LGMD1E is an autosomal dominant muscular disorder characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable, and can range from the first to sixth decade, although later onset is less common. Most patients present with proximal muscle weakness that progresses to distal involvement, but some can present with distal impairment. The severity is variable: patients with a more severe phenotype can lose ambulation after several decades and have facial weakness with bulbar and respiratory involvement. Muscle biopsy shows dystrophic changes with protein aggregates, myofibrillar degeneration, and rimmed vacuoles (summary by Ruggieri et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMD1A (159000). (603511)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 1e, also known as autosomal dominant limb-girdle muscular dystrophy type 1e, is related to myopathy, myofibrillar, 1 and myopathy, myofibrillar, 3, and has symptoms including generalized muscle weakness, dysarthria and dysphagia. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 1e is DNAJB6 (DnaJ Heat Shock Protein Family (Hsp40) Member B6). Affiliated tissues include skeletal muscle.

UniProtKB/Swiss-Prot : 71 Limb-girdle muscular dystrophy 1E: An autosomal dominant myopathy characterized by adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region.

Disease Ontology : 12 An autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.

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

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 1 32.0 DES MYOT
2 myopathy, myofibrillar, 3 10.3 DNAJB6 MYOT
3 central core disease of muscle 10.2 DES MYOT
4 myofibrillar myopathy 10.2 DES MYOT
5 autosomal recessive limb-girdle muscular dystrophy type 2h 10.1 FKRP MYOT
6 muscular dystrophy, limb-girdle, type 2j 10.1 FKRP MYOT
7 muscular dystrophy, limb-girdle, type 2g 10.1 FKRP MYOT
8 myopathy, spheroid body 10.1 DES DNAJB6 MYOT
9 muscular dystrophy, limb-girdle, type 2l 10.0 FKRP TRAPPC11
10 isolated hyperckemia 10.0 CAV3 FKRP
11 muscular dystrophy, limb-girdle, type 1c 10.0 CAV3 FKRP
12 distal muscular dystrophy 9.9 CAV3 MYOT
13 congenital muscular dystrophy with intellectual disability 9.8 FKRP GMPPB
14 atrial standstill 1 9.8 DES MYOT
15 congenital muscular dystrophy with cerebellar involvement 9.8 FKRP GMPPB
16 muscular dystrophy-dystroglycanopathy , type b, 5 9.8 CAV3 FKRP
17 muscular dystrophy-dystroglycanopathy , type c, 4 9.8 FKRP HNRNPDL TRAPPC11
18 muscular dystrophy, limb-girdle, type 1h 9.7 DNAJB6 HNRNPDL MYOT TNPO3
19 autosomal recessive limb-girdle muscular dystrophy 9.7 CAV3 FKRP
20 muscular dystrophy, limb-girdle, type 1a 9.7 CAV3 FKRP MYOT
21 muscular dystrophy-dystroglycanopathy 9.7 FKRP GMPPB
22 muscular dystrophy, limb-girdle, type 2b 9.7 CAV3 FKRP MYOT
23 muscle tissue disease 9.7 CAV3 FKRP MYOT
24 muscular dystrophy, limb-girdle, type 2q 9.6 DNAJB6 HNRNPDL TNPO3 TRAPPC11
25 autosomal recessive limb-girdle muscular dystrophy type 2e 9.6 DNAJB6 HNRNPDL TNPO3 TRAPPC11
26 autosomal dominant limb-girdle muscular dystrophy 9.5 CAV3 DNAJB6 MYOT TNPO3
27 muscular dystrophy, limb-girdle, type 1b 9.5 CAV3 DNAJB6 HNRNPDL TNPO3
28 muscle eye brain disease 9.5 FKRP GMPPB
29 autosomal dominant limb-girdle muscular dystrophy type 1g 9.4 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11
30 muscular dystrophy, limb-girdle, type 2w 9.3 GMPPB HNRNPDL TNPO3 TRAPPC11
31 muscular dystrophy-dystroglycanopathy , type c, 9 9.3 GMPPB HNRNPDL TNPO3 TRAPPC11
32 muscular dystrophy-dystroglycanopathy , type c, 14 9.2 GMPPB HNRNPDL TNPO3 TRAPPC11
33 muscular dystrophy-dystroglycanopathy , type c, 7 9.2 GMPPB HNRNPDL TNPO3 TRAPPC11
34 muscular dystrophy-dystroglycanopathy , type c, 1 9.2 GMPPB HNRNPDL TNPO3 TRAPPC11
35 muscular dystrophy-dystroglycanopathy , type c, 3 9.2 GMPPB HNRNPDL TNPO3 TRAPPC11
36 muscular dystrophy-dystroglycanopathy , type c, 2 9.2 GMPPB HNRNPDL TNPO3 TRAPPC11
37 myopathy 9.2 CAV3 DES DNAJB6 FKRP MYOT
38 limb-girdle muscular dystrophy 9.2 CAV3 DNAJB6 FKRP MYOT TNPO3
39 muscular dystrophy, limb-girdle, type 2a 9.1 CAV3 DNAJB6 FKRP MYOT TRAPPC11
40 muscular dystrophy, limb-girdle, type 2r 9.0 DES GMPPB HNRNPDL TNPO3 TRAPPC11
41 muscular dystrophy, limb-girdle, type 1f 8.9 CAV3 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11
42 autosomal dominant limb-girdle muscular dystrophy type 1c 8.9 CAV3 DNAJB6 FKRP HNRNPDL MYOT TNPO3
43 muscular dystrophy 7.6 CAV3 DES DNAJB6 FKRP GMPPB HNRNPDL

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type 1e:



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 1e

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 1e

Symptoms via clinical synopsis from OMIM:

53
Muscle Soft Tissue:
waddling gait
rimmed vacuoles
difficulty climbing stairs
shoulder girdle muscle weakness
gowers sign
more
Abdomen Gastroin testinal:
dysphagia (less common)

Head And Neck Face:
facial weakness (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase

Skeletal:
contractures (in some patients)

Respiratory:
respiratory difficulties, later onset (in some patients)
dyspnea (in some patients)


Clinical features from OMIM:

603511

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 1e:

55 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0003324
2 dysarthria 55 31 frequent (33%) Frequent (79-30%) HP:0001260
3 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
4 myofibrillar myopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003715
5 rimmed vacuoles 55 31 occasional (7.5%) Occasional (29-5%) HP:0003805
6 difficulty climbing stairs 55 31 frequent (33%) Frequent (79-30%) HP:0003551
7 increased variability in muscle fiber diameter 55 31 frequent (33%) Frequent (79-30%) HP:0003557
8 fatty replacement of skeletal muscle 55 31 occasional (7.5%) Occasional (29-5%) HP:0012548
9 loss of ability to walk 55 31 occasional (7.5%) Occasional (29-5%) HP:0006957
10 skeletal muscle fibrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0030951
11 percussion myotonia 55 31 very rare (1%) Very rare (<4-1%) HP:0010548
12 dyspnea 31 occasional (7.5%) HP:0002094
13 waddling gait 31 HP:0002515
14 facial palsy 31 occasional (7.5%) HP:0010628
15 flexion contracture 31 occasional (7.5%) HP:0001371
16 elevated serum creatine phosphokinase 31 HP:0003236
17 abnormality of muscle fibers 55 Very rare (<4-1%)
18 muscular dystrophy 31 HP:0003560
19 bulbar palsy 31 occasional (7.5%) HP:0001283
20 pelvic girdle muscle weakness 31 HP:0003749
21 shoulder girdle muscle weakness 31 HP:0003547
22 gowers sign 31 HP:0003391
23 muscle fiber splitting 31 HP:0003555

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Type 1e:


waddling gait

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

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

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

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

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1e 28 DNAJB6

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

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 1e:

38
Skeletal Muscle

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

Articles related to Muscular Dystrophy, Limb-Girdle, Type 1e:

# Title Authors Year
1
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. ( 29437287 )
2018
2
A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype. ( 26371419 )
2015
3
'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D. ( 23865856 )
2013
4
Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus. ( 21376592 )
2011

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

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

71
# Symbol AA change Variation ID SNP ID
1 DNAJB6 p.Phe89Ile VAR_067833 rs387907150
2 DNAJB6 p.Phe93Leu VAR_067834 rs387907046
3 DNAJB6 p.Pro96Arg VAR_067835 rs387907047

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 1e:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJB6 NM_058246.3(DNAJB6): c.277T> C (p.Phe93Leu) single nucleotide variant Pathogenic rs387907046 GRCh37 Chromosome 7, 157160108: 157160108
2 DNAJB6 NM_058246.3(DNAJB6): c.287C> G (p.Pro96Arg) single nucleotide variant Pathogenic rs387907047 GRCh37 Chromosome 7, 157160118: 157160118
3 DNAJB6 NM_058246.3(DNAJB6): c.279C> G (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh37 Chromosome 7, 157160110: 157160110
4 DNAJB6 NM_058246.3(DNAJB6): c.279C> A (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh37 Chromosome 7, 157160110: 157160110
5 DNAJB6 NM_058246.3(DNAJB6): c.265T> A (p.Phe89Ile) single nucleotide variant Pathogenic rs387907150 GRCh37 Chromosome 7, 157160096: 157160096
6 DNAJB6 NM_058246.3(DNAJB6): c.298T> G (p.Phe100Val) single nucleotide variant Pathogenic rs869320700 GRCh37 Chromosome 7, 157160129: 157160129
7 DNAJB6 NM_058246.3(DNAJB6): c.271T> A (p.Phe91Ile) single nucleotide variant Pathogenic rs869320701 GRCh37 Chromosome 7, 157160102: 157160102
8 DNAJB6 NM_058246.3(DNAJB6): c.273C> G (p.Phe91Leu) single nucleotide variant Pathogenic rs759982570 GRCh38 Chromosome 7, 157367410: 157367410
9 DNAJB6 NM_058246.3(DNAJB6): c.346+5G> A single nucleotide variant Pathogenic rs869320702 GRCh38 Chromosome 7, 157367488: 157367488

Expression for Muscular Dystrophy, Limb-Girdle, Type 1e

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 1e.

Pathways for Muscular Dystrophy, Limb-Girdle, Type 1e

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 1e

Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 1e according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular junction GO:0031594 9.32 CAV3 DES
2 intercalated disc GO:0014704 9.26 CAV3 DES
3 Z disc GO:0030018 9.26 CAV3 DES DNAJB6 MYOT
4 dystrophin-associated glycoprotein complex GO:0016010 9.16 CAV3 FKRP
5 sarcolemma GO:0042383 8.92 CAV3 DES FKRP MYOT

Biological processes related to Muscular Dystrophy, Limb-Girdle, Type 1e according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of heart contraction GO:0008016 9.16 CAV3 DES
2 intermediate filament organization GO:0045109 8.96 DES DNAJB6
3 muscle contraction GO:0006936 8.8 CAV3 DES MYOT

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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42 MESH via Orphanet
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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