MCID: MSC117
MIFTS: 38

Muscular Dystrophy, Limb-Girdle, Type 1e

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Metabolic 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 57 13 73
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 12 53 59 15
Lgmd1e 57 53 59 75
Lgmd1d 12 53 59 75
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d 53 59
Limb-Girdle Muscular Dystrophy, Type 1e 29 6
Limb-Girdle Muscular Dystrophy Type 1d 53 75
Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly; Lgmd1d, Formerly 57
Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1 40
Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly 57
Dystrophy, Muscular, Limb-Girdle, Type 1e 40
Muscular Dystrophy, Limb-Girdle, Type 1d 73
Muscular Dystrophy Limb-Girdle Type 1d 12
Muscular Dystrophy Limb-Girdle Type 1e 12
Limb-Girdle Muscular Dystrophy Type 1e 53
Limb-Girdle Muscular Dystrophy 1e 75
Lgmd1d, Formerly 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
muscular dystrophy, limb-girdle, type 1e:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


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

OMIM : 57 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 waddling gait 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, and related phenotypes are dysarthria and dysphagia

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

UniProtKB/Swiss-Prot : 75 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.

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 42)
# Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, 1 32.1 DES MYOT
2 myopathy, myofibrillar, 3 10.4 DNAJB6 MYOT
3 central core disease of muscle 10.3 DES MYOT
4 autosomal recessive limb-girdle muscular dystrophy type 2h 10.2 FKRP MYOT
5 muscular dystrophy, limb-girdle, type 2j 10.2 FKRP MYOT
6 myopathy, spheroid body 10.1 DES DNAJB6 MYOT
7 myofibrillar myopathy 10.1 DES DNAJB6 MYOT
8 autosomal recessive limb-girdle muscular dystrophy type 2e 10.1 HNRNPDL TRAPPC11
9 muscular dystrophy, limb-girdle, type 2g 10.1 FKRP MYOT
10 muscular dystrophy, limb-girdle, type 2l 10.0 FKRP TRAPPC11
11 isolated hyperckemia 9.9 CAV3 FKRP
12 muscular dystrophy, limb-girdle, type 1c 9.9 CAV3 FKRP
13 distal muscular dystrophy 9.9 CAV3 MYOT
14 atrial standstill 1 9.8 DES FKRP MYOT
15 congenital muscular dystrophy with intellectual disability 9.7 FKRP GMPPB
16 neuromuscular disease 9.7 DES MYOT
17 congenital muscular dystrophy with cerebellar involvement 9.7 FKRP GMPPB
18 muscular dystrophy-dystroglycanopathy , type c, 4 9.7 FKRP HNRNPDL TRAPPC11
19 muscular dystrophy-dystroglycanopathy , type b, 5 9.6 CAV3 FKRP
20 muscular dystrophy, limb-girdle, type 1h 9.6 DNAJB6 HNRNPDL MYOT TNPO3
21 muscular dystrophy, limb-girdle, type 1a 9.6 CAV3 FKRP MYOT
22 muscular dystrophy, limb-girdle, type 2b 9.6 CAV3 FKRP MYOT
23 muscle tissue disease 9.5 CAV3 FKRP MYOT
24 muscular dystrophy-dystroglycanopathy 9.4 FKRP GMPPB
25 muscular dystrophy, limb-girdle, type 2q 9.4 DNAJB6 HNRNPDL TNPO3 TRAPPC11
26 autosomal dominant limb-girdle muscular dystrophy 9.3 CAV3 DNAJB6 MYOT TNPO3
27 muscular dystrophy, limb-girdle, type 1b 9.2 CAV3 DNAJB6 HNRNPDL TNPO3
28 muscle eye brain disease 9.2 FKRP GMPPB
29 autosomal dominant limb-girdle muscular dystrophy type 1g 9.0 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11
30 muscular dystrophy-dystroglycanopathy , type c, 9 8.8 GMPPB HNRNPDL TNPO3 TRAPPC11
31 muscular dystrophy, limb-girdle, type 2w 8.8 GMPPB HNRNPDL TNPO3 TRAPPC11
32 muscular dystrophy-dystroglycanopathy , type c, 14 8.8 GMPPB HNRNPDL TNPO3 TRAPPC11
33 muscular dystrophy-dystroglycanopathy , type c, 7 8.8 GMPPB HNRNPDL TNPO3 TRAPPC11
34 muscular dystrophy-dystroglycanopathy , type c, 3 8.8 GMPPB HNRNPDL TNPO3 TRAPPC11
35 muscular dystrophy-dystroglycanopathy , type c, 1 8.8 GMPPB HNRNPDL TNPO3 TRAPPC11
36 muscular dystrophy-dystroglycanopathy , type c, 2 8.8 GMPPB HNRNPDL TNPO3 TRAPPC11
37 myopathy 8.7 CAV3 DES DNAJB6 FKRP MYOT
38 muscular dystrophy, limb-girdle, type 2r 8.4 DES GMPPB HNRNPDL TNPO3 TRAPPC11
39 muscular dystrophy, limb-girdle, type 1f 8.2 CAV3 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11
40 autosomal dominant limb-girdle muscular dystrophy type 1c 8.2 CAV3 DNAJB6 FKRP HNRNPDL MYOT TNPO3
41 limb-girdle muscular dystrophy 7.6 CAV3 DNAJB6 FKRP HNRNPDL MYOT TNPO3
42 muscular dystrophy 6.2 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:

57
Muscle Soft Tissue:
rimmed vacuoles
difficulty climbing stairs
waddling gait
shoulder girdle muscle weakness
gowers sign
more
Abdomen Gastrointestinal:
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:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
2 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
3 generalized muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003324
4 myofibrillar myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003715
5 rimmed vacuoles 59 32 occasional (7.5%) Occasional (29-5%) HP:0003805
6 difficulty climbing stairs 59 32 frequent (33%) Frequent (79-30%) HP:0003551
7 increased variability in muscle fiber diameter 59 32 frequent (33%) Frequent (79-30%) HP:0003557
8 fatty replacement of skeletal muscle 59 32 occasional (7.5%) Occasional (29-5%) HP:0012548
9 loss of ability to walk 59 32 occasional (7.5%) Occasional (29-5%) HP:0006957
10 skeletal muscle fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0030951
11 percussion myotonia 59 32 very rare (1%) Very rare (<4-1%) HP:0010548
12 facial palsy 32 occasional (7.5%) HP:0010628
13 flexion contracture 32 occasional (7.5%) HP:0001371
14 dyspnea 32 occasional (7.5%) HP:0002094
15 elevated serum creatine phosphokinase 32 HP:0003236
16 abnormality of muscle fibers 59 Very rare (<4-1%)
17 muscular dystrophy 32 HP:0003560
18 bulbar palsy 32 occasional (7.5%) HP:0001283
19 waddling gait 32 HP:0002515
20 pelvic girdle muscle weakness 32 HP:0003749
21 shoulder girdle muscle weakness 32 HP:0003547
22 gowers sign 32 HP:0003391
23 muscle fiber splitting 32 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 29 DNAJB6

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

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

41
Skeletal Muscle

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

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

# Title Authors Year
1
Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations. ( 29869469 )
2018

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

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

75
# 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
(show top 50) (show all 52)
# 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.277T> C (p.Phe93Leu) single nucleotide variant Pathogenic rs387907046 GRCh38 Chromosome 7, 157367414: 157367414
3 DNAJB6 NM_058246.3(DNAJB6): c.287C> G (p.Pro96Arg) single nucleotide variant Pathogenic rs387907047 GRCh37 Chromosome 7, 157160118: 157160118
4 DNAJB6 NM_058246.3(DNAJB6): c.287C> G (p.Pro96Arg) single nucleotide variant Pathogenic rs387907047 GRCh38 Chromosome 7, 157367424: 157367424
5 DNAJB6 NM_058246.3(DNAJB6): c.279C> G (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh37 Chromosome 7, 157160110: 157160110
6 DNAJB6 NM_058246.3(DNAJB6): c.279C> G (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh38 Chromosome 7, 157367416: 157367416
7 DNAJB6 NM_058246.3(DNAJB6): c.279C> A (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh37 Chromosome 7, 157160110: 157160110
8 DNAJB6 NM_058246.3(DNAJB6): c.279C> A (p.Phe93Leu) single nucleotide variant Pathogenic rs149278319 GRCh38 Chromosome 7, 157367416: 157367416
9 DNAJB6 NM_058246.3(DNAJB6): c.265T> A (p.Phe89Ile) single nucleotide variant Pathogenic rs387907150 GRCh37 Chromosome 7, 157160096: 157160096
10 DNAJB6 NM_058246.3(DNAJB6): c.265T> A (p.Phe89Ile) single nucleotide variant Pathogenic rs387907150 GRCh38 Chromosome 7, 157367402: 157367402
11 DNAJB6 NM_058246.3(DNAJB6): c.298T> G (p.Phe100Val) single nucleotide variant Pathogenic rs869320700 GRCh37 Chromosome 7, 157160129: 157160129
12 DNAJB6 NM_058246.3(DNAJB6): c.298T> G (p.Phe100Val) single nucleotide variant Pathogenic rs869320700 GRCh38 Chromosome 7, 157367435: 157367435
13 DNAJB6 NM_058246.3(DNAJB6): c.271T> A (p.Phe91Ile) single nucleotide variant Pathogenic rs869320701 GRCh37 Chromosome 7, 157160102: 157160102
14 DNAJB6 NM_058246.3(DNAJB6): c.271T> A (p.Phe91Ile) single nucleotide variant Pathogenic rs869320701 GRCh38 Chromosome 7, 157367408: 157367408
15 DNAJB6 NM_058246.3(DNAJB6): c.273C> G (p.Phe91Leu) single nucleotide variant Pathogenic rs759982570 GRCh38 Chromosome 7, 157367410: 157367410
16 DNAJB6 NM_058246.3(DNAJB6): c.273C> G (p.Phe91Leu) single nucleotide variant Pathogenic rs759982570 GRCh37 Chromosome 7, 157160104: 157160104
17 DNAJB6 NM_058246.3(DNAJB6): c.346+5G> A single nucleotide variant Pathogenic rs869320702 GRCh38 Chromosome 7, 157367488: 157367488
18 DNAJB6 NM_058246.3(DNAJB6): c.346+5G> A single nucleotide variant Pathogenic rs869320702 GRCh37 Chromosome 7, 157160182: 157160182
19 DNAJB6 NM_058246.3(DNAJB6): c.899-6C> T single nucleotide variant Benign/Likely benign rs78337193 GRCh38 Chromosome 7, 157416010: 157416010
20 DNAJB6 NM_058246.3(DNAJB6): c.899-6C> T single nucleotide variant Benign/Likely benign rs78337193 GRCh37 Chromosome 7, 157208704: 157208704
21 DNAJB6 NM_058246.3(DNAJB6): c.279C> T (p.Phe93=) single nucleotide variant Benign/Likely benign rs149278319 GRCh37 Chromosome 7, 157160110: 157160110
22 DNAJB6 NM_058246.3(DNAJB6): c.279C> T (p.Phe93=) single nucleotide variant Benign/Likely benign rs149278319 GRCh38 Chromosome 7, 157367416: 157367416
23 DNAJB6 NM_058246.3(DNAJB6): c.961T> C (p.Ser321Pro) single nucleotide variant Likely benign rs147168661 GRCh37 Chromosome 7, 157208772: 157208772
24 DNAJB6 NM_058246.3(DNAJB6): c.961T> C (p.Ser321Pro) single nucleotide variant Likely benign rs147168661 GRCh38 Chromosome 7, 157416078: 157416078
25 DNAJB6 NM_058246.3(DNAJB6): c.48C> T (p.Pro16=) single nucleotide variant Conflicting interpretations of pathogenicity rs150583876 GRCh37 Chromosome 7, 157151314: 157151314
26 DNAJB6 NM_058246.3(DNAJB6): c.48C> T (p.Pro16=) single nucleotide variant Conflicting interpretations of pathogenicity rs150583876 GRCh38 Chromosome 7, 157358620: 157358620
27 DNAJB6 NM_058246.3(DNAJB6): c.962C> T (p.Ser321Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142974468 GRCh37 Chromosome 7, 157208773: 157208773
28 DNAJB6 NM_058246.3(DNAJB6): c.962C> T (p.Ser321Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142974468 GRCh38 Chromosome 7, 157416079: 157416079
29 DNAJB6 NM_058246.3(DNAJB6): c.602G> A (p.Arg201Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs373070679 GRCh37 Chromosome 7, 157177684: 157177684
30 DNAJB6 NM_058246.3(DNAJB6): c.602G> A (p.Arg201Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs373070679 GRCh38 Chromosome 7, 157384990: 157384990
31 DNAJB6 NM_058246.3(DNAJB6): c.860G> A (p.Arg287Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368078459 GRCh37 Chromosome 7, 157202657: 157202657
32 DNAJB6 NM_058246.3(DNAJB6): c.860G> A (p.Arg287Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368078459 GRCh38 Chromosome 7, 157409963: 157409963
33 DNAJB6 NM_058246.3(DNAJB6): c.948G> A (p.Ser316=) single nucleotide variant Benign/Likely benign rs565527346 GRCh37 Chromosome 7, 157208759: 157208759
34 DNAJB6 NM_058246.3(DNAJB6): c.948G> A (p.Ser316=) single nucleotide variant Benign/Likely benign rs565527346 GRCh38 Chromosome 7, 157416065: 157416065
35 DNAJB6 NM_058246.3(DNAJB6): c.706G> A (p.Asp236Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs556999563 GRCh37 Chromosome 7, 157202503: 157202503
36 DNAJB6 NM_058246.3(DNAJB6): c.706G> A (p.Asp236Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs556999563 GRCh38 Chromosome 7, 157409809: 157409809
37 DNAJB6 NM_058246.3(DNAJB6): c.857C> T (p.Pro286Leu) single nucleotide variant Uncertain significance rs886044476 GRCh37 Chromosome 7, 157202654: 157202654
38 DNAJB6 NM_058246.3(DNAJB6): c.857C> T (p.Pro286Leu) single nucleotide variant Uncertain significance rs886044476 GRCh38 Chromosome 7, 157409960: 157409960
39 DNAJB6 NM_058246.3(DNAJB6): c.620+6G> T single nucleotide variant Uncertain significance rs755805131 GRCh37 Chromosome 7, 157177708: 157177708
40 DNAJB6 NM_058246.3(DNAJB6): c.620+6G> T single nucleotide variant Uncertain significance rs755805131 GRCh38 Chromosome 7, 157385014: 157385014
41 DNAJB6 NM_058246.3(DNAJB6): c.253A> G (p.Ser85Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 157160084: 157160084
42 DNAJB6 NM_058246.3(DNAJB6): c.253A> G (p.Ser85Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 157367390: 157367390
43 DNAJB6 NM_058246.3(DNAJB6): c.801G> T (p.Ser267=) single nucleotide variant Likely benign GRCh37 Chromosome 7, 157202598: 157202598
44 DNAJB6 NM_058246.3(DNAJB6): c.801G> T (p.Ser267=) single nucleotide variant Likely benign GRCh38 Chromosome 7, 157409904: 157409904
45 DNAJB6 NM_058246.3(DNAJB6): c.799T> C (p.Ser267Pro) single nucleotide variant Uncertain significance rs971868513 GRCh38 Chromosome 7, 157409902: 157409902
46 DNAJB6 NM_058246.3(DNAJB6): c.799T> C (p.Ser267Pro) single nucleotide variant Uncertain significance rs971868513 GRCh37 Chromosome 7, 157202596: 157202596
47 DNAJB6 NM_058246.3(DNAJB6): c.65+2T> C single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 157151333: 157151333
48 DNAJB6 NM_058246.3(DNAJB6): c.65+2T> C single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 157358639: 157358639
49 DNAJB6 NM_058246.3(DNAJB6): c.938G> A (p.Arg313Lys) single nucleotide variant Uncertain significance rs763185312 GRCh38 Chromosome 7, 157416055: 157416055
50 DNAJB6 NM_058246.3(DNAJB6): c.938G> A (p.Arg313Lys) single nucleotide variant Uncertain significance rs763185312 GRCh37 Chromosome 7, 157208749: 157208749

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

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10 dbSNP
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17 ExPASy
19 FMA
28 GO
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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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