LGMD1E
MCID: MSC117
MIFTS: 36

Muscular Dystrophy, Limb-Girdle, Type 1e (LGMD1E) malady

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 1e 54 13 69
Lgmd1d 12 50 24 56 66
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 12 50 56 14
Lgmd1e 50 24 56 66
Limb-Girdle Muscular Dystrophy Type 1d 50 24 66
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d 50 56
Limb-Girdle Muscular Dystrophy Type 1e 50 24
Limb-Girdle Muscular Dystrophy 1e 66 29
Muscular Dystrophy, Limb-Girdle, Type 1d 69
Muscular Dystrophy Limb-Girdle Type 1d 12
Muscular Dystrophy Limb-Girdle Type 1e 12
Lgmd 1d 24
Lgmd 1e 24

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 603511
Disease Ontology 12 DOID:0110305
ICD10 33 G71.0
ICD10 via Orphanet 34 G71.0
MedGen 40 C3148763
MeSH 42 D049288

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

OMIM : 54 LGMD1E is an autosomal dominant disorder characterized by adult onset of proximal muscle weakness, beginning in the hip... (603511) more...

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 1e, also known as lgmd1d, is related to muscular dystrophy, limb-girdle, type 1a and myopathy, myofibrillar, 1, and has symptoms including waddling gait, dysphagia and elevated serum creatine phosphokinase. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 1e is DNAJB6 (DnaJ Heat Shock Protein Family (Hsp40) Member B6).

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 : 66 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 1b Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type Ic 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 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 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Limb-Girdle Muscular Dystrophy 2z

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

(show all 44)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 1a 10.9
2 myopathy, myofibrillar, 1 10.8
3 autoimmune thyroid disease 2 10.2 DNAJB6 MYOT
4 cardiomyopathy, dilated, 1i 10.2 DES MYOT
5 myopathy, early-onset, with fatal cardiomyopathy 10.1 FKRP MYOT
6 epilepsy, generalized, with febrile seizures plus, type 1 10.1 DES MYOT
7 neurodegeneration with brain iron accumulation 6 10.1 FKRP MYOT
8 nonsyndromic hearing loss and deafness, mitochondrial 10.1 DES DNAJB6 MYOT
9 celiac disease 2 10.1 DES DNAJB6 MYOT
10 deafness, autosomal recessive 18b 10.1 FKRP TRAPPC11
11 spinocerebellar ataxia 11 10.1 FKRP MYOT
12 rippling muscle disease 10.0 CAV3 FKRP
13 glycogen storage disease 0, muscle 10.0 CAV3 FKRP
14 malignant hyperthermia susceptibility 10.0 CAV3 MYOT
15 lyme disease 10.0 CAV3 DES MYOT
16 alk-positive large b-cell lymphoma 10.0 FKRP GMPPB
17 hypereosinophilic syndrome, idiopathic, resistant to imatinib 10.0 FKRP TRAPPC11
18 hydroa vacciniforme-like lymphoma 10.0 FKRP GMPPB
19 nephronophthisis 2, infantile 9.9 FKRP HNRNPDL TRAPPC11
20 asphyxiating thoracic dystrophy 9.9 FKRP GMPPB
21 chronic atrial and intestinal dysrhythmia 9.9 DNAJB6 HNRNPDL MYOT TNPO3
22 autosomal recessive limb-girdle muscular dystrophy type 2w 9.9 CAV3 FKRP MYOT
23 myopathy, spheroid body 9.9 CAV3 FKRP MYOT
24 myopathy, distal, with anterior tibial onset 9.9 CAV3 FKRP MYOT
25 spindle cell sarcoma 9.9 CAV3 DES MYOT
26 cerebral angioma 9.9 CAV3 FKRP MYOT
27 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 CAV3 FKRP
28 central corneal ulcer 9.9 CAV3 FKRP MYOT
29 cornelia de lange syndrome 4 9.9 DNAJB6 HNRNPDL TNPO3 TRAPPC11
30 autosomal recessive limb-girdle muscular dystrophy type 2f 9.8 CAV3 DNAJB6 MYOT TNPO3
31 mandibuloacral dysplasia 9.8 CAV3 DNAJB6 HNRNPDL TNPO3
32 myasthenia gravis, limb-girdle 9.7 FKRP GMPPB
33 dentinogenesis imperfecta, shields type iii 9.7 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11
34 hypertrophic cardiomyopathy 21 9.7 GMPPB HNRNPDL TNPO3 TRAPPC11
35 muscular dystrophy-dystroglycanopathy , type b, 14 9.7 GMPPB HNRNPDL TNPO3 TRAPPC11
36 rheumatoid arthritis, systemic juvenile 9.7 GMPPB HNRNPDL TNPO3 TRAPPC11
37 muscular dystrophy-dystroglycanopathy , type a, 9 9.7 GMPPB HNRNPDL TNPO3 TRAPPC11
38 orofacial cleft 13 9.7 GMPPB HNRNPDL TNPO3 TRAPPC11
39 epileptic encephalopathy, early infantile, 4 9.7 GMPPB HNRNPDL TNPO3 TRAPPC11
40 dementia, frontotemporal 9.6 GMPPB HNRNPDL TNPO3 TRAPPC11
41 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 9.6 CAV3 DNAJB6 FKRP HNRNPDL TNPO3
42 spinal muscular atrophy, distal, autosomal recessive, 5 9.5 DES GMPPB HNRNPDL TNPO3 TRAPPC11
43 hypospadias 3, autosomal 9.5 CAV3 DNAJB6 HNRNPDL MYOT TNPO3 TRAPPC11
44 short-rib thoracic dysplasia 8 with or without polydactyly 8.8 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 by clinical synopsis from OMIM:

603511

Clinical features from OMIM:

603511

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

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 waddling gait 32 HP:0002515
2 dysphagia 32 HP:0002015
3 elevated serum creatine phosphokinase 32 HP:0003236
4 muscular dystrophy 32 HP:0003560
5 rimmed vacuoles 32 HP:0003805
6 difficulty climbing stairs 32 HP:0003551
7 shoulder girdle muscle weakness 32 HP:0003547
8 gowers sign 32 HP:0003391
9 muscle fiber splitting 32 HP:0003555
10 pelvic girdle muscle weakness 32 HP:0003749

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


waddling gait

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

Interventional clinical trials:


id Name Status NCT ID Phase
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:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1e 29
2 Limb-Girdle Muscular Dystrophy Type 1d 24
3 Limb-Girdle Muscular Dystrophy Type 1e 24 DNAJB6

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

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

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

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

66
id 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
id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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