MCID: MSC117
MIFTS: 27

Muscular Dystrophy, Limb-Girdle, Type 1e malady

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 1e 49 11 65
Lgmd1e 45 22 51 67
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 45 51
Limb-Girdle Muscular Dystrophy Type 1e 45 22
Limb-Girdle Muscular Dystrophy 1e 67 24
 
Muscular Dystrophy, Limb-Girdle, Type 1d 65
Limb-Girdle Muscular Dystrophy Type 1d 67
Lgmd 1e 22
Lgmd1d 67

Characteristics:

Orphanet epidemiological data:

51
lgmd1e:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult

HPO:

61
muscular dystrophy, limb-girdle, type 1e:
Onset and clinical course: slow progression, adult onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 603511
Orphanet51 34517
ICD10 via Orphanet28 G71.0
MedGen34 C3148763
MeSH36 D049288
UMLS65 C3148763, C3501858

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

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OMIM:49 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 lgmd1e, is related to limb-girdle muscular dystrophy type 1d and myopathy, myofibrillar, 1, and has symptoms including rimmed vacuoles, pelvic girdle muscle weakness and muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 1e is DNAJB6 (DnaJ Heat Shock Protein Family (Hsp40) Member B6).

UniProtKB/Swiss-Prot:67 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

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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 Limb-Girdle Muscular Dystrophy Type 1d
Limb-Girdle Muscular Dystrophies, Autosomal Dominant Limb-Girdle Muscular Dystrophies, Autosomal Recessive
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

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

idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy type 1d12.9
2myopathy, myofibrillar, 111.8
3muscular dystrophy, limb-girdle, type 1a10.3
4autoimmune thyroid disease 29.8DES, DNAJB6
5cardiomyopathy with or without skeletal myopathy9.7CMD1F, DES
6myopathy with deficiency of iscu9.6DES, DNAJB6
7schizophrenia 169.3CMD1F, DES, DNAJB6

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



Diseases related to muscular dystrophy, limb-girdle, type 1e

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

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Symptoms by clinical synopsis from OMIM:

603511

Clinical features from OMIM:

603511

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

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

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 1e22 DNAJB6

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

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Animal Models for Muscular Dystrophy, Limb-Girdle, Type 1e or affiliated genes

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

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

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

67
id Symbol AA change Variation ID SNP ID
1DNAJB6p.Phe89IleVAR_067833
2DNAJB6p.Phe93LeuVAR_067834
3DNAJB6p.Pro96ArgVAR_067835

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1DNAJB6NM_058246.3(DNAJB6): c.298T> Gsingle nucleotide variantPathogenicrs869320700GRCh37Chr 7, 157160129: 157160129
2DNAJB6NM_058246.3(DNAJB6): c.271T> Asingle nucleotide variantPathogenicrs869320701GRCh37Chr 7, 157160102: 157160102
3DNAJB6NM_058246.3(DNAJB6): c.273C> G (p.Phe91Leu)single nucleotide variantPathogenicrs759982570GRCh38Chr 7, 157367410: 157367410
4DNAJB6NM_058246.3(DNAJB6): c.346+5G> Asingle nucleotide variantPathogenicrs869320702GRCh38Chr 7, 157367488: 157367488
5DNAJB6NM_058246.3(DNAJB6): c.277T> C (p.Phe93Leu)single nucleotide variantPathogenicrs387907046GRCh37Chr 7, 157160108: 157160108
6DNAJB6NM_058246.3(DNAJB6): c.287C> G (p.Pro96Arg)single nucleotide variantPathogenicrs387907047GRCh37Chr 7, 157160118: 157160118
7DNAJB6NM_058246.3(DNAJB6): c.279C> G (p.Phe93Leu)single nucleotide variantPathogenicrs149278319GRCh37Chr 7, 157160110: 157160110
8DNAJB6NM_058246.3(DNAJB6): c.279C> A (p.Phe93Leu)single nucleotide variantPathogenicrs149278319GRCh37Chr 7, 157160110: 157160110
9DNAJB6NM_058246.3(DNAJB6): c.265T> A (p.Phe89Ile)single nucleotide variantPathogenicrs387907150GRCh37Chr 7, 157160096: 157160096

Expression for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 1e

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

Pathways for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 1e

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

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet