MCID: MSC117
MIFTS: 26

Muscular Dystrophy, Limb-Girdle, Type 1e malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle 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 50 12 66
Limb-Girdle Muscular Dystrophy 1e 68 25
Lgmd1d 52 68
Lgmd1e 23 68
 
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d 52
Limb-Girdle Muscular Dystrophy Type 1d 68
Limb-Girdle Muscular Dystrophy Type 1e 23
Lgmd 1e 23

Characteristics:

Orphanet epidemiological data:

52
lgmd1d:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood

HPO:

62
muscular dystrophy, limb-girdle, type 1e:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, slow progression


Classifications:



External Ids:

OMIM50 603511
Orphanet52 ORPHA34516
ICD10 via Orphanet29 G71.0
MedGen35 C3148763
MeSH37 D049288

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

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OMIM:50 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 limb-girdle muscular dystrophy 1e, is related to autosomal dominant limb-girdle muscular dystrophy type 1e and limb-girdle muscular dystrophy type 1d, and has symptoms including waddling gait, waddling gait and dysphagia. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 1e is DNAJB6 (DnaJ Heat Shock Protein Family (Hsp40) Member B6).

UniProtKB/Swiss-Prot:68 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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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 dysphagia HP:0002015
2 waddling gait HP:0002515
3 elevated serum creatine phosphokinase HP:0003236
4 gowers sign HP:0003391
5 shoulder girdle muscle weakness HP:0003547
6 difficulty climbing stairs HP:0003551
7 muscle fiber splitting HP:0003555
8 muscular dystrophy HP:0003560
9 pelvic girdle muscle weakness HP:0003749
10 rimmed vacuoles HP:0003805

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


waddling gait

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 1e25
2 Limb-Girdle Muscular Dystrophy Type 1e23 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:

68
id Symbol AA change Variation ID SNP ID
1DNAJB6p.Phe89IleVAR_067833rs387907150
2DNAJB6p.Phe93LeuVAR_067834rs387907046
3DNAJB6p.Pro96ArgVAR_067835rs387907047

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> G (p.Phe100Val)single nucleotide variantPathogenicrs869320700GRCh37Chr 7, 157160129: 157160129
2DNAJB6NM_058246.3(DNAJB6): c.271T> A (p.Phe91Ile)single 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet