MCID: ATS136
MIFTS: 13

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases categories
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Summaries for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

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MalaCards based summary: Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e, also known as muscular dystrophy, limb-girdle, type 1e, is related to myofibrillar myopathy and limb-girdle muscular dystrophy, type 1a. An important gene associated with Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e is DNAJB6 (DnaJ (Hsp40) homolog, subfamily B, member 6).

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

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Sources:
62UMLS, 48Orphanet, 26ICD10 via Orphanet
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Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e, Aliases & Descriptions:

Name: Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 48
Muscular Dystrophy, Limb-Girdle, Type 1e 62
 
Lgmd1e 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

48
autosomal dominant limb-girdle muscular dystrophy type 1e:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood


External Ids:

ICD10 via Orphanet26 G71.0

Related Diseases for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

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Diseases in the Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h family:

Limb-Girdle Muscular Dystrophies, Autosomal Dominant autosomal dominant limb-girdle muscular dystrophy type 1e

Diseases related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myofibrillar myopathy10.2DES
2limb-girdle muscular dystrophy, type 1a10.1
3limb-girdle muscular dystrophy type 1e10.1

Symptoms for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

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

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Drug clinical trials:

Search ClinicalTrials for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

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

Genetic Tests for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

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Anatomical Context for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

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

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Publications for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

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Variations for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

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

6
id Gene Name Type Significance SNP ID Assembly Location
1DNAJB6NM_058246.3(DNAJB6): c.277T> C (p.Phe93Leu)single nucleotide variantPathogenicrs387907046GRCh37Chr 7, 157160108: 157160108
2DNAJB6NM_058246.3(DNAJB6): c.287C> G (p.Pro96Arg)single nucleotide variantPathogenicrs387907047GRCh37Chr 7, 157160118: 157160118
3DNAJB6NM_058246.3(DNAJB6): c.279C> G (p.Phe93Leu)single nucleotide variantPathogenicrs149278319GRCh37Chr 7, 157160110: 157160110
4DNAJB6NM_058246.3(DNAJB6): c.279C> A (p.Phe93Leu)single nucleotide variantPathogenicrs149278319GRCh37Chr 7, 157160110: 157160110
5DNAJB6NM_058246.3(DNAJB6): c.265T> A (p.Phe89Ile)single nucleotide variantPathogenicrs387907150GRCh37Chr 7, 157160096: 157160096

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

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Expression patterns in normal tissues for genes affiliated with Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

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

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

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Compounds for genes affiliated with Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

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

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Cellular components related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:0300189.1DNAJB6, DES

Products for genes affiliated with Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

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  • Antibodies
  • Proteins
  • Lysates

Sources for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet