MCID: ATS136
MIFTS: 15

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e malady

Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases, Metabolic diseases categories

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 muscular dystrophy, limb-girdle, 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:
60UMLS, 47Orphanet, 26ICD10 via Orphanet
See all sources

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

Name: Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 47
Muscular Dystrophy, Limb-Girdle, Type 1e 60
 
Lgmd1e 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
autosomal dominant limb-girdle muscular dystrophy type 1e:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult


External Ids:

Orphanet47 34517
ICD10 via Orphanet26 G71.0

Related Diseases for Autosomal Dominant Limb-Girdle Muscular Dystrophy 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 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
Muscular Dystrophy, Limb-Girdle, Type Ic Limb-Girdle Muscular Dystrophies, Autosomal Dominant
Limb-Girdle Muscular Dystrophy Type 1d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d
autosomal dominant limb-girdle muscular dystrophy type 1e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k

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

idRelated DiseaseScoreTop Affiliating Genes
1myofibrillar myopathy10.2DES
2muscular dystrophy, limb-girdle, type 1a10.1
3muscular dystrophy, limb-girdle, 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 Variation 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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:00300189.1DNAJB6, DES

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet