MCID: EMR016
MIFTS: 12

Emery-Dreifuss Muscular Dystrophy 6, X-Linked malady

Genetic diseases, Muscle diseases, Rare diseases categories

Summaries for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Sources:
48OMIM, 34MalaCards
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MalaCards: Emery-Dreifuss Muscular Dystrophy 6, X-Linked, also known as autosomal recessive emery-dreifuss muscular dystrophy, is related to fhl1-related emery-dreifuss muscular dystrophy, x-linked. An important gene associated with Emery-Dreifuss Muscular Dystrophy 6, X-Linked is FHL1 (four and a half LIM domains 1).

Description from OMIM:48 300696

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Sources:
63UMLS, 48OMIM
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Classifications:

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


Aliases & Descriptions:

emery-dreifuss muscular dystrophy 6, x-linked 48
autosomal recessive emery-dreifuss muscular dystrophy 63
autosomal dominant emery-dreifuss muscular dystrophy 63
emery-dreifuss muscular dystrophy 3 63
muscular dystrophy, emery-dreifuss 63


Related Diseases for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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18GeneCards, 19GeneDecks
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Diseases in the Emery-Dreifuss Muscular Dystrophy 1, X-Linked family:

Emery-Dreifuss Muscular Dystrophy, X-Linked Emd-Related Emery-Dreifuss Muscular Dystrophy, X-Linked
Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked emery-dreifuss muscular dystrophy 6, x-linked

Diseases related to Emery-Dreifuss Muscular Dystrophy 6, X-Linked via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1fhl1-related emery-dreifuss muscular dystrophy, x-linked10.6

Symptoms for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Sources:
48OMIM
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Clinical features from OMIM:

300696

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

Drug clinical trials:

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Search NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

Search CenterWatch for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Anatomical Context for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Animal Models for Emery-Dreifuss Muscular Dystrophy 6, X-Linked or affiliated genes

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Publications for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Variations for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 6, X-Linked:

65
id Symbol AA change Variation ID SNP ID
1FHL1p.Cys224TrpVAR_042605

Clinvar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 6, X-Linked:

1
id Gene Name Type Significance SNP ID Assembly Location
1FHL1NM_001159702.2(FHL1): c.672C> G (p.Cys224Trp)single nucleotide variantPathogenicrs122458141GRCh37Chr X, 135290784: 135290784
2FHL1FHL1, 3-BP INS, 381ATCinsertionPathogenic
3FHL1NM_001159702.2(FHL1): c.838G> A (p.Val280Met)single nucleotide variantPathogenicrs267606811GRCh37Chr X, 135291551: 135291551
4FHL1FHL1, IVS4DS, G-A, +1single nucleotide variantPathogenic

Expression for genes affiliated with Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Emery-Dreifuss Muscular Dystrophy 6, X-Linked

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 6, X-Linked.

Pathways for genes affiliated with Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Compounds for genes affiliated with Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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GO Terms for genes affiliated with Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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Products for genes affiliated with Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet