EDMD6
MCID: FHL001
MIFTS: 10

Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked (EDMD6) malady

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

Aliases & Classifications for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

Aliases & Descriptions for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked:

Name: Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked 24
Emery-Dreifuss Muscular Dystrophy 6 24 29
Emery-Dreifuss Muscular Dystrophy 6, X-Linked 69
Edmd6 24

Classifications:



Summaries for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

MalaCards based summary : Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked, also known as emery-dreifuss muscular dystrophy 6, is related to emery-dreifuss muscular dystrophy 1, x-linked and myopathy, x-linked, with postural muscle atrophy. An important gene associated with Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked is FHL1 (Four And A Half LIM Domains 1).

Related Diseases for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

Diseases in the Emery-Dreifuss Muscular Dystrophy, X-Linked family:

Emery-Dreifuss Muscular Dystrophy 1, X-Linked Emd-Related Emery-Dreifuss Muscular Dystrophy, X-Linked
Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

Diseases related to Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 1, x-linked 10.9
2 myopathy, x-linked, with postural muscle atrophy 10.8

Symptoms & Phenotypes for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

Drugs & Therapeutics for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

Search Clinical Trials , NIH Clinical Center for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

Genetic Tests for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

Genetic tests related to Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked:

id Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 6 29
2 Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked 24 FHL1

Anatomical Context for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

Publications for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

Variations for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

ClinVar genetic disease variations for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FHL1 NM_001449.4(FHL1): c.841T> G (p.Ter281Glu) single nucleotide variant Pathogenic rs122459148 GRCh37 Chromosome X, 135292182: 135292182
2 FHL1 NM_001159702.2(FHL1): c.625T> C (p.Cys209Arg) single nucleotide variant Pathogenic rs122459149 GRCh37 Chromosome X, 135290737: 135290737
3 FHL1 FHL1, 1-BP INS, NT817 insertion Pathogenic

Expression for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

Search GEO for disease gene expression data for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked.

Pathways for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

GO Terms for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

Sources for Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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70 UMLS via Orphanet
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