MCID: CHL088
MIFTS: 8

Childhood-Onset Reducing Body Myopathy, X-Linked malady

Categories: Genetic diseases

Aliases & Classifications for Childhood-Onset Reducing Body Myopathy, X-Linked

Aliases & Descriptions for Childhood-Onset Reducing Body Myopathy, X-Linked:

Name: Childhood-Onset Reducing Body Myopathy, X-Linked 24 29
Myopathy, Reducing Body, X-Linked, Childhood-Onset 13

Classifications:



Summaries for Childhood-Onset Reducing Body Myopathy, X-Linked

MalaCards based summary : Childhood-Onset Reducing Body Myopathy, X-Linked, also known as myopathy, reducing body, x-linked, childhood-onset, is related to reducing body myopathy, x-linked 1a, severe, infantile or early childhood onset. An important gene associated with Childhood-Onset Reducing Body Myopathy, X-Linked is FHL1 (Four And A Half LIM Domains 1).

Related Diseases for Childhood-Onset Reducing Body Myopathy, X-Linked

Diseases related to Childhood-Onset Reducing Body Myopathy, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 reducing body myopathy, x-linked 1a, severe, infantile or early childhood onset 11.4

Symptoms & Phenotypes for Childhood-Onset Reducing Body Myopathy, X-Linked

Drugs & Therapeutics for Childhood-Onset Reducing Body Myopathy, X-Linked

Search Clinical Trials , NIH Clinical Center for Childhood-Onset Reducing Body Myopathy, X-Linked

Genetic Tests for Childhood-Onset Reducing Body Myopathy, X-Linked

Genetic tests related to Childhood-Onset Reducing Body Myopathy, X-Linked:

id Genetic test Affiliating Genes
1 Myopathy, Reducing Body, X-Linked, Childhood-Onset 29
2 Childhood-Onset Reducing Body Myopathy, X-Linked 24 FHL1

Anatomical Context for Childhood-Onset Reducing Body Myopathy, X-Linked

Publications for Childhood-Onset Reducing Body Myopathy, X-Linked

Variations for Childhood-Onset Reducing Body Myopathy, X-Linked

ClinVar genetic disease variations for Childhood-Onset Reducing Body Myopathy, X-Linked:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FHL1 NM_001159702.2(FHL1): c.457T> C (p.Cys153Arg) single nucleotide variant Pathogenic rs122458144 GRCh37 Chromosome X, 135290076: 135290076
2 FHL1 NM_001159702.2(FHL1): c.458G> A (p.Cys153Tyr) single nucleotide variant Pathogenic rs122458145 GRCh37 Chromosome X, 135290077: 135290077
3 FHL1 NM_001159702.2(FHL1): c.310T> C (p.Cys104Arg) single nucleotide variant Pathogenic rs122459147 GRCh37 Chromosome X, 135289328: 135289328
4 FHL1 FHL1, 9-BP DEL, NT451 deletion Pathogenic

Expression for Childhood-Onset Reducing Body Myopathy, X-Linked

Search GEO for disease gene expression data for Childhood-Onset Reducing Body Myopathy, X-Linked.

Pathways for Childhood-Onset Reducing Body Myopathy, X-Linked

GO Terms for Childhood-Onset Reducing Body Myopathy, X-Linked

Sources for Childhood-Onset Reducing Body Myopathy, X-Linked

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10 dbSNP
11 DGIdb
16 ExPASy
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65 SNOMED-CT via Orphanet
67 TGDB
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69 UMLS
70 UMLS via Orphanet
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