MCID: CHL088
MIFTS: 13

Childhood-Onset Reducing Body Myopathy, X-Linked malady

Genetic diseases (common) category

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

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Sources:
48OMIM, 34MalaCards
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MalaCards: Childhood-Onset Reducing Body Myopathy, X-Linked, is also known as myopathy, reducing body, x-linked, childhood-onset An important gene associated with Childhood-Onset Reducing Body Myopathy, X-Linked is FHL1 (four and a half LIM domains 1).

Description from OMIM:48 300718

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

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Sources:
21GeneTests, 23GTR, 48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

childhood-onset reducing body myopathy, x-linked 21 23
myopathy, reducing body, x-linked, childhood-onset 48


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

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

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

300718

Clinical features from OMIM:

300718

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

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

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Drug clinical trials:

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

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Childhood-Onset Reducing Body Myopathy, X-Linked:

id Genetic test Affiliating Genes
1 Childhood-Onset Reducing Body Myopathy, X-Linked21 FHL1
2 Myopathy, Reducing Body, X-Linked, Childhood-Onset23

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

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Animal Models for Childhood-Onset Reducing Body Myopathy, X-Linked or affiliated genes

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

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

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Childhood-Onset Reducing Body Myopathy, X-Linked:

1
id Gene Name Type Significance SNP ID Assembly Location
1FHL1NM_001159702.2(FHL1): c.457T> C (p.Cys153Arg)single nucleotide variantPathogenicrs122458144GRCh37Chr X, 135290076: 135290076
2FHL1NM_001159702.2(FHL1): c.458G> A (p.Cys153Tyr)single nucleotide variantPathogenicrs122458145GRCh37Chr X, 135290077: 135290077
3FHL1NM_001159702.2(FHL1): c.310T> C (p.Cys104Arg)single nucleotide variantPathogenicrs122459147GRCh37Chr X, 135289328: 135289328
4FHL1FHL1, 9-BP DEL, NT451deletionPathogenic

Expression for genes affiliated with Childhood-Onset Reducing Body Myopathy, 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 Childhood-Onset Reducing Body Myopathy, X-Linked

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Pathways for genes affiliated with Childhood-Onset Reducing Body Myopathy, X-Linked

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Compounds for genes affiliated with Childhood-Onset Reducing Body Myopathy, X-Linked

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

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Products for genes affiliated with Childhood-Onset Reducing Body Myopathy, X-Linked

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Childhood-Onset Reducing Body Myopathy, 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