MCID: CHL088
MIFTS: 13

Childhood-Onset Reducing Body Myopathy, X-Linked malady

Genetic diseases (common) category
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Summaries for Childhood-Onset Reducing Body Myopathy, X-Linked

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

Description from OMIM:46 300718

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

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

Name: Childhood-Onset Reducing Body Myopathy, X-Linked 20 22
 
Myopathy, Reducing Body, X-Linked, Childhood-Onset 46


Classifications:

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


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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Symptoms by clinical synopsis from OMIM:

300718

Clinical features from OMIM:

300718

HPO human phenotypes related to Childhood-Onset Reducing Body Myopathy, X-Linked:

(show all 15)
id Description Frequency HPO Source Accession
1 dilated cardiomyopathy rare (5%) HP:0001644
2 short neck HP:0000470
3 hyporeflexia HP:0001265
4 flexion contracture HP:0001371
5 x-linked inheritance HP:0001417
6 frequent falls HP:0002359
7 scoliosis HP:0002650
8 respiratory insufficiency due to muscle weakness HP:0002747
9 kyphosis HP:0002808
10 elevated serum creatine phosphokinase HP:0003236
11 spinal rigidity HP:0003306
12 hyperlordosis HP:0003307
13 increased variability in muscle fiber diameter HP:0003557
14 rapidly progressive HP:0003678
15 proximal muscle weakness HP:0003701

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

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Drug clinical trials:

Search ClinicalTrials for Childhood-Onset Reducing Body Myopathy, X-Linked

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

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

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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-Linked20 FHL1
2 Myopathy, Reducing Body, X-Linked, Childhood-Onset22

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

6
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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Expression patterns in normal tissues for genes affiliated with Childhood-Onset Reducing Body Myopathy, X-Linked

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

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

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet