MCID: ERL010
MIFTS: 22

Early-Onset Severe Reducing Body Myopathy, X-Linked malady

Neuronal diseases, Ear diseases categories

Summaries for Early-Onset Severe Reducing Body Myopathy, X-Linked

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46OMIM, 32MalaCards
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MalaCards: Early-Onset Severe Reducing Body Myopathy, X-Linked, also known as myopathy, reducing body, x-linked, severe early-onset, is related to childhood-onset reducing body myopathy, x-linked. An important gene associated with Early-Onset Severe Reducing Body Myopathy, X-Linked is FHL1 (four and a half LIM domains 1).

Description from OMIM:46 300717,300718

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

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

48
reducing body myopathy:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

early-onset severe reducing body myopathy, x-linked 20 22
myopathy, reducing body, x-linked, severe early-onset 46
reducing body myopathy 48
reducing-body myopathy 60


External Ids:

ICD10 via Orphanet26 G71.2
SNOMED-CT via Orphanet57 42779002
UMLS via Orphanet61 C0270970

Related Diseases for Early-Onset Severe Reducing Body Myopathy, X-Linked

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17GeneCards, 18GeneDecks
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Diseases related to Early-Onset Severe Reducing Body Myopathy, X-Linked via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1childhood-onset reducing body myopathy, x-linked10.4

Clinical Features for Early-Onset Severe Reducing Body Myopathy, X-Linked

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46OMIM
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Clinical features from OMIM:

300717,300718

Clinical synopsis from OMIM:

300717

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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Early-Onset Severe Reducing Body Myopathy, X-Linked

Drug clinical trials:

Search ClinicalTrials for Early-Onset Severe Reducing Body Myopathy, X-Linked

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

Search CenterWatch for Early-Onset Severe Reducing Body Myopathy, X-Linked

Genetic Tests for Early-Onset Severe Reducing Body Myopathy, X-Linked

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Early-Onset Severe Reducing Body Myopathy, X-Linked:

id Genetic test Affiliating Genes
1 Early-Onset Severe Reducing Body Myopathy, X-Linked20 FHL1
2 Myopathy, Reducing Body, X-Linked, Early-Onset, Severe22

Anatomical Context for Early-Onset Severe Reducing Body Myopathy, X-Linked

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

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Publications for Early-Onset Severe Reducing Body Myopathy, X-Linked

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Genetic Variations for Early-Onset Severe Reducing Body Myopathy, X-Linked

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Early-Onset Severe Reducing Body Myopathy, X-Linked:

62
id Symbol AA change Variation ID SNP ID
1FHL1p.His123TyrVAR_045999
2FHL1p.Cys132PheVAR_046000
3FHL1p.Cys153ArgVAR_046001
4FHL1p.Cys153TyrVAR_046002

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

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Early-Onset Severe Reducing Body Myopathy, X-Linked

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

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Early-Onset Severe 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet