MCID: ERL010
MIFTS: 23

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

Genetic diseases, Neuronal diseases, Rare diseases categories

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

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Sources:
48OMIM, 34MalaCards
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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 reducing body myopathy and myopathy. 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:48 300717,300718

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

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Sources:
21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
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 21 23
myopathy, reducing body, x-linked, severe early-onset 48
reducing body myopathy 50
reducing-body myopathy 63


External Ids:

ICD10 via Orphanet27 G71.2
SNOMED-CT via Orphanet60 42779002
UMLS via Orphanet64 C0270970

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

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Sources:
18GeneCards, 19GeneDecks
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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
1reducing body myopathy10.7
2myopathy10.7
3childhood-onset reducing body myopathy, x-linked10.4
4rigid spine syndrome10.1

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

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

300717

Clinical features from OMIM:

300717,300718

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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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:
21GeneTests, 23GTR
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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-Linked21 FHL1
2 Myopathy, Reducing Body, X-Linked, Early-Onset, Severe23

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

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Sources:
65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Early-Onset Severe Reducing Body Myopathy, X-Linked:

65
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:
2BioGPS, 16Gene 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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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