MCID: ERL010
MIFTS: 22

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

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Early-Onset Severe Reducing Body Myopathy, X-Linked

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MalaCards based summary: 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, and has symptoms including An important gene associated with Early-Onset Severe Reducing Body Myopathy, X-Linked is FHL1 (four and a half LIM domains 1).

Descriptions from OMIM:46 300717,300718

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

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Sources:
48Orphanet, 20GeneTests, 22GTR, 46OMIM, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Early-Onset Severe Reducing Body Myopathy, X-Linked, Aliases & Descriptions:

Name: 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 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet26 G71.2
UMLS via Orphanet63 C0270970

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

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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 myopathy10.8
2myopathy10.8
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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Symptoms by clinical synopsis from OMIM:

300717

Clinical features from OMIM:

300717,300718

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

(show all 9)
id Description Frequency HPO Source Accession
1 hyporeflexia HP:0001265
2 areflexia HP:0001284
3 flexion contracture HP:0001371
4 x-linked dominant inheritance HP:0001423
5 respiratory insufficiency due to muscle weakness HP:0002747
6 elevated serum creatine phosphokinase HP:0003236
7 increased variability in muscle fiber diameter HP:0003557
8 rapidly progressive HP:0003678
9 proximal muscle weakness HP:0003701

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

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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

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

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

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

64
id Symbol AA change Variation ID SNP ID
1FHL1p.His123TyrVAR_045999
2FHL1p.Cys132PheVAR_046000
3FHL1p.Cys153ArgVAR_046001
4FHL1p.Cys153TyrVAR_046002

Clinvar genetic disease variations for Early-Onset Severe 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 Early-Onset Severe Reducing Body Myopathy, X-Linked

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet