MCID: MYP035
MIFTS: 14

Myopathy, Distal, with Anterior Tibial Onset malady

Neuronal diseases, Rare diseases categories
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Summaries for Myopathy, Distal, with Anterior Tibial Onset

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MalaCards based summary: Myopathy, Distal, with Anterior Tibial Onset, also known as distal myopathy with anterior tibial onset, is related to muscular dystrophy and myopathy, and has symptoms including An important gene associated with Myopathy, Distal, with Anterior Tibial Onset is DYSF (dysferlin).

Description from OMIM:46 606768

Aliases & Classifications for Myopathy, Distal, with Anterior Tibial Onset

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Sources:
46OMIM, 62UMLS, 48Orphanet, 26ICD10 via Orphanet
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Myopathy, Distal, with Anterior Tibial Onset, Aliases & Descriptions:

Name: Myopathy, Distal, with Anterior Tibial Onset 46 62
Distal Myopathy with Anterior Tibial Onset 48
 
Distal Anterior Compartment Myopathy 48


Classifications:

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


External Ids:

OMIM46 606768
ICD10 via Orphanet26 G71.0

Related Diseases for Myopathy, Distal, with Anterior Tibial Onset

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Diseases related to Myopathy, Distal, with Anterior Tibial Onset via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy10.3
2myopathy10.3
3dysferlinopathy10.3

Symptoms for Myopathy, Distal, with Anterior Tibial Onset

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Symptoms by clinical synopsis from OMIM:

606768

Clinical features from OMIM:

606768

HPO human phenotypes related to Myopathy, Distal, with Anterior Tibial Onset:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 distal muscle weakness HP:0002460
3 elevated serum creatine phosphokinase HP:0003236
4 rapidly progressive HP:0003678
5 distal amyotrophy HP:0003693

Drugs & Therapeutics for Myopathy, Distal, with Anterior Tibial Onset

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Drug clinical trials:

Search ClinicalTrials for Myopathy, Distal, with Anterior Tibial Onset

Search NIH Clinical Center for Myopathy, Distal, with Anterior Tibial Onset

Genetic Tests for Myopathy, Distal, with Anterior Tibial Onset

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Anatomical Context for Myopathy, Distal, with Anterior Tibial Onset

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Animal Models for Myopathy, Distal, with Anterior Tibial Onset or affiliated genes

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Publications for Myopathy, Distal, with Anterior Tibial Onset

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Variations for Myopathy, Distal, with Anterior Tibial Onset

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Clinvar genetic disease variations for Myopathy, Distal, with Anterior Tibial Onset:

6
id Gene Name Type Significance SNP ID Assembly Location
1DYSFDYSF, 1-BP DEL, 5966GdeletionPathogenic
2DYSFNM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)single nucleotide variantPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372

Expression for genes affiliated with Myopathy, Distal, with Anterior Tibial Onset

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Expression patterns in normal tissues for genes affiliated with Myopathy, Distal, with Anterior Tibial Onset

Search GEO for disease gene expression data for Myopathy, Distal, with Anterior Tibial Onset.

Pathways for genes affiliated with Myopathy, Distal, with Anterior Tibial Onset

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Compounds for genes affiliated with Myopathy, Distal, with Anterior Tibial Onset

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GO Terms for genes affiliated with Myopathy, Distal, with Anterior Tibial Onset

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Products for genes affiliated with Myopathy, Distal, with Anterior Tibial Onset

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  • Antibodies
  • Proteins
  • Lysates

Sources for Myopathy, Distal, with Anterior Tibial Onset

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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