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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47OMIM, 33MalaCards
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MalaCards: Myopathy, Distal, with Anterior Tibial Onset, also known as distal myopathy with anterior tibial onset, is related to muscular dystrophy and myopathy. An important gene associated with Myopathy, Distal, with Anterior Tibial Onset is DYSF (dysferlin).

Description from OMIM:47 606768

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

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47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

myopathy, distal, with anterior tibial onset 47
distal myopathy with anterior tibial onset 49
distal anterior compartment myopathy 49


External Ids:

OMIM47 606768
ICD10 via Orphanet26 G71.0

Related Diseases for Myopathy, Distal, with Anterior Tibial Onset

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17GeneCards, 18GeneDecks
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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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47OMIM
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Symptoms by clinical synopsis from OMIM:

606768

Clinical features from OMIM:

606768

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

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42NIH Clinical Center, 6ClinicalTrials
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Myopathy, Distal, with Anterior Tibial Onset:

1
id Gene Name Type Significance SNP ID Assembly Location
1DYSFNM_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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2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Myopathy, Distal, with Anterior Tibial Onset

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet