MCID: MYP035
MIFTS: 14

Myopathy, Distal, with Anterior Tibial Onset malady

Neuronal diseases, Rare diseases categories

Summaries for Myopathy, Distal, with Anterior Tibial Onset

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48OMIM, 34MalaCards
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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:48 606768

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

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Sources:
48OMIM, 50Orphanet, 27ICD10 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 48
distal myopathy with anterior tibial onset 50
distal anterior compartment myopathy 50


External Ids:

OMIM48 606768
ICD10 via Orphanet27 G71.0

Related Diseases for Myopathy, Distal, with Anterior Tibial Onset

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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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, 16Gene 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
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