MCID: MYP035
MIFTS: 17

Myopathy, Distal, with Anterior Tibial Onset malady

Genetic diseases, Neuronal diseases, Rare diseases categories

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 autosomal recessive inheritance, distal muscle weakness and elevated serum creatine phosphokinase. An important gene associated with Myopathy, Distal, with Anterior Tibial Onset is DYSF (dysferlin).

Description from OMIM:45 606768

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

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Sources:
45OMIM, 10diseasecard, 60UMLS, 47Orphanet, 22GTR, 26ICD10 via Orphanet
See all sources

Myopathy, Distal, with Anterior Tibial Onset, Aliases & Descriptions:

Name: Myopathy, Distal, with Anterior Tibial Onset 45 10 60
Distal Myopathy with Anterior Tibial Onset 47 22
 
Distal Anterior Compartment Myopathy 47


Classifications:

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


External Ids:

OMIM45 606768
Orphanet47 178400
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 Suite 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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Genetic tests related to Myopathy, Distal, with Anterior Tibial Onset:

id Genetic test Affiliating Genes
1 Myopathy, Distal, with Anterior Tibial Onset22

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 Variation 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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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
  • Proteins
  • Kits and Assays

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet