MCID: MYP035
MIFTS: 21

Myopathy, Distal, with Anterior Tibial Onset malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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

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

Name: Myopathy, Distal, with Anterior Tibial Onset 50 12
Distal Myopathy with Anterior Tibial Onset 52 68 25
 
Distal Anterior Compartment Myopathy 52
Dmat 68

Characteristics:

Orphanet epidemiological data:

52
distal myopathy with anterior tibial onset:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

62
myopathy, distal, with anterior tibial onset:
Inheritance: autosomal recessive inheritance
Onset and clinical course: rapidly progressive


Classifications:



External Ids:

OMIM50 606768
Orphanet52 ORPHA178400
ICD10 via Orphanet29 G71.0
MedGen35 C1847532

Summaries for Myopathy, Distal, with Anterior Tibial Onset

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UniProtKB/Swiss-Prot:68 Distal myopathy with anterior tibial onset: Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive.

MalaCards based summary: Myopathy, Distal, with Anterior Tibial Onset, also known as distal myopathy with anterior tibial onset, is related to dysferlinopathy and breast cancer, and has symptoms including distal muscle weakness, elevated serum creatine phosphokinase and distal amyotrophy. An important gene associated with Myopathy, Distal, with Anterior Tibial Onset is DYSF (Dysferlin).

Description from OMIM:50 606768

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
1dysferlinopathy10.2
2breast cancer10.0
3myopathy10.0
4muscular dystrophy10.0
5miyoshi muscular dystrophy 19.5DYSF, MMD
6myopathy, distal, with anterior tibial onset9.4DYSF, MMD
7muscular dystrophy, limb-girdle, type 2b9.2DYSF, MMD

Graphical network of diseases related to Myopathy, Distal, with Anterior Tibial Onset:



Diseases related to myopathy, distal, with anterior tibial onset

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 distal muscle weakness HP:0002460
2 elevated serum creatine phosphokinase HP:0003236
3 distal amyotrophy HP:0003693

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

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Interventional clinical trials:

Search ClinicalTrials, 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 Onset25

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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DYSFNM_003494.3(DYSF): c.1956G> A (p.Trp652Ter)single nucleotide variantPathogenicrs794727343GRCh37Chr 2, 71780962: 71780962
2DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionPathogenicrs863224867GRCh37Chr 2, 71817414: 71817415
3DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionPathogenicrs863224867GRCh37Chr 2, 71817414: 71817415
4DYSFNM_003494.3(DYSF): c.5594delG (p.Gly1865Alafs)deletionPathogenicrs786205081GRCh37Chr 2, 71896803: 71896803
5DYSFNM_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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GO Terms for genes affiliated with Myopathy, Distal, with Anterior Tibial Onset

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Sources for Myopathy, Distal, with Anterior Tibial Onset

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet