MM
MCID: MYS006
MIFTS: 29

Miyoshi Myopathy (MM) malady

Muscle diseases category

Summaries for Miyoshi Myopathy

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Miyoshi myopathy is a type of muscular dystrophy characterized by muscle weakness and atrophy (wasting), mainly in the distal parts of the legs. the first symptoms typically begin in young adulthood (on average 20 years of age) and include weakness and atrophy of the calves (sometimes asymmetrically), leading to inability to jump, run or walk on tiptoes. over a period of years, the weakness and atrophy typically spread to the thighs and gluteal muscles. the forearms may become mildly atrophic with decrease in grip strength. it is caused by mutations in the dysf gene and is inherited in an autosomal recessive manner. management may include physical therapy, use of mechanical aids, surgical intervention for orthopedic complications, respiratory aids, and social and emotional support. last updated: 4/5/2011

MalaCards: Miyoshi Myopathy, also known as miyoshi distal myopathy, is related to myopathy and muscular dystrophy. An important gene associated with Miyoshi Myopathy is DYSF (dysferlin). The compound creatinine have been mentioned in the context of this disorder. Related mouse phenotype muscle.

Genetics Home Reference:21 Miyoshi myopathy is a muscle disorder that primarily affects muscles away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.

Wikipedia:63 Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the... more...

Aliases & Classifications for Miyoshi Myopathy

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42NIH Rare Diseases, 22GTR, 44Novoseek, 60UMLS, 20GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Muscle diseases


Aliases & Descriptions:

miyoshi myopathy 42 22 44 60
miyoshi distal myopathy 42 20
muscular dystrophy, distal, late onset, autosomal recessive 42
mm 42


Related Diseases for Miyoshi Myopathy

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17GeneCards, 18GeneDecks
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Diseases related to Miyoshi Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.3CHKB, SGCA, DYSF, CAPN3
2muscular dystrophy30.9DYSF, CAPN3, MYOF, SGCA, CHKB
3limb-girdle muscular dystrophy30.9CAPN3, DYSF, SGCA
4dysferlinopathy30.5DYSF
5calpainopathy30.3CAPN3, DYSF, SGCA
6distal muscular dystrophy30.2CAPN3, DYSF
7dilated cardiomyopathy29.7SGCA, CHKB
8multiple myeloma10.5
9myeloma10.5
10melanoma10.4
11adenocarcinoma10.2
12astigmatism10.2
13malignant mesothelioma10.2
14myocardial infarction10.2
15miyoshi muscular dystrophy 110.1
16myasthenia, congenital, with tubular aggregates 110.1
17acute myocardial infarction10.1
18sarcoma10.1
19otosclerosis10.1
20intracranial aneurysm10.1
21microphthalmia, isolated 610.1
22cerebritis10.0
23small cell carcinoma10.0
24clear cell sarcoma10.0
25trigeminal neuralgia10.0
26basal cell carcinoma10.0
27exotropia10.0
28leukemia10.0
29monocytic leukemia10.0
30pancreatitis10.0
31prostate adenocarcinoma10.0
32prostatitis10.0
33retinitis10.0
34thyroiditis10.0
35hyperlipidemia type 310.0
36limb-girdle muscular dystrophy type 2h10.0CAPN3, DYSF
37limb-girdle muscular dystrophy, type 2g10.0DYSF, CAPN3
38limb-girdle muscular dystrophy, type 1a10.0CAPN3, DYSF
39protein s deficiency10.0DYSF, CAPN3
40myopathy congenital10.0CHKB, DYSF
41polymyositis10.0DYSF, CHKB
42muscular dystrophy-dystroglycanopathy , type c, 510.0CAPN3, DYSF, CHKB
43becker muscular dystrophy10.0DYSF, SGCA
44myositis10.0CHKB, DYSF, CAPN3
45limb-girdle muscular dystrophy type 2e10.0CAPN3, DYSF, SGCA
46duchenne muscular dystrophy10.0SGCA, CHKB
47limb-girdle muscular dystrophy type 2f10.0DYSF, SGCA, CAPN3
48neuropathy10.0CAPN3, DYSF, SGCA
49noonan syndrome10.0CHKB, DYSF, SGCA
50neuromuscular disease10.0CHKB, DCTN1, DYSF, CAPN3

Graphical network of the top 20 diseases related to Miyoshi Myopathy:



Diseases related to miyoshi myopathy

Clinical Features for Miyoshi Myopathy

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Drugs & Therapeutics for Miyoshi Myopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Miyoshi Myopathy

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20GeneTests, 22GTR
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Genetic tests related to Miyoshi Myopathy:

id Genetic test Affiliating Genes
1 Miyoshi Distal Myopathy20
2 Miyoshi Myopathy22

Anatomical Context for Miyoshi Myopathy

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Animal Models for Miyoshi Myopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Miyoshi Myopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.9SGCA, MYOF, CHKB, DYSF, CAPN3

Publications for Miyoshi Myopathy

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Genetic Variations for Miyoshi Myopathy

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Expression for genes affiliated with Miyoshi Myopathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Miyoshi Myopathy

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Pathways for genes affiliated with Miyoshi Myopathy

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Compounds for genes affiliated with Miyoshi Myopathy

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44Novoseek
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Compounds related to Miyoshi Myopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1creatinine448.4SGCA, CHKB, DYSF, CAPN3

GO Terms for genes affiliated with Miyoshi Myopathy

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16Gene Ontology
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Cellular components related to Miyoshi Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicle membraneGO:0306599.6MYOF, DYSF
2T-tubuleGO:0303159.4DYSF, CAPN3

Biological processes related to Miyoshi Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membrane repairGO:0017789.5MYOF, DYSF
2muscle contractionGO:0069369.1SGCA, MYOF
3muscle organ developmentGO:0075178.9SGCA, CAPN3

Products for genes affiliated with Miyoshi Myopathy

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Sources for Miyoshi Myopathy

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet