MCID: MYS033
MIFTS: 37

Miyoshi Muscular Dystrophy 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Miyoshi Muscular Dystrophy 1

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OMIM:47 Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood... (254130) more...

MalaCards based summary: Miyoshi Muscular Dystrophy 1, also known as miyoshi myopathy, is related to myopathy and muscular dystrophy, and has symptoms including autosomal recessive inheritance, heterogeneous and distal muscle weakness. An important gene associated with Miyoshi Muscular Dystrophy 1 is DYSF (dysferlin). Affiliated tissues include skeletal muscle.

NIH Rare Diseases:43 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

Genetics Home Reference:23 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.

Aliases & Classifications for Miyoshi Muscular Dystrophy 1

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Miyoshi Muscular Dystrophy 1, Aliases & Descriptions:

Name: Miyoshi Muscular Dystrophy 1 47 11 62
Miyoshi Myopathy 43 23 45 49 24 62
Miyoshi Distal Myopathy 43 22 23
Muscular Dystrophy, Distal, Late Onset, Autosomal Recessive 43
 
Distal Muscular Dystrophy, Miyoshi Type 23
Miyoshi Muscular Dystrophy 23
Mmd 23
Mm 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
miyoshi myopathy:
Prevalence: 1-9/1000000 (Japan); Age of onset: Adult


External Ids:

OMIM47 254130
Orphanet49 45448
MESH via Orphanet36 C537480
ICD10 via Orphanet28 G71.0
UMLS via Orphanet63 C1850808

Related Diseases for Miyoshi Muscular Dystrophy 1

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Diseases in the Miyoshi Muscular Dystrophy 1 family:

Miyoshi Muscular Dystrophy 2 Miyoshi Muscular Dystrophy 3

Diseases related to Miyoshi Muscular Dystrophy 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy11.0
2muscular dystrophy10.7
3limb-girdle muscular dystrophy10.7
4miyoshi muscular dystrophy 310.7
5multiple myeloma10.6
6myeloma10.6
7miyoshi muscular dystrophy 210.6
8multiminicore disease10.5
9melanoma10.5
10dysferlinopathy10.4
11calpainopathy10.3
12distal muscular dystrophy10.3
13distal anoctaminopathy10.3
14myocardial infarction10.3
15adenocarcinoma10.3
16astigmatism10.3
17aneurysm10.3
18basal cell carcinoma10.2
19sarcoma10.2
20minicore myopathy with external ophthalmoplegia10.2
21microphthalmia, isolated 610.1
22acute myocardial infarction10.1
23otosclerosis10.1
24intracranial aneurysm10.1
25kuru10.1
26leukemia10.1
27clear cell sarcoma10.1
28cerebritis10.1
29trigeminal neuralgia10.1
30exotropia10.1
31monocytic leukemia10.1
32pancreatitis10.1
33prostate adenocarcinoma10.1
34prostatitis10.1
35retinitis10.1
36thyroiditis10.1
37hyperlipidemia type 310.1
38superficial spreading melanoma10.1
39endotheliitis10.1
40mesothelioma10.1
41emery-dreifuss muscular dystrophy, dominant type10.0
42emery-dreifuss muscular dystrophy, x-linked10.0
43methylmalonic acidemia10.0
44mood disorder10.0
45classic multiminicore myopathy10.0
46hepatocellular carcinoma9.9
47breast cancer9.9
48myelodysplastic syndrome9.9
49glaucoma 1, open angle, p9.9
50microcoria, congenital9.9

Graphical network of the top 20 diseases related to Miyoshi Muscular Dystrophy 1:



Diseases related to miyoshi muscular dystrophy 1

Symptoms for Miyoshi Muscular Dystrophy 1

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Symptoms by clinical synopsis from OMIM:

254130

Clinical features from OMIM:

254130

HPO human phenotypes related to Miyoshi Muscular Dystrophy 1:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 heterogeneous HP:0001425
3 distal muscle weakness HP:0002460
4 elevated serum creatine phosphokinase HP:0003236
5 difficulty climbing stairs HP:0003551
6 muscular dystrophy HP:0003560
7 adult onset HP:0003581
8 distal amyotrophy HP:0003693
9 deposits immunoreactive to beta-amyloid protein HP:0003791
10 lower limb muscle weakness HP:0007340
11 decreased achilles reflex HP:0009072
12 muscle fibrillation HP:0010546
13 decreased/absent ankle reflexes HP:0200101

Drugs & Therapeutics for Miyoshi Muscular Dystrophy 1

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Drug clinical trials:

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Search NIH Clinical Center for Miyoshi Muscular Dystrophy 1

Genetic Tests for Miyoshi Muscular Dystrophy 1

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Genetic tests related to Miyoshi Muscular Dystrophy 1:

id Genetic test Affiliating Genes
1 Miyoshi Distal Myopathy22
2 Miyoshi Myopathy24

Anatomical Context for Miyoshi Muscular Dystrophy 1

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MalaCards organs/tissues related to Miyoshi Muscular Dystrophy 1:

33
Skeletal muscle

Animal Models for Miyoshi Muscular Dystrophy 1 or affiliated genes

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Publications for Miyoshi Muscular Dystrophy 1

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Variations for Miyoshi Muscular Dystrophy 1

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UniProtKB/Swiss-Prot genetic disease variations for Miyoshi Muscular Dystrophy 1:

64 (show all 32)
id Symbol AA change Variation ID SNP ID
1DYSFp.Pro791ArgVAR_012308
2DYSFp.Ile1298ValVAR_012309rs121908954
3DYSFp.His1857ArgVAR_012310
4DYSFp.Arg2042CysVAR_012311
5DYSFp.Ala170GluVAR_024853rs34999029
6DYSFp.Gly299GluVAR_024857
7DYSFp.Cys456TrpVAR_024858
8DYSFp.Arg555TrpVAR_024859
9DYSFp.Arg959TrpVAR_024860
10DYSFp.Arg1046HisVAR_024863rs28939700
11DYSFp.Glu1335LysVAR_024868
12DYSFp.Arg1693GlnVAR_024870
13DYSFp.Arg2000GlnVAR_024872rs115407852
14DYSFp.Val67AspVAR_057835
15DYSFp.Gly299TrpVAR_057841
16DYSFp.Glu389GlnVAR_057846
17DYSFp.Gly426ArgVAR_057848
18DYSFp.Gly426ValVAR_057849
19DYSFp.Gly519ArgVAR_057850
20DYSFp.Gly618ArgVAR_057851
21DYSFp.Trp999CysVAR_057857rs28937581
22DYSFp.Pro1029LeuVAR_057858
23DYSFp.Arg1041CysVAR_057859
24DYSFp.Cys1361ArgVAR_057863
25DYSFp.Thr1662ArgVAR_057868
26DYSFp.Gly1679GluVAR_057870
27DYSFp.Arg1693TrpVAR_057871
28DYSFp.Asp1837AsnVAR_057874
29DYSFp.Gly1842AspVAR_057875
30DYSFp.Leu1922ProVAR_057876
31DYSFp.Cys1942GlyVAR_057878
32DYSFp.Pro2068LeuVAR_057881

Clinvar genetic disease variations for Miyoshi Muscular Dystrophy 1:

7
id Gene Variation Type Significance SNP ID Assembly Location
1DYSFNM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter)single nucleotide variantPathogenicrs121908953GRCh37Chr 2, 71780201: 71780201
2DYSFNM_001130978.1(DYSF): c.3892A> G (p.Ile1298Val)single nucleotide variantPathogenicrs121908954GRCh37Chr 2, 71829924: 71829924
3DYSFNM_001130978.1(DYSF): c.6187C> T (p.Arg2063Cys)single nucleotide variantPathogenicrs121908955GRCh37Chr 2, 71909727: 71909727
4DYSFNM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg)single nucleotide variantPathogenicrs121908956GRCh37Chr 2, 71791204: 71791204
5DYSFNM_001130978.1(DYSF): c.2997G> T (p.Trp999Cys)single nucleotide variantPathogenicrs28937581GRCh37Chr 2, 71797430: 71797430
6DYSFNM_001130978.1(DYSF): c.3137G> A (p.Arg1046His)single nucleotide variantPathogenicrs121908958GRCh37Chr 2, 71797834: 71797834
7DYSFNM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)single nucleotide variantPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372
8DYSFNM_001130978.1(DYSF): c.1555G> A (p.Gly519Arg)single nucleotide variantPathogenicrs121908962GRCh37Chr 2, 71778203: 71778203
9DYSFNM_001130978.1(DYSF): c.895G> T (p.Gly299Trp)single nucleotide variantPathogenicrs121908963GRCh37Chr 2, 71744158: 71744158

Expression for genes affiliated with Miyoshi Muscular Dystrophy 1

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Search GEO for disease gene expression data for Miyoshi Muscular Dystrophy 1.

Pathways for genes affiliated with Miyoshi Muscular Dystrophy 1

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Compounds for genes affiliated with Miyoshi Muscular Dystrophy 1

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GO Terms for genes affiliated with Miyoshi Muscular Dystrophy 1

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Products for genes affiliated with Miyoshi Muscular Dystrophy 1

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Sources for Miyoshi Muscular Dystrophy 1

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet