MCID: MYS033
MIFTS: 40

Miyoshi Muscular Dystrophy 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Miyoshi Muscular Dystrophy 1

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Miyoshi Muscular Dystrophy 1:

Name: Miyoshi Muscular Dystrophy 1 50 68 25 12
Miyoshi Myopathy 46 23 24 52 68 25 48 66
Miyoshi Distal Myopathy 46 23 24
Muscular Dystrophy, Distal, Late Onset, Autosomal Recessive 46
Muscular Dystrophy Distal Late-Onset Autosomal Recessive 68
 
Distal Muscular Dystrophy, Miyoshi Type 24
Miyoshi Muscular Dystrophy 24
Mmd1 68
Mmd 24
Mm 46

Characteristics:

Orphanet epidemiological data:

52
miyoshi myopathy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Adult

HPO:

62
miyoshi muscular dystrophy 1:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: adult onset


Classifications:



External Ids:

OMIM50 254130
Orphanet52 ORPHA45448
ICD10 via Orphanet29 G71.0
MESH via Orphanet38 C537480
UMLS via Orphanet67 C1850808
MedGen35 C1850808
MeSH37 D049310

Summaries for Miyoshi Muscular Dystrophy 1

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OMIM:50 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, distal, with anterior tibial onset and muscular dystrophy, limb-girdle, type 2b, and has symptoms including grip strength decreased, grip strength decreased and weakness of lower limb. An important gene associated with Miyoshi Muscular Dystrophy 1 is DYSF (Dysferlin). Affiliated tissues include skeletal muscle, and related mouse phenotype muscle.

Genetics Home Reference:24 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.

NIH Rare Diseases:46 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

UniProtKB/Swiss-Prot:68 Miyoshi muscular dystrophy 1: A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood.

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 Suite gene sharing:

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, distal, with anterior tibial onset31.4DYSF, MMD
2muscular dystrophy, limb-girdle, type 2b31.4DYSF, MMD
3cataract29.0CAPN3, DYSF
4multiple myeloma11.3
5multiple mitochondrial dysfunctions syndrome11.3
6miyoshi muscular dystrophy 311.1
7multiminicore disease11.1
8medial medullary syndrome10.9
9muscular dystrophy, rigid spine, 110.9
10multiple mitochondrial dysfunctions syndrome 110.9
11methylmalonic aciduria and homocystinuria, cblc type10.8
12maple syrup urine disease, type ii10.8
13transcobalamin ii deficiency10.8
14histidinemia10.8
15female stress incontinence10.8
16osmotic diarrhea10.8
173-methylcrotonyl-coa carboxylase deficiency10.8
18phaeohyphomycosis10.8
19hemopneumothorax10.8
20skull base meningioma10.8
21intraocular retinoblastoma10.8
22sleep disorder10.8
23inherited metabolic disorder10.8
24amino acid metabolic disorder10.8
25histidine metabolism disease10.8
26myopathy10.8
27myeloma10.3
28dysferlinopathy10.2
29melanoma10.1
30minicore myopathy with external ophthalmoplegia10.1
31microphthalmia, isolated 610.0
32myocardial infarction9.9
33astigmatism9.9
34basal cell carcinoma9.9
35adenocarcinoma9.9
36aneurysm9.9
37sarcoma9.9
38mitral valve prolapse, myxomatous 29.9
39microcoria, congenital9.9
40megalocornea 1, x-linked9.9
41choroid disease9.9
42purpura9.9
43hyperlipidemia type 39.9
44acute myocardial infarction9.8
45intracranial aneurysm9.8
46otosclerosis9.8
47thyroiditis9.8
48kuru9.7
49trigeminal neuralgia9.7
50leukemia9.7

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 10)
id Description Frequency HPO Source Accession
1 distal muscle weakness HP:0002460
2 elevated serum creatine phosphokinase HP:0003236
3 difficulty climbing stairs HP:0003551
4 muscular dystrophy HP:0003560
5 distal amyotrophy HP:0003693
6 deposits immunoreactive to beta-amyloid protein HP:0003791
7 lower limb muscle weakness HP:0007340
8 decreased achilles reflex HP:0009072
9 muscle fibrillation HP:0010546
10 decreased/absent ankle reflexes HP:0200101

UMLS symptoms related to Miyoshi Muscular Dystrophy 1:


grip strength decreased, weakness of lower limb

Drugs & Therapeutics for Miyoshi Muscular Dystrophy 1

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Drugs for Miyoshi Muscular Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1DeflazacortPhase 2, Phase 31214484-47-0

Interventional clinical trials:

idNameStatusNCT IDPhase
1Deflazacort in DysferlinopathiesCompletedNCT00527228Phase 2, Phase 3
2rAAVrh74.MHCK7.DYSF.DV for Treatment of DysferlinopathiesRecruitingNCT02710500Phase 1
3Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334
4Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular DisordersRecruitingNCT01459302
5Clinical Outcome Study for DysferlinopathyActive, not recruitingNCT01676077

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 Muscular Dystrophy 125
2 Miyoshi Myopathy25
3 Miyoshi Distal Myopathy23

Anatomical Context for Miyoshi Muscular Dystrophy 1

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MalaCards organs/tissues related to Miyoshi Muscular Dystrophy 1:

34
Skeletal muscle

Animal Models for Miyoshi Muscular Dystrophy 1 or affiliated genes

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MGI Mouse Phenotypes related to Miyoshi Muscular Dystrophy 1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2CAPN3, CHKB, DYSF, MYOF

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:

68 (show all 32)
id Symbol AA change Variation ID SNP ID
1DYSFp.Pro791ArgVAR_012308rs121908956
2DYSFp.Ile1298ValVAR_012309rs121908954
3DYSFp.His1857ArgVAR_012310
4DYSFp.Arg2042CysVAR_012311rs121908955
5DYSFp.Ala170GluVAR_024853rs34999029
6DYSFp.Gly299GluVAR_024857
7DYSFp.Cys456TrpVAR_024858
8DYSFp.Arg555TrpVAR_024859rs377735262
9DYSFp.Arg959TrpVAR_024860rs202218890
10DYSFp.Arg1046HisVAR_024863rs28939700
11DYSFp.Glu1335LysVAR_024868rs758993965
12DYSFp.Arg1693GlnVAR_024870rs779987458
13DYSFp.Arg2000GlnVAR_024872rs115407852
14DYSFp.Val67AspVAR_057835rs121908957
15DYSFp.Gly299TrpVAR_057841rs121908963
16DYSFp.Glu389GlnVAR_057846
17DYSFp.Gly426ArgVAR_057848
18DYSFp.Gly426ValVAR_057849
19DYSFp.Gly519ArgVAR_057850rs121908962
20DYSFp.Gly618ArgVAR_057851rs201049092
21DYSFp.Trp999CysVAR_057857rs28937581
22DYSFp.Pro1029LeuVAR_057858
23DYSFp.Arg1041CysVAR_057859rs144598063
24DYSFp.Cys1361ArgVAR_057863rs776472879
25DYSFp.Thr1662ArgVAR_057868
26DYSFp.Gly1679GluVAR_057870
27DYSFp.Arg1693TrpVAR_057871
28DYSFp.Asp1837AsnVAR_057874rs398123794
29DYSFp.Gly1842AspVAR_057875
30DYSFp.Leu1922ProVAR_057876
31DYSFp.Cys1942GlyVAR_057878
32DYSFp.Pro2068LeuVAR_057881rs149732545

Clinvar genetic disease variations for Miyoshi Muscular Dystrophy 1:

5 (show all 19)
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.3230G> A (p.Trp1077Ter)single nucleotide variantPathogenicrs794727534GRCh37Chr 2, 71801383: 71801383
3DYSFNM_003494.3(DYSF): c.265C> T (p.Arg89Ter)single nucleotide variantPathogenicrs794727636GRCh37Chr 2, 71730372: 71730372
4DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionPathogenicrs863224867GRCh37Chr 2, 71817414: 71817415
5DYSFNM_003494.3(DYSF): c.2643+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs140108514GRCh37Chr 2, 71795213: 71795213
6DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionPathogenicrs863224867GRCh37Chr 2, 71817414: 71817415
7DYSFNM_003494.3(DYSF): c.2643+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs140108514GRCh37Chr 2, 71795213: 71795213
8DYSFNM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter)single nucleotide variantPathogenicrs121908953GRCh37Chr 2, 71780201: 71780201
9DYSFNM_001130978.1(DYSF): c.3892A> G (p.Ile1298Val)single nucleotide variantPathogenicrs121908954GRCh37Chr 2, 71829924: 71829924
10DYSFNM_001130978.1(DYSF): c.6187C> T (p.Arg2063Cys)single nucleotide variantPathogenicrs121908955GRCh37Chr 2, 71909727: 71909727
11DYSFNM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg)single nucleotide variantPathogenicrs121908956GRCh37Chr 2, 71791204: 71791204
12DYSFNM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp)indelPathogenicrs121908957GRCh37Chr 2, 71709064: 71709065
13DYSFNM_001130978.1(DYSF): c.2997G> T (p.Trp999Cys)single nucleotide variantPathogenicrs28937581GRCh37Chr 2, 71797430: 71797430
14DYSFNM_001130978.1(DYSF): c.3137G> A (p.Arg1046His)single nucleotide variantPathogenicrs121908958GRCh37Chr 2, 71797834: 71797834
15DYSFNM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)single nucleotide variantPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372
16DYSFNM_001130978.1(DYSF): c.1555G> A (p.Gly519Arg)single nucleotide variantPathogenicrs121908962GRCh37Chr 2, 71778203: 71778203
17DYSFNM_001130978.1(DYSF): c.895G> T (p.Gly299Trp)single nucleotide variantPathogenicrs121908963GRCh37Chr 2, 71744158: 71744158
18DYSFNM_003494.3(DYSF): c.2643+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs140108514GRCh37Chr 2, 71795213: 71795213
19DYSFNM_003494.3(DYSF): c.4756C> T (p.Arg1586Ter)single nucleotide variantPathogenicrs398123789GRCh37Chr 2, 71886125: 71886125

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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GO Terms for genes affiliated with Miyoshi Muscular Dystrophy 1

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Cellular components related to Miyoshi Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:00303159.6CAPN3, DYSF
2cytoplasmic vesicle membraneGO:00306599.5DYSF, MYOF
3cytoplasmic vesicleGO:00314109.5DYSF, MYOF

Biological processes related to Miyoshi Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1plasma membrane repairGO:00017789.8DYSF, MYOF
2muscle contractionGO:00069369.5DYSF, MYOF

Molecular functions related to Miyoshi Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:00055439.5DYSF, MYOF

Sources for Miyoshi Muscular Dystrophy 1

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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