MCID: MYS033
MIFTS: 44

Miyoshi Muscular Dystrophy 1 malady

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

Aliases & Classifications for Miyoshi Muscular Dystrophy 1

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Sources:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 23Genetics Home Reference, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Miyoshi Muscular Dystrophy 1:

Name: Miyoshi Muscular Dystrophy 1 49 11 67
Miyoshi Myopathy 45 22 23 47 51 24 65 67
Miyoshi Distal Myopathy 45 22 23
Muscular Dystrophy, Distal, Late Onset, Autosomal Recessive 45
Muscular Dystrophy Distal Late-Onset Autosomal Recessive 67
 
Distal Muscular Dystrophy, Miyoshi Type 23
Miyoshi Muscular Dystrophy 23
Mmd1 67
Mmd 23
Mm 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
miyoshi myopathy:
Prevalence: 1-9/1000000 (Japan); Age of onset: Adult


External Ids:

OMIM49 254130
Orphanet51 45448
ICD10 via Orphanet28 G71.0
MESH via Orphanet37 C537480
UMLS via Orphanet66 C1850808
MedGen34 C1850808
MeSH36 D049310

Summaries for Miyoshi Muscular Dystrophy 1

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OMIM:49 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 muscular dystrophy and myopathy, 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, and related mouse phenotype muscle.

NIH Rare Diseases:45 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.

UniProtKB/Swiss-Prot:67 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 442)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy30.8CAPN3, DYSF
2myopathy10.9
3multiple myeloma10.8
4myeloma10.8
5miyoshi muscular dystrophy 310.8
6plasma cell neoplasm10.7
7hypersensitivity reaction type iv disease10.7
8vascular cancer10.7
9vascular hemostatic disease10.7
10factor v leiden thrombophilia10.7
11limb-girdle muscular dystrophy10.7
12peripheral vascular disease10.6
13miyoshi muscular dystrophy 210.6
14central nervous system hematologic cancer10.5
15peripheral nervous system neoplasm10.5
16autonomic nervous system disease10.5
17autonomic nervous system neoplasm10.5
18central nervous system cancer10.5
19refractory plasma cell neoplasm10.5
20refractory hematologic cancer10.5
21multiminicore disease10.5
22glucocorticoid therapy, response to10.5
23nervous system cancer10.5
24hematologic cancer10.4
25distal anoctaminopathy10.4
26melanoma10.4
27gamma chain deficiency10.4
28vascular disease10.4
29dysferlinopathy10.3
30multiple mitochondrial dysfunctions syndrome10.3
31calpainopathy10.3
32myocardial infarction10.3
33farber lipogranulomatosis10.3
34burkitt lymphoma10.3
35mucolipidosis ii alpha/beta10.3
36leukemia10.3
37lymphosarcoma10.3
38adult lymphoma10.3
39bone cancer10.3
40lymphatic system cancer10.3
41lymphatic system disease10.3
42skin tag10.3
43lymphatic neoplasm10.3
44distal muscular dystrophy10.3
45lymphoma, non-hodgkin10.3
46diabetes mellitus, insulin-dependent10.3
47infertility10.3
48diabetes mellitus, noninsulin-dependent10.2
49aplastic anemia10.2
50diabetes mellitus, ketosis-prone10.2

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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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
2Evaluation of Limb-Girdle Muscular DystrophyCompletedNCT00893334
3Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular DisordersRecruitingNCT01459302
4Clinical 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 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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MGI Mouse Phenotypes related to Miyoshi Muscular Dystrophy 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5CAPN3, 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:

67 (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:

5 (show all 16)
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)deletionLikely pathogenic, PathogenicGRCh37Chr 2, 71817414: 71817415
5DYSFNM_003494.3(DYSF): c.3516_3517delTT (p.Ser1173Terfs)deletionLikely pathogenic, PathogenicGRCh37Chr 2, 71817414: 71817415
6DYSFNM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter)single nucleotide variantPathogenicrs121908953GRCh37Chr 2, 71780201: 71780201
7DYSFNM_001130978.1(DYSF): c.3892A> G (p.Ile1298Val)single nucleotide variantPathogenicrs121908954GRCh37Chr 2, 71829924: 71829924
8DYSFNM_001130978.1(DYSF): c.6187C> T (p.Arg2063Cys)single nucleotide variantPathogenicrs121908955GRCh37Chr 2, 71909727: 71909727
9DYSFNM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg)single nucleotide variantPathogenicrs121908956GRCh37Chr 2, 71791204: 71791204
10DYSFNM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp)indelPathogenicrs121908957GRCh37Chr 2, 71709064: 71709065
11DYSFNM_001130978.1(DYSF): c.2997G> T (p.Trp999Cys)single nucleotide variantPathogenicrs28937581GRCh37Chr 2, 71797430: 71797430
12DYSFNM_001130978.1(DYSF): c.3137G> A (p.Arg1046His)single nucleotide variantPathogenicrs121908958GRCh37Chr 2, 71797834: 71797834
13DYSFNM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter)single nucleotide variantPathogenicrs121908959GRCh37Chr 2, 71901372: 71901372
14DYSFNM_001130978.1(DYSF): c.1555G> A (p.Gly519Arg)single nucleotide variantPathogenicrs121908962GRCh37Chr 2, 71778203: 71778203
15DYSFNM_001130978.1(DYSF): c.895G> T (p.Gly299Trp)single nucleotide variantPathogenicrs121908963GRCh37Chr 2, 71744158: 71744158
16DYSFNM_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
1cytoplasmic vesicle membraneGO:00306599.5DYSF, MYOF
2T-tubuleGO:00303159.3CAPN3, DYSF
3cytoplasmic vesicleGO:00314109.2DYSF, 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 organ developmentGO:00075179.1CAPN3, CHKB

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet