MMD1
MCID: MYS033
MIFTS: 42

Miyoshi Muscular Dystrophy 1 (MMD1) malady

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

Aliases & Classifications for Miyoshi Muscular Dystrophy 1

Aliases & Descriptions for Miyoshi Muscular Dystrophy 1:

Name: Miyoshi Muscular Dystrophy 1 54 66 29 13
Miyoshi Myopathy 50 24 25 56 66 29 52 69
Miyoshi Distal Myopathy 50 24 25
Muscular Dystrophy, Distal, Late Onset, Autosomal Recessive 50
Muscular Dystrophy Distal Late-Onset Autosomal Recessive 66
Distal Muscular Dystrophy, Miyoshi Type 25
Miyoshi Muscular Dystrophy 25
Mmd1 66
Mmd 25
Mm 50

Characteristics:

Orphanet epidemiological data:

56
miyoshi myopathy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Adult;

HPO:

32
miyoshi muscular dystrophy 1:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course adult onset


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 254130
Orphanet 56 ORPHA45448
UMLS via Orphanet 70 C1850808
ICD10 via Orphanet 34 G71.0
MESH via Orphanet 43 C537480
MedGen 40 C1850808
MeSH 42 D049310

Summaries for Miyoshi Muscular Dystrophy 1

OMIM : 54 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 miyoshi muscular dystrophy 3 and miyoshi muscular dystrophy 2, and has symptoms including muscle fibrillation, lower limb muscle weakness and elevated serum creatine phosphokinase. An important gene associated with Miyoshi Muscular Dystrophy 1 is DYSF (Dysferlin). The drugs Deflazacort and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are Decreased viability and muscle

Genetics Home Reference : 25 Miyoshi myopathy is a muscle disorder that begins with weakness in the muscles that are located 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 : 50 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 : 66 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

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 166)
id Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 3 12.4
2 miyoshi muscular dystrophy 2 12.1
3 multiple mitochondrial dysfunctions syndrome 11.5
4 multiple myeloma 11.2
5 dysferlinopathy 11.1
6 distal muscular dystrophy 11.1
7 minicore myopathy with external ophthalmoplegia 11.0
8 muscular dystrophy, rigid spine, 1 10.9
9 multiminicore disease 10.9
10 microphthalmia, isolated 6 10.9
11 inherited metabolic disorder 10.8
12 female stress incontinence 10.8
13 transcobalamin ii deficiency 10.8
14 methylmalonic aciduria and homocystinuria, cblc type 10.8
15 maple syrup urine disease, type ii 10.8
16 skull base meningioma 10.8
17 childhood kidney cell carcinoma 10.8
18 intraocular retinoblastoma 10.8
19 histidinemia 10.8
20 hemopneumothorax 10.8
21 osmotic diarrhea 10.8
22 amino acid metabolic disorder 10.8
23 sleep disorder 10.8
24 histidine metabolism disease 10.8
25 medial medullary syndrome 10.8
26 multiple mitochondrial dysfunctions syndrome 1 10.8
27 purpura 10.8
28 choroid disease 10.8
29 mitral valve prolapse, myxomatous 2 10.8
30 megalocornea 1, x-linked 10.8
31 microcoria, congenital 10.8
32 tyrosinemia, type ii 10.7
33 miliary tuberculosis 10.6
34 cataract 9, multiple types 10.6
35 clear cell acanthoma 10.6
36 cataract, juvenile, with microcornea and glucosuria 10.6
37 cataract 40, x-linked 10.6
38 lichen nitidus 10.6
39 syringoma 10.6
40 glaucoma 1, open angle, p 10.6
41 cataract 1, multiple types 10.6
42 isolated congenital megalocornea 10.6
43 chiari malformation type i 10.6
44 cataract 21, multiple types 10.6
45 cystic kidney disease 10.6
46 myxozoa 10.6
47 microcornea, myopic chorioretinal atrophy, and telecanthus 10.6
48 megalocornea 10.6
49 tungiasis 10.6
50 nodular regenerative hyperplasia 10.6

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



Diseases related to Miyoshi Muscular Dystrophy 1

Symptoms & Phenotypes for Miyoshi Muscular Dystrophy 1

Symptoms by clinical synopsis from OMIM:

254130

Clinical features from OMIM:

254130

Human phenotypes related to Miyoshi Muscular Dystrophy 1:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 muscle fibrillation 32 HP:0010546
2 lower limb muscle weakness 32 HP:0007340
3 elevated serum creatine phosphokinase 32 HP:0003236
4 muscular dystrophy 32 HP:0003560
5 distal muscle weakness 32 HP:0002460
6 distal amyotrophy 32 HP:0003693
7 difficulty climbing stairs 32 HP:0003551
8 deposits immunoreactive to beta-amyloid protein 32 HP:0003791
9 decreased achilles reflex 32 HP:0009072
10 decreased/absent ankle reflexes 32 HP:0200101

UMLS symptoms related to Miyoshi Muscular Dystrophy 1:


decreased grip strength, lower limb muscle weakness

GenomeRNAi Phenotypes related to Miyoshi Muscular Dystrophy 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.17 CHKB
2 Decreased viability GR00221-A-2 9.17 CHKB
3 Decreased viability GR00221-A-3 9.17 CHKB
4 Decreased viability GR00221-A-4 9.17 CHKB DYSF
5 Decreased viability GR00301-A 9.17 CHKB DYSF

MGI Mouse Phenotypes related to Miyoshi Muscular Dystrophy 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 CAPN3 CHKB DYSF MYOF

Drugs & Therapeutics for Miyoshi Muscular Dystrophy 1

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Deflazacort Approved Phase 2, Phase 3 14484-47-0
2 Anti-Inflammatory Agents Phase 2, Phase 3
3 Immunosuppressive Agents Phase 2, Phase 3
4 Vaccines Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3
2 rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies Recruiting NCT02710500 Phase 1
3 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
4 Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders Recruiting NCT01459302
5 Clinical Outcome Study for Dysferlinopathy Active, not recruiting NCT01676077

Search NIH Clinical Center for Miyoshi Muscular Dystrophy 1

Genetic Tests for Miyoshi Muscular Dystrophy 1

Genetic tests related to Miyoshi Muscular Dystrophy 1:

id Genetic test Affiliating Genes
1 Miyoshi Muscular Dystrophy 1 29
2 Miyoshi Myopathy 29
3 Miyoshi Distal Myopathy 24

Anatomical Context for Miyoshi Muscular Dystrophy 1

MalaCards organs/tissues related to Miyoshi Muscular Dystrophy 1:

39
Skeletal Muscle

Publications for Miyoshi Muscular Dystrophy 1

Variations for Miyoshi Muscular Dystrophy 1

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

66 (show all 32)
id Symbol AA change Variation ID SNP ID
1 DYSF p.Pro791Arg VAR_012308 rs121908956
2 DYSF p.Ile1298Val VAR_012309 rs121908954
3 DYSF p.His1857Arg VAR_012310 rs199601326
4 DYSF p.Arg2042Cys VAR_012311 rs121908955
5 DYSF p.Ala170Glu VAR_024853 rs34999029
6 DYSF p.Gly299Glu VAR_024857
7 DYSF p.Cys456Trp VAR_024858
8 DYSF p.Arg555Trp VAR_024859 rs377735262
9 DYSF p.Arg959Trp VAR_024860 rs202218890
10 DYSF p.Arg1046His VAR_024863 rs28939700
11 DYSF p.Glu1335Lys VAR_024868 rs758993965
12 DYSF p.Arg1693Gln VAR_024870 rs779987458
13 DYSF p.Arg2000Gln VAR_024872 rs115407852
14 DYSF p.Val67Asp VAR_057835 rs121908957
15 DYSF p.Gly299Trp VAR_057841 rs121908963
16 DYSF p.Glu389Gln VAR_057846
17 DYSF p.Gly426Arg VAR_057848
18 DYSF p.Gly426Val VAR_057849
19 DYSF p.Gly519Arg VAR_057850 rs121908962
20 DYSF p.Gly618Arg VAR_057851 rs201049092
21 DYSF p.Trp999Cys VAR_057857 rs28937581
22 DYSF p.Pro1029Leu VAR_057858
23 DYSF p.Arg1041Cys VAR_057859 rs144598063
24 DYSF p.Cys1361Arg VAR_057863 rs776472879
25 DYSF p.Thr1662Arg VAR_057868
26 DYSF p.Gly1679Glu VAR_057870
27 DYSF p.Arg1693Trp VAR_057871 rs863225021
28 DYSF p.Asp1837Asn VAR_057874 rs398123794
29 DYSF p.Gly1842Asp VAR_057875
30 DYSF p.Leu1922Pro VAR_057876
31 DYSF p.Cys1942Gly VAR_057878
32 DYSF p.Pro2068Leu VAR_057881 rs149732545

ClinVar genetic disease variations for Miyoshi Muscular Dystrophy 1:

6 (show top 50) (show all 89)
id Gene Variation Type Significance SNP ID Assembly Location
1 DYSF NM_001130978.1(DYSF): c.1813C> T (p.Gln605Ter) single nucleotide variant Pathogenic rs121908953 GRCh37 Chromosome 2, 71780201: 71780201
2 DYSF NM_003494.3(DYSF): c.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic rs121908955 GRCh37 Chromosome 2, 71909727: 71909727
3 DYSF NM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs) indel Pathogenic rs786200896 GRCh37 Chromosome 2, 71887767: 71887771
4 DYSF NM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg) single nucleotide variant Pathogenic rs121908956 GRCh37 Chromosome 2, 71791204: 71791204
5 DYSF NM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp) indel Pathogenic rs121908957 GRCh37 Chromosome 2, 71709064: 71709065
6 DYSF NM_001130978.1(DYSF): c.2997G> T (p.Trp999Cys) single nucleotide variant Pathogenic rs28937581 GRCh37 Chromosome 2, 71797430: 71797430
7 DYSF NM_001130978.1(DYSF): c.3137G> A (p.Arg1046His) single nucleotide variant Pathogenic rs121908958 GRCh37 Chromosome 2, 71797834: 71797834
8 DYSF NM_001130978.1(DYSF): c.5776C> T (p.Arg1926Ter) single nucleotide variant Pathogenic rs121908959 GRCh37 Chromosome 2, 71901372: 71901372
9 DYSF NM_001130978.1(DYSF): c.895G> T (p.Gly299Trp) single nucleotide variant Pathogenic rs121908963 GRCh37 Chromosome 2, 71744158: 71744158
10 DYSF NM_003494.3(DYSF): c.2779delG (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh37 Chromosome 2, 71795437: 71795437
11 DYSF NM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys) single nucleotide variant Pathogenic rs786205084 GRCh38 Chromosome 2, 71668842: 71668842
12 DYSF NM_003494.3(DYSF): c.1053+1G> A single nucleotide variant Pathogenic rs398123763 GRCh37 Chromosome 2, 71748035: 71748035
13 DYSF NM_003494.3(DYSF): c.107_108delAA (p.Lys36Serfs) deletion Pathogenic rs398123764 GRCh37 Chromosome 2, 71708031: 71708032
14 DYSF NM_003494.3(DYSF): c.1284+2T> C single nucleotide variant Pathogenic rs398123765 GRCh37 Chromosome 2, 71755533: 71755533
15 DYSF NM_003494.3(DYSF): c.1368C> A (p.Cys456Ter) single nucleotide variant Pathogenic rs202044973 GRCh37 Chromosome 2, 71762412: 71762412
16 DYSF NM_003494.3(DYSF): c.1392dupA (p.Asp465Argfs) duplication Pathogenic rs398123767 GRCh37 Chromosome 2, 71762436: 71762436
17 DYSF NM_003494.3(DYSF): c.1398-1G> A single nucleotide variant Pathogenic rs398123768 GRCh37 Chromosome 2, 71766286: 71766286
18 DYSF NM_003494.3(DYSF): c.1398-2A> G single nucleotide variant Pathogenic rs398123769 GRCh37 Chromosome 2, 71766285: 71766285
19 DYSF NM_003494.3(DYSF): c.1481-1G> A single nucleotide variant Pathogenic rs398123770 GRCh37 Chromosome 2, 71776479: 71776479
20 DYSF NM_003494.3(DYSF): c.1638+2T> A single nucleotide variant Pathogenic rs398123771 GRCh37 Chromosome 2, 71778288: 71778288
21 DYSF NM_003494.3(DYSF): c.1642delG (p.Glu548Lysfs) deletion Pathogenic rs398123772 GRCh37 Chromosome 2, 71778740: 71778740
22 DYSF NM_003494.3(DYSF): c.1663C> T (p.Arg555Trp) single nucleotide variant Pathogenic rs377735262 GRCh37 Chromosome 2, 71778761: 71778761
23 DYSF NM_003494.3(DYSF): c.2311C> T (p.Gln771Ter) single nucleotide variant Pathogenic rs398123773 GRCh37 Chromosome 2, 71789030: 71789030
24 DYSF NM_003494.3(DYSF): c.2643+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140108514 GRCh37 Chromosome 2, 71795213: 71795213
25 DYSF NM_003494.3(DYSF): c.2869C> T (p.Gln957Ter) single nucleotide variant Pathogenic rs398123776 GRCh37 Chromosome 2, 71797008: 71797008
26 DYSF NM_003494.3(DYSF): c.2870_2874delAGACC (p.Gln957Profs) deletion Pathogenic rs398123777 GRCh37 Chromosome 2, 71797009: 71797013
27 DYSF NM_003494.3(DYSF): c.3327_3328delGT (p.Phe1110Cysfs) deletion Pathogenic rs398123780 GRCh37 Chromosome 2, 71801480: 71801481
28 DYSF NM_003494.3(DYSF): c.3444_3445delTGinsAA (p.Tyr1148Ter) indel Pathogenic rs398123781 GRCh37 Chromosome 2, 71817342: 71817343
29 DYSF NM_003494.3(DYSF): c.353delT (p.Val118Alafs) deletion Pathogenic rs398123782 GRCh37 Chromosome 2, 71738947: 71738947
30 DYSF NM_003494.3(DYSF): c.3641delC (p.Pro1214Argfs) deletion Pathogenic rs398123783 GRCh37 Chromosome 2, 71825814: 71825814
31 DYSF NM_003494.3(DYSF): c.393_394delCC (p.Leu132Valfs) deletion Pathogenic rs398123784 GRCh37 Chromosome 2, 71738987: 71738988
32 DYSF NM_003494.3(DYSF): c.4200dupC (p.Ile1401Hisfs) duplication Pathogenic rs398123786 GRCh37 Chromosome 2, 71839803: 71839803
33 DYSF NM_003494.3(DYSF): c.4253G> A (p.Gly1418Asp) single nucleotide variant Pathogenic/Likely pathogenic rs398123787 GRCh37 Chromosome 2, 71839856: 71839856
34 DYSF NM_003494.3(DYSF): c.4756C> T (p.Arg1586Ter) single nucleotide variant Pathogenic rs398123789 GRCh37 Chromosome 2, 71886125: 71886125
35 DYSF NM_003494.3(DYSF): c.4894G> T (p.Glu1632Ter) single nucleotide variant Pathogenic rs398123790 GRCh37 Chromosome 2, 71891405: 71891405
36 DYSF NM_003494.3(DYSF): c.5341-2A> C single nucleotide variant Pathogenic rs398123792 GRCh37 Chromosome 2, 71895882: 71895882
37 DYSF NM_003494.3(DYSF): c.5429+1G> T single nucleotide variant Pathogenic rs398123793 GRCh37 Chromosome 2, 71895973: 71895973
38 DYSF NM_003494.3(DYSF): c.5497G> T (p.Glu1833Ter) single nucleotide variant Pathogenic rs201592500 GRCh37 Chromosome 2, 71896309: 71896309
39 DYSF NM_003494.3(DYSF): c.5509G> A (p.Asp1837Asn) single nucleotide variant Pathogenic rs398123794 GRCh37 Chromosome 2, 71896321: 71896321
40 DYSF NM_003494.3(DYSF): c.5644C> T (p.Gln1882Ter) single nucleotide variant Pathogenic rs398123795 GRCh37 Chromosome 2, 71896853: 71896853
41 DYSF NM_003494.3(DYSF): c.5698_5699delAG (p.Ser1900Glnfs) deletion Pathogenic rs398123796 GRCh37 Chromosome 2, 71901357: 71901358
42 DYSF NM_003494.3(DYSF): c.5836_5839delCAGC (p.Gln1946Trpfs) deletion Pathogenic rs398123797 GRCh37 Chromosome 2, 71906255: 71906258
43 DYSF NM_003494.3(DYSF): c.5946+1G> A single nucleotide variant Pathogenic rs398123798 GRCh37 Chromosome 2, 71906366: 71906366
44 DYSF NM_003494.3(DYSF): c.5979dupA (p.Glu1994Argfs) duplication Pathogenic rs398123799 GRCh37 Chromosome 2, 71908163: 71908163
45 DYSF NM_003494.3(DYSF): c.610C> T (p.Arg204Ter) single nucleotide variant Pathogenic rs373585652 GRCh37 Chromosome 2, 71740998: 71740998
46 DYSF NM_003494.3(DYSF): c.663+1G> C single nucleotide variant Pathogenic rs398123800 GRCh37 Chromosome 2, 71741052: 71741052
47 DYSF NM_003494.3(DYSF): c.937+1G> A single nucleotide variant Pathogenic rs201869739 GRCh37 Chromosome 2, 71747339: 71747339
48 DYSF NM_003494.3(DYSF): c.5266C> T (p.Gln1756Ter) single nucleotide variant Pathogenic rs727503912 GRCh37 Chromosome 2, 71894571: 71894571
49 DYSF NM_003494.3(DYSF): c.3832C> T (p.Gln1278Ter) single nucleotide variant Pathogenic rs727503911 GRCh38 Chromosome 2, 71600831: 71600831
50 DYSF NM_003494.3(DYSF): c.5525+1G> A single nucleotide variant Pathogenic rs727503915 GRCh37 Chromosome 2, 71896338: 71896338

Expression for Miyoshi Muscular Dystrophy 1

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

Pathways for Miyoshi Muscular Dystrophy 1

GO Terms for Miyoshi Muscular Dystrophy 1

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

id Name GO ID Score Top Affiliating Genes
1 nuclear envelope GO:0005635 9.16 DCTN1 MYOF
2 cytoplasmic vesicle membrane GO:0030659 8.96 DYSF MYOF
3 T-tubule GO:0030315 8.62 CAPN3 DYSF

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

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 8.96 DYSF MYOF
2 plasma membrane repair GO:0001778 8.62 DYSF MYOF

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

id Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 8.62 DYSF MYOF

Sources for Miyoshi Muscular Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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