MMD1
MCID: MYS033
MIFTS: 49

Miyoshi Muscular Dystrophy 1 (MMD1)

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

Aliases & Classifications for Miyoshi Muscular Dystrophy 1

MalaCards integrated aliases for Miyoshi Muscular Dystrophy 1:

Name: Miyoshi Muscular Dystrophy 1 57 12 75 29 13 6 15
Miyoshi Myopathy 57 53 25 59 75 37 29 55 6 73
Mmd1 57 12 75
Miyoshi Distal Myopathy 53 25
Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive 57
Muscular Dystrophy, Distal, Late Onset, Autosomal Recessive 53
Muscular Dystrophy Distal Late-Onset Autosomal Recessive 75
Distal Muscular Dystrophy, Miyoshi Type 25
Miyoshi Muscular Dystrophy 25
Miyoshi Myopathy 1 12
Myopathy, Miyoshi 40
Mmd 25
Mm 53

Characteristics:

Orphanet epidemiological data:

59
miyoshi myopathy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
onset age 15-25 years
allelic disorder to limb-girdle muscular dystrophy type 2b (lgmd2b, )


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 254130
Disease Ontology 12 DOID:0070199
Orphanet 59 ORPHA45448
UMLS via Orphanet 74 C1850808
ICD10 via Orphanet 34 G71.0
MESH via Orphanet 45 C537480
MedGen 42 C1850808
MeSH 44 D049310
KEGG 37 H01965
UMLS 73 C1850808

Summaries for Miyoshi Muscular Dystrophy 1

NIH Rare Diseases : 53 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. Blood exams show an elevation of the creatine kinase (CK) often 10-100 times above the normal values. It is caused by variations (mutations) in the DYSF gene. Inheritance is autosomal recessive. Management may include physical therapy, use of mechanical aids, surgical intervention for orthopedic complications, respiratory aids, and social and emotional support. Miyoshi myopathy is part of the group of diseases known as  "Dysferlinopathies", which are caused by DYSF pathogenic variants.

MalaCards based summary : Miyoshi Muscular Dystrophy 1, also known as miyoshi myopathy, is related to polymyositis and pancreatic ductal adenocarcinoma, and has symptoms including decreased grip strength An important gene associated with Miyoshi Muscular Dystrophy 1 is DYSF (Dysferlin), and among its related pathways/superpathways is Cell Differentiation - Index. The drugs Deflazacort and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, lung and kidney, and related phenotypes are elevated serum creatine phosphokinase and toe walking

Disease Ontology : 12 A Miyoshi muscular dystrophy that has material basis in mutation in the DYSF gene on chromosome 2p13.

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.

OMIM : 57 Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness affecting the upper and lower limbs but sparing the intrinsic hand muscles. Muscle weakness and atrophy particularly affects the gastrocnemius and soleus muscles, and can later spread to involve the thigh and gluteal muscles. Patients showed impaired tiptoe standing, difficulty in climbing stairs, and difficulty walking, but usually remain ambulatory. Serum creatine kinase is increased and muscle biopsies show myopathic and dystrophic changes with necrosis (summary by Miyoshi et al., 1986). (254130)

UniProtKB/Swiss-Prot : 75 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 family:

Miyoshi Muscular Dystrophy 1 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 277)
# Related Disease Score Top Affiliating Genes
1 polymyositis 29.7 MIR382 MIR146B MIR132
2 pancreatic ductal adenocarcinoma 29.6 MIR221 MIR148A
3 thyroid cancer, nonmedullary, 1 29.4 MIR221 MIR146B
4 squamous cell carcinoma, head and neck 28.9 MIR221 MIR148A MIR146B
5 ovarian cancer 28.7 MIR381 MIR221 MIR146B
6 multiple mitochondrial dysfunctions syndrome 11.8
7 medial medullary syndrome 11.6
8 myeloma, multiple 11.5
9 miyoshi muscular dystrophy 3 11.5
10 miyoshi muscular dystrophy 2 11.4
11 miyoshi muscular dystrophy 11.4
12 minicore myopathy with external ophthalmoplegia 11.3
13 dysferlinopathy 11.2
14 rigid spine muscular dystrophy 1 11.2
15 multiple mitochondrial dysfunctions syndrome 1 11.2
16 multiminicore disease 11.2
17 mitral valve prolapse 1 11.1
18 mesomelia-synostoses syndrome 11.1
19 microphthalmia, isolated 6 11.1
20 microcoria, congenital 11.0
21 mitral valve prolapse 2 11.0
22 sessile serrated polyposis cancer syndrome 11.0
23 choroid disease 11.0
24 spinal cord disease 11.0
25 purpura 11.0
26 x-linked lissencephaly with abnormal genitalia 11.0
27 apnea, obstructive sleep 10.9
28 histidinemia 10.9
29 moyamoya disease 1 10.9
30 holocarboxylase synthetase deficiency 10.9
31 transcobalamin ii deficiency 10.9
32 methylmalonic aciduria and homocystinuria, cblc type 10.9
33 noonan syndrome 10 10.9
34 female stress incontinence 10.9
35 mixed sleep apnea 10.9
36 phaeohyphomycosis 10.9
37 hemopneumothorax 10.9
38 childhood kidney cell carcinoma 10.9
39 intraocular retinoblastoma 10.9
40 sleep disorder 10.9
41 amino acid metabolic disorder 10.9
42 histidine metabolism disease 10.9
43 myopathy 10.9
44 cataract 1, multiple types 10.8
45 chiari malformation type i 10.8
46 epithelial recurrent erosion dystrophy 10.8
47 papillomatosis, confluent and reticulated 10.8
48 palmoplantar keratoderma, punctate type ii 10.8
49 glaucoma 1, open angle, p 10.8
50 hyperparathyroidism, neonatal severe 10.8

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 via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
difficulty climbing stairs
decreased or absent ankle reflexes
muscle biopsy shows dystrophic changes
amyloid deposition in muscle fibers occurs rarely
difficulty in toe walking
more
Laboratory Abnormalities:
increased creatine kinase


Clinical features from OMIM:

254130

Human phenotypes related to Miyoshi Muscular Dystrophy 1:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 32 HP:0003236
2 toe walking 32 HP:0040083
3 muscular dystrophy 32 HP:0003560
4 lower limb muscle weakness 32 HP:0007340
5 muscle fibrillation 32 HP:0010546
6 difficulty climbing stairs 32 HP:0003551
7 distal muscle weakness 32 HP:0002460
8 deposits immunoreactive to beta-amyloid protein 32 occasional (7.5%) HP:0003791
9 distal amyotrophy 32 HP:0003693
10 decreased/absent ankle reflexes 32 HP:0200101
11 decreased achilles reflex 32 HP:0009072

UMLS symptoms related to Miyoshi Muscular Dystrophy 1:


decreased grip strength

Drugs & Therapeutics for Miyoshi Muscular Dystrophy 1

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


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
2 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
3 Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders Recruiting NCT01459302
4 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:

# Genetic test Affiliating Genes
1 Miyoshi Muscular Dystrophy 1 29 DYSF
2 Miyoshi Myopathy 29

Anatomical Context for Miyoshi Muscular Dystrophy 1

MalaCards organs/tissues related to Miyoshi Muscular Dystrophy 1:

41
Skeletal Muscle, Lung, Kidney, Heart, Tongue, Spinal Cord, Thyroid

Publications for Miyoshi Muscular Dystrophy 1

Articles related to Miyoshi Muscular Dystrophy 1:

(show all 40)
# Title Authors Year
1
A Case of Obsessive-Compulsive Disorder Comorbid with Miyoshi Myopathy. ( 29403136 )
2018
2
Novel, de novo dysferlin gene mutations in a patient with Miyoshi myopathy. ( 29138090 )
2018
3
Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy. ( 29209666 )
2017
4
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? ( 28053302 )
2017
5
Discordant manifestation in brothers with Miyoshi myopathy. ( 28131235 )
2017
6
Calf heads on a trophy sign: Miyoshi myopathy. ( 26167036 )
2015
7
Achilles tendon lengthening for equinus foot with Miyoshi myopathy: a case report. ( 24618243 )
2014
8
Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected]. ( 23519732 )
2013
9
Correction: Efficient and Reproducible Myogenic Differentiation from Human iPS Cells: Prospects for Modeling Miyoshi Myopathy In Vitro. ( 24376487 )
2013
10
Efficient and reproducible myogenic differentiation from human iPS cells: prospects for modeling Miyoshi Myopathy in vitro. ( 23626698 )
2013
11
Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report. ( 23050857 )
2012
12
Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance. ( 20497525 )
2010
13
A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene. ( 17868276 )
2007
14
[Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases]. ( 17785089 )
2007
15
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. ( 17132147 )
2007
16
Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy. ( 16023782 )
2006
17
Calf-head sign in Miyoshi myopathy. ( 17030657 )
2006
18
Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. ( 16891820 )
2006
19
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. ( 16010686 )
2005
20
[Dysferlin deficiency: the cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree]. ( 15079794 )
2004
21
Miyoshi myopathy--an unusual cause of calf pain and tightness. ( 14712166 )
2004
22
Dysferlin mutation analysis in a group of Italian patients with limb- girdle muscular dystrophy and Miyoshi myopathy. ( 15469449 )
2004
23
Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy. ( 15515206 )
2004
24
Novel dysferlin mutations and characteristic muscle atrophy in late- onset Miyoshi myopathy. ( 15116377 )
2004
25
Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. ( 12796534 )
2003
26
A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. ( 11782994 )
2002
27
Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma. ( 12410383 )
2002
28
Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene. ( 11231027 )
2001
29
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. ( 11468312 )
2001
30
A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy. ( 11257469 )
2001
31
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). ( 11053681 )
2000
32
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. ( 10496277 )
1999
33
Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. ( 10545047 )
1999
34
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). ( 10196377 )
1999
35
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. ( 9731526 )
1998
36
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. ( 9673986 )
1998
37
Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes. ( 10737122 )
1998
38
Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. ( 9570945 )
1998
39
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. ( 8808603 )
1996
40
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. ( 7723968 )
1995

Variations for Miyoshi Muscular Dystrophy 1

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

75 (show all 32)
# 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 rs121908958
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 rs886042093
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 600)
# 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_001130978.1(DYSF): c.1813C> T (p.Gln605Ter) single nucleotide variant Pathogenic rs121908953 GRCh38 Chromosome 2, 71553071: 71553071
3 DYSF NM_003494.3(DYSF): c.3892A> G (p.Ile1298Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121908954 GRCh37 Chromosome 2, 71829924: 71829924
4 DYSF NM_003494.3(DYSF): c.3892A> G (p.Ile1298Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121908954 GRCh38 Chromosome 2, 71602794: 71602794
5 DYSF NM_003494.3(DYSF): c.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908955 GRCh37 Chromosome 2, 71909727: 71909727
6 DYSF NM_003494.3(DYSF): c.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908955 GRCh38 Chromosome 2, 71682597: 71682597
7 DYSF NM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs) indel Pathogenic rs786200896 GRCh37 Chromosome 2, 71887767: 71887771
8 DYSF NM_003494.3(DYSF): c.4872_4876delGCCCGinsCCCC (p.Glu1624Aspfs) indel Pathogenic rs786200896 GRCh38 Chromosome 2, 71660637: 71660641
9 DYSF NM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg) single nucleotide variant Pathogenic rs121908956 GRCh37 Chromosome 2, 71791204: 71791204
10 DYSF NM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg) single nucleotide variant Pathogenic rs121908956 GRCh38 Chromosome 2, 71564074: 71564074
11 DYSF NM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp) indel Pathogenic rs121908957 GRCh37 Chromosome 2, 71709064: 71709065
12 DYSF NM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp) indel Pathogenic rs121908957 GRCh38 Chromosome 2, 71481934: 71481935
13 DYSF NM_003494.3(DYSF): c.2997G> T (p.Trp999Cys) single nucleotide variant Pathogenic rs28937581 GRCh37 Chromosome 2, 71797430: 71797430
14 DYSF NM_003494.3(DYSF): c.2997G> T (p.Trp999Cys) single nucleotide variant Pathogenic rs28937581 GRCh38 Chromosome 2, 71570300: 71570300
15 DYSF NM_003494.3(DYSF): c.3137G> A (p.Arg1046His) single nucleotide variant Pathogenic/Likely pathogenic rs121908958 GRCh37 Chromosome 2, 71797834: 71797834
16 DYSF NM_003494.3(DYSF): c.3137G> A (p.Arg1046His) single nucleotide variant Pathogenic/Likely pathogenic rs121908958 GRCh38 Chromosome 2, 71570704: 71570704
17 DYSF NM_003494.3(DYSF): c.5713C> T (p.Arg1905Ter) single nucleotide variant Pathogenic rs121908959 GRCh37 Chromosome 2, 71901372: 71901372
18 DYSF NM_003494.3(DYSF): c.5713C> T (p.Arg1905Ter) single nucleotide variant Pathogenic rs121908959 GRCh38 Chromosome 2, 71674242: 71674242
19 DYSF NM_003494.3(DYSF): c.1555G> A (p.Gly519Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908962 GRCh37 Chromosome 2, 71778203: 71778203
20 DYSF NM_003494.3(DYSF): c.1555G> A (p.Gly519Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908962 GRCh38 Chromosome 2, 71551073: 71551073
21 DYSF NM_003494.3(DYSF): c.895G> A (p.Gly299Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908963 GRCh37 Chromosome 2, 71744158: 71744158
22 DYSF NM_003494.3(DYSF): c.895G> A (p.Gly299Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908963 GRCh38 Chromosome 2, 71517028: 71517028
23 DYSF NM_001130978.1(DYSF): c.895G> T (p.Gly299Trp) single nucleotide variant Pathogenic rs121908963 GRCh37 Chromosome 2, 71744158: 71744158
24 DYSF NM_001130978.1(DYSF): c.895G> T (p.Gly299Trp) single nucleotide variant Pathogenic rs121908963 GRCh38 Chromosome 2, 71517028: 71517028
25 DYSF NM_003494.3(DYSF): c.2779delG (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh37 Chromosome 2, 71795437: 71795437
26 DYSF NM_003494.3(DYSF): c.2779delG (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh38 Chromosome 2, 71568307: 71568307
27 DYSF NM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys) single nucleotide variant Pathogenic rs786205084 GRCh38 Chromosome 2, 71668842: 71668842
28 DYSF NM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys) single nucleotide variant Pathogenic rs786205084 GRCh37 Chromosome 2, 71895972: 71895972
29 DYSF NM_003494.3(DYSF): c.1053+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123763 GRCh37 Chromosome 2, 71748035: 71748035
30 DYSF NM_003494.3(DYSF): c.1053+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123763 GRCh38 Chromosome 2, 71520905: 71520905
31 DYSF NM_003494.3(DYSF): c.107_108delAA (p.Lys36Serfs) deletion Pathogenic rs398123764 GRCh37 Chromosome 2, 71708031: 71708032
32 DYSF NM_003494.3(DYSF): c.107_108delAA (p.Lys36Serfs) deletion Pathogenic rs398123764 GRCh38 Chromosome 2, 71480901: 71480902
33 DYSF NM_003494.3(DYSF): c.1180+11C> T single nucleotide variant Benign/Likely benign rs35982795 GRCh37 Chromosome 2, 71753487: 71753487
34 DYSF NM_003494.3(DYSF): c.1180+11C> T single nucleotide variant Benign/Likely benign rs35982795 GRCh38 Chromosome 2, 71526357: 71526357
35 DYSF NM_003494.3(DYSF): c.1284+2T> C single nucleotide variant Pathogenic rs398123765 GRCh37 Chromosome 2, 71755533: 71755533
36 DYSF NM_003494.3(DYSF): c.1284+2T> C single nucleotide variant Pathogenic rs398123765 GRCh38 Chromosome 2, 71528403: 71528403
37 DYSF NM_003494.3(DYSF): c.1353+13C> T single nucleotide variant Benign rs4852801 GRCh37 Chromosome 2, 71762232: 71762232
38 DYSF NM_003494.3(DYSF): c.1353+13C> T single nucleotide variant Benign rs4852801 GRCh38 Chromosome 2, 71535102: 71535102
39 DYSF NM_003494.3(DYSF): c.1368C> A (p.Cys456Ter) single nucleotide variant Pathogenic rs202044973 GRCh37 Chromosome 2, 71762412: 71762412
40 DYSF NM_003494.3(DYSF): c.1368C> A (p.Cys456Ter) single nucleotide variant Pathogenic rs202044973 GRCh38 Chromosome 2, 71535282: 71535282
41 DYSF NM_003494.3(DYSF): c.1392dupA (p.Asp465Argfs) duplication Pathogenic rs398123767 GRCh37 Chromosome 2, 71762436: 71762436
42 DYSF NM_003494.3(DYSF): c.1392dupA (p.Asp465Argfs) duplication Pathogenic rs398123767 GRCh38 Chromosome 2, 71535306: 71535306
43 DYSF NM_003494.3(DYSF): c.1398-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123768 GRCh37 Chromosome 2, 71766286: 71766286
44 DYSF NM_003494.3(DYSF): c.1398-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123768 GRCh38 Chromosome 2, 71539156: 71539156
45 DYSF NM_003494.3(DYSF): c.1398-2A> G single nucleotide variant Pathogenic rs398123769 GRCh37 Chromosome 2, 71766285: 71766285
46 DYSF NM_003494.3(DYSF): c.1398-2A> G single nucleotide variant Pathogenic rs398123769 GRCh38 Chromosome 2, 71539155: 71539155
47 DYSF NM_003494.3(DYSF): c.1481-1G> A single nucleotide variant Pathogenic rs398123770 GRCh37 Chromosome 2, 71776479: 71776479
48 DYSF NM_003494.3(DYSF): c.1481-1G> A single nucleotide variant Pathogenic rs398123770 GRCh38 Chromosome 2, 71549349: 71549349
49 DYSF NM_003494.3(DYSF): c.1522+15C> G single nucleotide variant Benign/Likely benign rs76402294 GRCh37 Chromosome 2, 71776536: 71776536
50 DYSF NM_003494.3(DYSF): c.1522+15C> G single nucleotide variant Benign/Likely benign rs76402294 GRCh38 Chromosome 2, 71549406: 71549406

Expression for Miyoshi Muscular Dystrophy 1

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

Pathways for Miyoshi Muscular Dystrophy 1

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

# Super pathways Score Top Affiliating Genes
1 10.2 MIR146B MIR221

GO Terms for Miyoshi Muscular Dystrophy 1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.35 MIR132 MIR146B MIR148A MIR221 MIR381
2 micro-ribonucleoprotein complex GO:0035068 9.1 MIR132 MIR146B MIR148A MIR221 MIR381 MIR382

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.32 MIR132 MIR221
2 cholesterol homeostasis GO:0042632 9.26 MIR132 MIR148A
3 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.16 MIR146B MIR221
4 miRNA mediated inhibition of translation GO:0035278 9.13 MIR132 MIR148A MIR221
5 gene silencing by miRNA GO:0035195 9.1 MIR132 MIR146B MIR148A MIR221 MIR381 MIR382

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 8.92 MIR132 MIR146B MIR148A MIR221

Sources for Miyoshi Muscular Dystrophy 1

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