MMD1
MCID: MYS033
MIFTS: 50

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 58 12 76 30 13 6 15
Miyoshi Myopathy 58 54 26 60 76 38 30 56 6 74
Mmd1 58 12 76
Miyoshi Distal Myopathy 54 26
Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive 58
Muscular Dystrophy, Distal, Late Onset, Autosomal Recessive 54
Muscular Dystrophy Distal Late-Onset Autosomal Recessive 76
Distal Muscular Dystrophy, Miyoshi Type 26
Dystrophy, Muscular, Miyoshi Type 1 41
Miyoshi Muscular Dystrophy 26
Miyoshi Myopathy 1 12
Mmd 26
Mm 54

Characteristics:

Orphanet epidemiological data:

60
miyoshi myopathy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
miyoshi muscular dystrophy 1:
Onset and clinical course adult onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070199
OMIM 58 254130
KEGG 38 H01965
MeSH 45 D049310
MESH via Orphanet 46 C537480
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C1850808
Orphanet 60 ORPHA45448
UMLS 74 C1850808

Summaries for Miyoshi Muscular Dystrophy 1

NIH Rare Diseases : 54 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). The drugs Deflazacort and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, kidney and prostate, and related phenotypes are deposits immunoreactive to beta-amyloid protein 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 : 26 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 : 58 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 : 76 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 366)
# Related Disease Score Top Affiliating Genes
1 polymyositis 29.7 MIR21 MIR210 MIR382
2 pancreatic ductal adenocarcinoma 29.6 MIR148A MIR21
3 squamous cell carcinoma, head and neck 29.1 MIR148A MIR21 MIR210
4 miyoshi muscular dystrophy 3 11.8
5 multiple mitochondrial dysfunctions syndrome 11.8
6 medial medullary syndrome 11.6
7 myeloma, multiple 11.5
8 miyoshi muscular dystrophy 11.5
9 miyoshi muscular dystrophy 2 11.4
10 minicore myopathy with external ophthalmoplegia 11.3
11 dysferlinopathy 11.3
12 rigid spine muscular dystrophy 1 11.3
13 multiple mitochondrial dysfunctions syndrome 1 11.3
14 multiminicore disease 11.3
15 bronchiolo-alveolar adenocarcinoma 11.2
16 mitral valve prolapse 1 11.1
17 mesomelia-synostoses syndrome 11.1
18 microphthalmia, isolated 6 11.1
19 microcoria, congenital 11.0
20 mitral valve prolapse 2 11.0
21 sessile serrated polyposis cancer syndrome 11.0
22 choroid disease 11.0
23 spinal cord disease 11.0
24 purpura 11.0
25 x-linked lissencephaly with abnormal genitalia 11.0
26 apnea, obstructive sleep 11.0
27 acyl-coa dehydrogenase, short-chain, deficiency of 11.0
28 alpha-methylacetoacetic aciduria 11.0
29 histidinemia 11.0
30 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.0
31 moyamoya disease 1 11.0
32 holocarboxylase synthetase deficiency 11.0
33 transcobalamin ii deficiency 11.0
34 methylmalonic aciduria and homocystinuria, cblc type 11.0
35 noonan syndrome 10 11.0
36 female stress incontinence 11.0
37 3-methylcrotonyl-coa carboxylase deficiency 11.0
38 mixed sleep apnea 11.0
39 phaeohyphomycosis 11.0
40 methylmalonic acidemia 11.0
41 hemopneumothorax 11.0
42 childhood kidney cell carcinoma 11.0
43 intraocular retinoblastoma 11.0
44 sleep disorder 11.0
45 amino acid metabolic disorder 11.0
46 histidine metabolism disease 11.0
47 myopathy 10.9
48 cataract 1, multiple types 10.9
49 chiari malformation type i 10.9
50 epithelial recurrent erosion dystrophy 10.9

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

Human phenotypes related to Miyoshi Muscular Dystrophy 1:

33 60 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 deposits immunoreactive to beta-amyloid protein 33 occasional (7.5%) HP:0003791
2 toe walking 60 33 Occasional (29-5%) HP:0040083
3 difficulty climbing stairs 60 33 Frequent (79-30%) HP:0003551
4 decreased/absent ankle reflexes 60 33 Occasional (29-5%) HP:0200101
5 abnormality of the cardiovascular system 60 Excluded (0%)
6 respiratory insufficiency due to muscle weakness 60 Excluded (0%)
7 proximal muscle weakness in lower limbs 60 Frequent (79-30%)
8 myalgia 60 Occasional (29-5%)
9 muscle stiffness 60 Excluded (0%)
10 pelvic girdle muscle weakness 60 Frequent (79-30%)
11 difficulty walking 60 Frequent (79-30%)
12 foot dorsiflexor weakness 60 Occasional (29-5%)
13 lower limb muscle weakness 33 HP:0007340
14 muscle fibrillation 33 HP:0010546
15 distal lower limb muscle weakness 60 Frequent (79-30%)
16 muscular dystrophy 33 HP:0003560
17 proximal amyotrophy 60 Frequent (79-30%)
18 exercise-induced myalgia 60 Frequent (79-30%)
19 calf muscle hypertrophy 60 Occasional (29-5%)
20 distal muscle weakness 33 HP:0002460
21 tibialis muscle weakness 60 Frequent (79-30%)
22 intrinsic hand muscle atrophy 60 Excluded (0%)
23 quadriceps muscle weakness 60 Frequent (79-30%)
24 distal amyotrophy 33 HP:0003693
25 distal lower limb amyotrophy 60 Frequent (79-30%)
26 shoulder girdle muscle weakness 60 Frequent (79-30%)
27 loss of ability to walk 60 Occasional (29-5%)
28 difficulty standing 60 Frequent (79-30%)
29 decreased achilles reflex 33 HP:0009072
30 triceps weakness 60 Occasional (29-5%)
31 distal upper limb amyotrophy 60 Frequent (79-30%)
32 tibialis atrophy 60 Frequent (79-30%)
33 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
difficulty climbing stairs
decreased grip strength
decreased or absent ankle reflexes
muscle biopsy shows dystrophic changes
amyloid deposition in muscle fibers occurs rarely
more
Laboratory Abnormalities:
increased creatine kinase

Clinical features from OMIM:

254130

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 Anti-Inflammatory Agents Phase 2, Phase 3
4 Immunosuppressive 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 Clinical Outcome Study for Dysferlinopathy Unknown status NCT01676077
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

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 30 DYSF
2 Miyoshi Myopathy 30

Anatomical Context for Miyoshi Muscular Dystrophy 1

MalaCards organs/tissues related to Miyoshi Muscular Dystrophy 1:

42
Skeletal Muscle, Kidney, Prostate, Heart, Thyroid, Skin, Tongue

Publications for Miyoshi Muscular Dystrophy 1

Articles related to Miyoshi Muscular Dystrophy 1:

(show all 45)
# 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
Discordant manifestation in brothers with Miyoshi myopathy. ( 28131235 )
2017
5
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? ( 28053302 )
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
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. ( 25313375 )
2014
9
Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected]. ( 23519732 )
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
Dysferlin-deficient muscular dystrophy features amyloidosis. ( 18306167 )
2008
14
A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene. ( 17868276 )
2007
15
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. ( 17132147 )
2007
16
Symptomatic dysferlin gene mutation carriers: characterization of two cases. ( 17287450 )
2007
17
[Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases]. ( 17785089 )
2007
18
Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy. ( 16023782 )
2006
19
Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. ( 16891820 )
2006
20
Calf-head sign in Miyoshi myopathy. ( 17030657 )
2006
21
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. ( 16010686 )
2005
22
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. ( 16087766 )
2005
23
Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy. ( 15469449 )
2004
24
Miyoshi myopathy--an unusual cause of calf pain and tightness. ( 14712166 )
2004
25
Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy. ( 15116377 )
2004
26
Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy. ( 15515206 )
2004
27
[Dysferlin deficiency: the cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree]. ( 15079794 )
2004
28
Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. ( 12796534 )
2003
29
A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. ( 11782994 )
2002
30
Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma. ( 12410383 )
2002
31
A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy. ( 11257469 )
2001
32
Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene. ( 11231027 )
2001
33
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. ( 11468312 )
2001
34
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). ( 11053681 )
2000
35
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. ( 11134403 )
2000
36
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). ( 10196377 )
1999
37
Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. ( 10496277 )
1999
38
Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. ( 10545047 )
1999
39
Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. ( 9570945 )
1998
40
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. ( 9731526 )
1998
41
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. ( 9673986 )
1998
42
Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes. ( 10737122 )
1998
43
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. ( 8808603 )
1996
44
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. ( 9009996 )
1996
45
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:

76 (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 rs125872878
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 578)
# 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_001130978.1(DYSF): c.2372C> G (p.Pro791Arg) single nucleotide variant Pathogenic rs121908956 GRCh37 Chromosome 2, 71791204: 71791204
8 DYSF NM_001130978.1(DYSF): c.2372C> G (p.Pro791Arg) single nucleotide variant Pathogenic rs121908956 GRCh38 Chromosome 2, 71564074: 71564074
9 DYSF NM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp) indel Pathogenic rs121908957 GRCh37 Chromosome 2, 71709064: 71709065
10 DYSF NM_001130978.1(DYSF): c.200_201delTGinsAT (p.Val67Asp) indel Pathogenic rs121908957 GRCh38 Chromosome 2, 71481934: 71481935
11 DYSF NM_003494.3(DYSF): c.2997G> T (p.Trp999Cys) single nucleotide variant Pathogenic rs28937581 GRCh37 Chromosome 2, 71797430: 71797430
12 DYSF NM_003494.3(DYSF): c.2997G> T (p.Trp999Cys) single nucleotide variant Pathogenic rs28937581 GRCh38 Chromosome 2, 71570300: 71570300
13 DYSF NM_003494.3(DYSF): c.3137G> A (p.Arg1046His) single nucleotide variant Pathogenic/Likely pathogenic rs121908958 GRCh37 Chromosome 2, 71797834: 71797834
14 DYSF NM_003494.3(DYSF): c.3137G> A (p.Arg1046His) single nucleotide variant Pathogenic/Likely pathogenic rs121908958 GRCh38 Chromosome 2, 71570704: 71570704
15 DYSF NM_003494.3(DYSF): c.5713C> T (p.Arg1905Ter) single nucleotide variant Pathogenic rs121908959 GRCh37 Chromosome 2, 71901372: 71901372
16 DYSF NM_003494.3(DYSF): c.5713C> T (p.Arg1905Ter) single nucleotide variant Pathogenic rs121908959 GRCh38 Chromosome 2, 71674242: 71674242
17 DYSF NM_003494.3(DYSF): c.1555G> A (p.Gly519Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908962 GRCh37 Chromosome 2, 71778203: 71778203
18 DYSF NM_003494.3(DYSF): c.1555G> A (p.Gly519Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908962 GRCh38 Chromosome 2, 71551073: 71551073
19 DYSF NM_003494.3(DYSF): c.895G> A (p.Gly299Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908963 GRCh37 Chromosome 2, 71744158: 71744158
20 DYSF NM_003494.3(DYSF): c.895G> A (p.Gly299Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908963 GRCh38 Chromosome 2, 71517028: 71517028
21 DYSF NM_001130978.1(DYSF): c.895G> T (p.Gly299Trp) single nucleotide variant Pathogenic rs121908963 GRCh37 Chromosome 2, 71744158: 71744158
22 DYSF NM_001130978.1(DYSF): c.895G> T (p.Gly299Trp) single nucleotide variant Pathogenic rs121908963 GRCh38 Chromosome 2, 71517028: 71517028
23 DYSF NM_003494.3(DYSF): c.2779del (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh37 Chromosome 2, 71795437: 71795437
24 DYSF NM_003494.3(DYSF): c.2779del (p.Ala927Leufs) deletion Pathogenic rs727503909 GRCh38 Chromosome 2, 71568307: 71568307
25 DYSF NM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys) single nucleotide variant Pathogenic rs786205084 GRCh38 Chromosome 2, 71668842: 71668842
26 DYSF NM_003494.3(DYSF): c.5429G> A (p.Arg1810Lys) single nucleotide variant Pathogenic rs786205084 GRCh37 Chromosome 2, 71895972: 71895972
27 DYSF NM_003494.3(DYSF): c.1053+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123763 GRCh37 Chromosome 2, 71748035: 71748035
28 DYSF NM_003494.3(DYSF): c.1053+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123763 GRCh38 Chromosome 2, 71520905: 71520905
29 DYSF NM_003494.3(DYSF): c.107_108delAA (p.Lys36Serfs) deletion Pathogenic rs398123764 GRCh37 Chromosome 2, 71708031: 71708032
30 DYSF NM_003494.3(DYSF): c.107_108delAA (p.Lys36Serfs) deletion Pathogenic rs398123764 GRCh38 Chromosome 2, 71480901: 71480902
31 DYSF NM_003494.3(DYSF): c.1180+11C> T single nucleotide variant Benign/Likely benign rs35982795 GRCh37 Chromosome 2, 71753487: 71753487
32 DYSF NM_003494.3(DYSF): c.1180+11C> T single nucleotide variant Benign/Likely benign rs35982795 GRCh38 Chromosome 2, 71526357: 71526357
33 DYSF NM_003494.3(DYSF): c.1284+2T> C single nucleotide variant Pathogenic rs398123765 GRCh37 Chromosome 2, 71755533: 71755533
34 DYSF NM_003494.3(DYSF): c.1284+2T> C single nucleotide variant Pathogenic rs398123765 GRCh38 Chromosome 2, 71528403: 71528403
35 DYSF NM_003494.3(DYSF): c.1353+13C> T single nucleotide variant Benign rs4852801 GRCh37 Chromosome 2, 71762232: 71762232
36 DYSF NM_003494.3(DYSF): c.1353+13C> T single nucleotide variant Benign rs4852801 GRCh38 Chromosome 2, 71535102: 71535102
37 DYSF NM_003494.3(DYSF): c.1392dupA (p.Asp465Argfs) duplication Pathogenic rs398123767 GRCh37 Chromosome 2, 71762436: 71762436
38 DYSF NM_003494.3(DYSF): c.1392dupA (p.Asp465Argfs) duplication Pathogenic rs398123767 GRCh38 Chromosome 2, 71535306: 71535306
39 DYSF NM_003494.3(DYSF): c.1398-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123768 GRCh37 Chromosome 2, 71766286: 71766286
40 DYSF NM_003494.3(DYSF): c.1398-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123768 GRCh38 Chromosome 2, 71539156: 71539156
41 DYSF NM_003494.3(DYSF): c.1398-2A> G single nucleotide variant Pathogenic rs398123769 GRCh37 Chromosome 2, 71766285: 71766285
42 DYSF NM_003494.3(DYSF): c.1398-2A> G single nucleotide variant Pathogenic rs398123769 GRCh38 Chromosome 2, 71539155: 71539155
43 DYSF NM_003494.3(DYSF): c.1481-1G> A single nucleotide variant Pathogenic rs398123770 GRCh37 Chromosome 2, 71776479: 71776479
44 DYSF NM_003494.3(DYSF): c.1481-1G> A single nucleotide variant Pathogenic rs398123770 GRCh38 Chromosome 2, 71549349: 71549349
45 DYSF NM_003494.3(DYSF): c.1522+15C> G single nucleotide variant Benign/Likely benign rs76402294 GRCh37 Chromosome 2, 71776536: 71776536
46 DYSF NM_003494.3(DYSF): c.1522+15C> G single nucleotide variant Benign/Likely benign rs76402294 GRCh38 Chromosome 2, 71549406: 71549406
47 DYSF NM_003494.3(DYSF): c.1638+2T> A single nucleotide variant Pathogenic rs398123771 GRCh37 Chromosome 2, 71778288: 71778288
48 DYSF NM_003494.3(DYSF): c.1638+2T> A single nucleotide variant Pathogenic rs398123771 GRCh38 Chromosome 2, 71551158: 71551158
49 DYSF NM_003494.3(DYSF): c.1642delG (p.Glu548Lysfs) deletion Pathogenic rs398123772 GRCh37 Chromosome 2, 71778740: 71778740
50 DYSF NM_003494.3(DYSF): c.1642delG (p.Glu548Lysfs) deletion Pathogenic rs398123772 GRCh38 Chromosome 2, 71551610: 71551610

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:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.26 MIR148A MIR21 MIR210 MIR381
2 micro-ribonucleoprotein complex GO:0035068 9.1 MIR148A MIR154 MIR21 MIR210 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 angiogenesis GO:0045766 9.26 MIR21 MIR210
2 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 9.16 MIR21 MIR210
3 miRNA mediated inhibition of translation GO:0035278 9.13 MIR148A MIR21 MIR210
4 gene silencing by miRNA GO:0035195 9.1 MIR148A MIR154 MIR21 MIR210 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 8.8 MIR148A MIR21 MIR210

Sources for Miyoshi Muscular Dystrophy 1

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