MMD1
MCID: MYS033
MIFTS: 52

Miyoshi Muscular Dystrophy 1 (MMD1)

Categories: Blood diseases, 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 72 29 13 6 15
Miyoshi Myopathy 57 20 43 58 72 36 29 54 6 70
Mmd1 57 12 72
Miyoshi Distal Myopathy 20 43
Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive 57
Muscular Dystrophy, Distal, Late Onset, Autosomal Recessive 20
Muscular Dystrophy Distal Late-Onset Autosomal Recessive 72
Distal Muscular Dystrophy, Miyoshi Type 43
Dystrophy, Muscular, Miyoshi Type 1 39
Miyoshi Muscular Dystrophy 43
Miyoshi Myopathy 1 12
Mmd 43
Mm 20

Characteristics:

Orphanet epidemiological data:

58
miyoshi myopathy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Japan); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
miyoshi muscular dystrophy 1:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070199
OMIM® 57 254130
OMIM Phenotypic Series 57 PS254130
KEGG 36 H01965
MeSH 44 D049310
MESH via Orphanet 45 C537480
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C1850808
Orphanet 58 ORPHA45448
UMLS 70 C1850808

Summaries for Miyoshi Muscular Dystrophy 1

MedlinePlus Genetics : 43 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.As Miyoshi myopathy slowly worsens, the muscle weakness and atrophy spread up the leg to the muscles in the thigh and buttock and can also involve the upper arm and shoulder muscles. Eventually, affected individuals may have difficulty climbing stairs or walking for an extended period of time. Some people with Miyoshi myopathy may eventually need wheelchair assistance.Rarely, abnormal heart rhythms (arrhythmias) have developed in people with Miyoshi myopathy. Individuals with Miyoshi myopathy have highly elevated levels of an enzyme called creatine kinase (CK) in their blood, which often indicates muscle disease.

MalaCards based summary : Miyoshi Muscular Dystrophy 1, also known as miyoshi myopathy, is related to muscular dystrophy, becker type and muscular dystrophy, limb-girdle, autosomal recessive 1, 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 are MicroRNAs in cancer and miRNAs involved in DNA damage response. Affiliated tissues include skeletal muscle, brain and heart, and related phenotypes are pelvic girdle muscle weakness and proximal amyotrophy

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

GARD : 20 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.

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) (Updated 05-Apr-2021)

KEGG : 36 Miyoshi myopathy (MM) is a rare autosomal recessive distal myopathy characterized by weakness and atrophy that begins in the posterior compartment muscles of the legs. The onset of symptoms is in young adulthood and often begins with the inability to toe walk. Miyoshi myopathy 1 (MM1) is caused by mutations in the dysferlin gene. Recently, anoctamin 5 (ANO5) was also identified, causing Miyoshi myopathy 3 (MMD3).

UniProtKB/Swiss-Prot : 72 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 153)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 30.2 MIR221 MIR146B DYSF
2 muscular dystrophy, limb-girdle, autosomal recessive 1 29.7 MIR155 MIR154 MIR148A MIR146B MIR132 MIR130A
3 inclusion body myositis 28.7 MIR34A MIR223 MIR222 MIR221 MIR214 MIR21
4 polymyositis 27.4 MIR34A MIR30A MIR222 MIR221 MIR214 MIR210
5 miyoshi muscular dystrophy 3 11.4
6 miyoshi muscular dystrophy 11.4
7 multiminicore disease 11.3
8 miyoshi muscular dystrophy 2 11.3
9 dysferlinopathy 11.2
10 minicore myopathy with external ophthalmoplegia 11.1
11 rigid spine muscular dystrophy 1 11.1
12 myopathy 10.8
13 muscular dystrophy 10.7
14 limb-girdle muscular dystrophy 10.7
15 qualitative or quantitative defects of dysferlin 10.6
16 muscular dystrophy, limb-girdle, autosomal recessive 2 10.6
17 autosomal recessive limb-girdle muscular dystrophy type 2b 10.5
18 autosomal recessive distal myopathy 10.3
19 muscular atrophy 10.1
20 muscle tissue disease 10.1 MIR221 MIR132 DYSF
21 myotonic dystrophy 10.1
22 mature b-cell neoplasm 10.1 MIR222 MIR155 MIR148A
23 autoimmune disease of central nervous system 10.0 MIR223 MIR155 MIR132
24 muscular disease 10.0 MIR221 MIR21 DYSF
25 autoimmune disease of the nervous system 10.0 MIR223 MIR155 MIR132
26 thyroid gland disease 10.0 MIR222 MIR221 MIR146B
27 primary bacterial infectious disease 10.0 MIR223 MIR21 MIR155
28 extrinsic cardiomyopathy 10.0 MIR223 MIR210 MIR21
29 atrial standstill 1 10.0
30 myositis 10.0
31 obsessive-compulsive disorder 10.0
32 myopathy, distal, with anterior tibial onset 10.0
33 muscular dystrophy, limb-girdle, autosomal recessive 12 10.0
34 autosomal recessive disease 10.0
35 neuromuscular disease 10.0
36 calpain-3-related limb-girdle muscular dystrophy r1 10.0
37 renal fibrosis 10.0 MIR214 MIR21 MIR155 MIR130A
38 thyroid gland follicular carcinoma 10.0 MIR222 MIR221 MIR146B
39 trichorhinophalangeal syndrome, type i 10.0 MIR222 MIR221
40 retinal vascular disease 9.9 MIR30A MIR21 MIR146B
41 chromosomal disease 9.9 MIR223 MIR21 MIR155
42 spinal disease 9.9 MIR223 MIR21 MIR155
43 demyelinating disease 9.9 MIR223 MIR155 MIR132
44 microvascular complications of diabetes 5 9.9 MIR30A MIR21 MIR146B
45 leukocyte disease 9.9 MIR30A MIR21 MIR155
46 mycobacterium tuberculosis 1 9.9 MIR223 MIR21 MIR155
47 central core disease of muscle 9.9
48 myopathy, distal, 1 9.9
49 small cell cancer of the lung 9.9
50 moyamoya disease 1 9.9

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:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pelvic girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003749
2 proximal amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007126
3 quadriceps muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003731
4 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
5 distal upper limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007149
6 exercise-induced myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003738
7 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
8 tibialis muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0008963
9 shoulder girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003547
10 difficulty standing 58 31 frequent (33%) Frequent (79-30%) HP:0003698
11 tibialis atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0011399
12 toe walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0040083
13 calf muscle hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008981
14 loss of ability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0006957
15 foot dorsiflexor weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009027
16 triceps weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0031108
17 decreased/absent ankle reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0200101
18 deposits immunoreactive to beta-amyloid protein 31 occasional (7.5%) HP:0003791
19 abnormality of the cardiovascular system 58 Excluded (0%)
20 elevated serum creatine kinase 31 HP:0003236
21 proximal muscle weakness in lower limbs 58 Frequent (79-30%)
22 respiratory insufficiency due to muscle weakness 58 Excluded (0%)
23 muscle stiffness 58 Excluded (0%)
24 myalgia 58 Occasional (29-5%)
25 distal lower limb muscle weakness 58 Frequent (79-30%)
26 muscular dystrophy 31 HP:0003560
27 distal muscle weakness 31 HP:0002460
28 distal amyotrophy 31 HP:0003693
29 intrinsic hand muscle atrophy 58 Excluded (0%)
30 distal lower limb amyotrophy 58 Frequent (79-30%)
31 lower limb muscle weakness 31 HP:0007340
32 muscle fibrillation 31 HP:0010546
33 decreased achilles reflex 31 HP:0009072

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
difficulty climbing stairs
decreased grip strength
decreased or absent ankle reflexes
difficulty in toe walking
preserved heel standing
more
Laboratory Abnormalities:
increased creatine kinase

Clinical features from OMIM®:

254130 (Updated 05-Apr-2021)

UMLS symptoms related to Miyoshi Muscular Dystrophy 1:


decreased grip strength

Drugs & Therapeutics for Miyoshi Muscular Dystrophy 1

Search Clinical Trials , 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:

40
Skeletal Muscle, Brain, Heart

Publications for Miyoshi Muscular Dystrophy 1

Articles related to Miyoshi Muscular Dystrophy 1:

(show top 50) (show all 220)
# Title Authors PMID Year
1
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. 57 6 54 61
9731526 1998
2
Dysferlin-deficient muscular dystrophy features amyloidosis. 57 6 54
18306167 2008
3
Symptomatic dysferlin gene mutation carriers: characterization of two cases. 61 57 6
17287450 2007
4
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. 61 6 57
8808603 1996
5
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. 6 61 54
16087766 2005
6
Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. 54 61 6
12796534 2003
7
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. 57 61
21522182 2011
8
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. 6 61
11468312 2001
9
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. 61 6
11134403 2000
10
Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. 61 57
10545047 1999
11
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). 6 61
10196377 1999
12
Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes. 61 57
10737122 1998
13
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. 61 6
9009996 1996
14
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. 57 61
7723968 1995
15
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
16
Progressive dysphagia in limb-girdle muscular dystrophy type 2B. 6
21484829 2011
17
Novel diagnostic features of dysferlinopathies. 6
20544924 2010
18
Distinctive patterns of microRNA expression in primary muscular disorders. 61 47
17942673 2007
19
Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy. 57
15477515 2004
20
Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus. 57
12836053 2003
21
The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. 57
10469840 1999
22
Autosomal recessive distal muscular dystrophy: normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers. 57
7836950 1994
23
Autosomal recessive distal myopathy. 57
3350979 1988
24
Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. 57
3942856 1986
25
A new type of distal myopathy in two brothers. 57
6172565 1981
26
[Distal myopathy--evaluation of 4 cases in 2 families]. 57
4798256 1973
27
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 54 61
20096397 2010
28
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. 54 61
19953532 2010
29
Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. 61 54
19154541 2009
30
[Amyloidosis in muscular dystrophy]. 61 54
19326120 2009
31
Analysis of the DYSF mutational spectrum in a large cohort of patients. 61 54
18853459 2009
32
Challenges for the genetic screening in dysferlin deficiency--report of an instructive case and review of the literature. 61 54
18808059 2008
33
Late onset in dysferlinopathy widens the clinical spectrum. 61 54
18396043 2008
34
Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. 61 54
18276788 2008
35
Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene. 54 61
17825554 2007
36
A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene. 54 61
17868276 2007
37
[Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases]. 54 61
17785089 2007
38
Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II). 61 54
17331981 2007
39
Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family. 61 54
18294055 2007
40
Histological and immunohistological changes of the skeletal muscles in older SJL/J mice. 61 54
17108690 2007
41
The muscle protein dysferlin accumulates in the Alzheimer brain. 54 61
17024495 2006
42
Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions. 61 54
16996541 2006
43
Identification and characterization of a novel human dysferlin transcript: dysferlin_v1. 61 54
16896923 2006
44
Calf-head sign in Miyoshi myopathy. 54 61
17030657 2006
45
Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. 61 54
16891820 2006
46
Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. 54 61
16705711 2006
47
Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy. 61 54
16023782 2006
48
Expression of myoferlin in skeletal muscles of patients with dysferlinopathy. 54 61
16707852 2006
49
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. 54 61
16100712 2005
50
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. 61 54
16010686 2005

Variations for Miyoshi Muscular Dystrophy 1

ClinVar genetic disease variations for Miyoshi Muscular Dystrophy 1:

6 (show top 50) (show all 284)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DYSF NM_001130987.2(DYSF):c.5757del (p.Glu1920fs) Deletion Pathogenic 689493 rs1573100371 GRCh37: 2:71896849-71896849
GRCh38: 2:71669719-71669719
2 DYSF NM_001130987.2(DYSF):c.5405del (p.Glu1802fs) Deletion Pathogenic 834073 GRCh37: 2:71894593-71894593
GRCh38: 2:71667463-71667463
3 DYSF NM_001130987.2(DYSF):c.147+1G>A SNV Pathogenic 973349 GRCh37: 2:71708069-71708069
GRCh38: 2:71480939-71480939
4 DYSF NM_001130987.2(DYSF):c.2864+1G>A SNV Pathogenic 443997 rs199954546 GRCh37: 2:71795469-71795469
GRCh38: 2:71568339-71568339
5 DYSF NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter) SNV Pathogenic 6665 rs121908953 GRCh37: 2:71780201-71780201
GRCh38: 2:71553071-71553071
6 DYSF NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp) SNV Pathogenic 6682 rs121908963 GRCh37: 2:71744158-71744158
GRCh38: 2:71517028-71517028
7 DYSF NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp) Indel Pathogenic 6673 rs121908957 GRCh37: 2:71709064-71709065
GRCh38: 2:71481934-71481935
8 DYSF NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer) Indel Pathogenic 94305 rs398123781 GRCh37: 2:71817342-71817343
GRCh38: 2:71590212-71590213
9 DYSF NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) SNV Pathogenic 265487 rs758180890 GRCh37: 2:71753425-71753425
GRCh38: 2:71526295-71526295
10 DYSF NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp) SNV Pathogenic 284254 rs202218890 GRCh37: 2:71797014-71797014
GRCh38: 2:71569884-71569884
11 DYSF NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) SNV Pathogenic 6667 rs121908954 GRCh37: 2:71829924-71829924
GRCh38: 2:71602794-71602794
12 DYSF NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) SNV Pathogenic 6668 rs121908955 GRCh37: 2:71909727-71909727
GRCh38: 2:71682597-71682597
13 DYSF NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg) SNV Pathogenic 6671 rs121908956 GRCh37: 2:71791204-71791204
GRCh38: 2:71564074-71564074
14 DYSF NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) SNV Pathogenic 6674 rs28937581 GRCh37: 2:71797430-71797430
GRCh38: 2:71570300-71570300
15 DYSF NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) SNV Pathogenic 6675 rs121908958 GRCh37: 2:71797834-71797834
GRCh38: 2:71570704-71570704
16 DYSF NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) SNV Pathogenic 6676 rs121908959 GRCh37: 2:71901372-71901372
GRCh38: 2:71674242-71674242
17 DYSF NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg) SNV Pathogenic 6679 rs121908962 GRCh37: 2:71778203-71778203
GRCh38: 2:71551073-71551073
18 DYSF NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) SNV Pathogenic 217223 rs746873768 GRCh37: 2:71780222-71780222
GRCh38: 2:71553092-71553092
19 DYSF NM_001130987.2(DYSF):c.2697+1G>A SNV Pathogenic 94291 rs140108514 GRCh37: 2:71795213-71795213
GRCh38: 2:71568083-71568083
20 DYSF NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter) SNV Pathogenic 265108 rs746315830 GRCh37: 2:71730438-71730438
GRCh38: 2:71503308-71503308
21 DYSF NM_001130987.2(DYSF):c.3086-2A>G SNV Pathogenic 1028124 GRCh37: 2:71797727-71797727
GRCh38: 2:71570597-71570597
22 DYSF NM_001130987.2(DYSF):c.5188C>T (p.Gln1730Ter) SNV Pathogenic 1028125 GRCh37: 2:71892305-71892305
GRCh38: 2:71665175-71665175
23 DYSF NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) SNV Pathogenic 94269 rs202044973 GRCh37: 2:71762412-71762412
GRCh38: 2:71535282-71535282
24 DYSF NM_001130987.2(DYSF):c.356del (p.Val119fs) Deletion Pathogenic 94308 rs398123782 GRCh37: 2:71738947-71738947
GRCh38: 2:71511817-71511817
25 DYSF NM_001130987.2(DYSF):c.952-2A>G SNV Pathogenic 556459 rs1553522730 GRCh37: 2:71744117-71744117
GRCh38: 2:71516987-71516987
26 DYSF NM_001130987.2(DYSF):c.2697+1G>A SNV Pathogenic/Likely pathogenic 94291 rs140108514 GRCh37: 2:71795213-71795213
GRCh38: 2:71568083-71568083
27 DYSF NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer) Deletion Likely pathogenic 217226 rs766341386 GRCh37: 2:71817411-71817412
GRCh38: 2:71590281-71590282
28 DYSF NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) SNV Likely pathogenic 6675 rs121908958 GRCh37: 2:71797834-71797834
GRCh38: 2:71570704-71570704
29 DYSF NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp) SNV Likely pathogenic 617543 rs1024524968 GRCh37: 2:71896803-71896803
GRCh38: 2:71669673-71669673
30 DYSF NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) Deletion Likely pathogenic 6685 rs727503909 GRCh37: 2:71795435-71795435
GRCh38: 2:71568305-71568305
31 DYSF NM_001130987.2(DYSF):c.1149+1G>A SNV Likely pathogenic 94262 rs398123763 GRCh37: 2:71748035-71748035
GRCh38: 2:71520905-71520905
32 DYSF NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) SNV Likely pathogenic 551236 rs750028300 GRCh37: 2:71797407-71797407
GRCh38: 2:71570277-71570277
33 DYSF NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter) SNV Likely pathogenic 983669 GRCh37: 2:71791341-71791341
GRCh38: 2:71564211-71564211
34 DYSF NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter) SNV Likely pathogenic 938081 GRCh37: 2:71795083-71795083
GRCh38: 2:71567953-71567953
35 DYSF NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter) SNV Likely pathogenic 983670 GRCh37: 2:71795093-71795093
GRCh38: 2:71567963-71567963
36 DYSF NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter) SNV Likely pathogenic 983671 GRCh37: 2:71795151-71795151
GRCh38: 2:71568021-71568021
37 DYSF NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter) SNV Likely pathogenic 983672 GRCh37: 2:71795159-71795159
GRCh38: 2:71568029-71568029
38 DYSF NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter) SNV Likely pathogenic 983673 GRCh37: 2:71795165-71795165
GRCh38: 2:71568035-71568035
39 DYSF NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter) SNV Likely pathogenic 983674 GRCh37: 2:71795189-71795189
GRCh38: 2:71568059-71568059
40 DYSF NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter) SNV Likely pathogenic 983675 GRCh37: 2:71795457-71795457
GRCh38: 2:71568327-71568327
41 DYSF NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter) SNV Likely pathogenic 983957 GRCh37: 2:71797392-71797392
GRCh38: 2:71570262-71570262
42 DYSF NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter) SNV Likely pathogenic 983958 GRCh37: 2:71797414-71797414
GRCh38: 2:71570284-71570284
43 DYSF NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter) SNV Likely pathogenic 983959 GRCh37: 2:71797822-71797822
GRCh38: 2:71570692-71570692
44 DYSF NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter) SNV Likely pathogenic 983960 GRCh37: 2:71801340-71801340
GRCh38: 2:71574210-71574210
45 DYSF NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter) SNV Likely pathogenic 983961 GRCh37: 2:71801352-71801352
GRCh38: 2:71574222-71574222
46 DYSF NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter) SNV Likely pathogenic 983962 GRCh37: 2:71817403-71817403
GRCh38: 2:71590273-71590273
47 DYSF NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter) SNV Likely pathogenic 983963 GRCh37: 2:71825770-71825770
GRCh38: 2:71598640-71598640
48 DYSF NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter) SNV Likely pathogenic 983964 GRCh37: 2:71825791-71825791
GRCh38: 2:71598661-71598661
49 DYSF NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter) SNV Likely pathogenic 984121 GRCh37: 2:71825798-71825798
GRCh38: 2:71598668-71598668
50 DYSF NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter) SNV Likely pathogenic 984122 GRCh37: 2:71827970-71827970
GRCh38: 2:71600840-71600840

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

72 (show all 31)
# 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.Gly299Glu VAR_024857 rs125872878
6 DYSF p.Cys456Trp VAR_024858
7 DYSF p.Arg555Trp VAR_024859 rs377735262
8 DYSF p.Arg959Trp VAR_024860 rs202218890
9 DYSF p.Arg1046His VAR_024863 rs121908958
10 DYSF p.Glu1335Lys VAR_024868 rs758993965
11 DYSF p.Arg1693Gln VAR_024870 rs779987458
12 DYSF p.Arg2000Gln VAR_024872 rs115407852
13 DYSF p.Val67Asp VAR_057835 rs121908957
14 DYSF p.Gly299Trp VAR_057841 rs121908963
15 DYSF p.Glu389Gln VAR_057846
16 DYSF p.Gly426Arg VAR_057848 rs886042093
17 DYSF p.Gly426Val VAR_057849
18 DYSF p.Gly519Arg VAR_057850 rs121908962
19 DYSF p.Gly618Arg VAR_057851 rs201049092
20 DYSF p.Trp999Cys VAR_057857 rs28937581
21 DYSF p.Pro1029Leu VAR_057858
22 DYSF p.Arg1041Cys VAR_057859 rs144598063
23 DYSF p.Cys1361Arg VAR_057863 rs776472879
24 DYSF p.Thr1662Arg VAR_057868
25 DYSF p.Gly1679Glu VAR_057870
26 DYSF p.Arg1693Trp VAR_057871 rs863225021
27 DYSF p.Asp1837Asn VAR_057874 rs398123794
28 DYSF p.Gly1842Asp VAR_057875 rs113169215
29 DYSF p.Leu1922Pro VAR_057876
30 DYSF p.Cys1942Gly VAR_057878
31 DYSF p.Pro2068Leu VAR_057881 rs149732545

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 11.81 MIR34A MIR335 MIR30A MIR223 MIR222 MIR221
2 11.03 MIR222 MIR221 MIR210
3 10.71 MIR222 MIR221 MIR146B

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 9.73 MIR335 MIR30A MIR223 MIR222 MIR221 MIR210
2 extracellular vesicle GO:1903561 9.23 MIR34A MIR30A MIR222 MIR221 MIR214 MIR21

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.01 MIR34A MIR223 MIR21 MIR155 MIR154 MIR132
2 positive regulation of protein kinase B signaling GO:0051897 9.95 MIR222 MIR221 MIR21 MIR132
3 negative regulation of inflammatory response GO:0050728 9.88 MIR223 MIR222 MIR221 MIR155
4 negative regulation of angiogenesis GO:0016525 9.88 MIR34A MIR222 MIR214 MIR21
5 negative regulation of gene expression GO:0010629 9.88 MIR34A MIR214 MIR21 MIR155 MIR154 MIR132
6 negative regulation of cell migration GO:0030336 9.86 MIR34A MIR214 MIR21
7 cellular response to hypoxia GO:0071456 9.85 MIR34A MIR214 MIR155
8 cholesterol homeostasis GO:0042632 9.83 MIR34A MIR155 MIR148A MIR132
9 positive regulation of angiogenesis GO:0045766 9.83 MIR30A MIR210 MIR21 MIR132 MIR130A
10 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.82 MIR221 MIR155 MIR146B
11 positive regulation of blood vessel endothelial cell migration GO:0043536 9.81 MIR30A MIR221 MIR210
12 positive regulation of epithelial to mesenchymal transition GO:0010718 9.81 MIR222 MIR221 MIR21
13 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.8 MIR34A MIR223 MIR214
14 positive regulation of G1/S transition of mitotic cell cycle GO:1900087 9.8 MIR222 MIR221 MIR214
15 negative regulation of NIK/NF-kappaB signaling GO:1901223 9.79 MIR223 MIR21 MIR132
16 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.79 MIR222 MIR221 MIR155
17 positive regulation of vascular endothelial cell proliferation GO:1905564 9.72 MIR21 MIR132 MIR130A
18 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903588 9.7 MIR222 MIR155
19 negative regulation of vascular endothelial cell proliferation GO:1905563 9.7 MIR34A MIR132
20 positive regulation of vascular associated smooth muscle cell migration GO:1904754 9.69 MIR221 MIR21
21 positive regulation of activated T cell proliferation GO:0042104 9.69 MIR21 MIR155
22 negative regulation of necroptotic process GO:0060546 9.69 MIR221 MIR214 MIR155
23 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903589 9.68 MIR21 MIR132
24 positive regulation of cardiac muscle hypertrophy GO:0010613 9.68 MIR21 MIR155
25 negative regulation of innate immune response GO:0045824 9.68 MIR21 MIR155
26 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.67 MIR155 MIR148A
27 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.67 MIR214 MIR155
28 positive regulation of axon regeneration GO:0048680 9.67 MIR222 MIR221
29 negative regulation of cell adhesion molecule production GO:0060354 9.67 MIR222 MIR221 MIR155
30 negative regulation of vascular wound healing GO:0061044 9.66 MIR34A MIR155
31 negative regulation of regulatory T cell differentiation GO:0045590 9.66 MIR21 MIR155
32 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 9.65 MIR210 MIR21
33 negative regulation of necrotic cell death GO:0060547 9.65 MIR223 MIR155
34 positive regulation of connective tissue replacement GO:1905205 9.65 MIR34A MIR214 MIR155
35 negative regulation by host of viral genome replication GO:0044828 9.63 MIR222 MIR221 MIR155
36 positive regulation of vascular smooth muscle cell dedifferentiation GO:1905176 9.61 MIR221 MIR214
37 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.6 MIR222 MIR221
38 positive regulation of Schwann cell migration GO:1900149 9.59 MIR222 MIR221
39 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.57 MIR222 MIR221
40 negative regulation of hematopoietic stem cell proliferation GO:1902034 9.56 MIR222 MIR221
41 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.56 MIR34A MIR223 MIR214 MIR21
42 miRNA mediated inhibition of translation GO:0035278 9.56 MIR299 MIR222 MIR221 MIR210 MIR21 MIR155
43 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.55 MIR222 MIR221 MIR214 MIR21 MIR130A
44 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.54 MIR222 MIR221 MIR155
45 gene silencing by miRNA GO:0035195 9.53 MIR34A MIR335 MIR30A MIR299 MIR223 MIR222
46 negative regulation of interleukin-21 production GO:0032705 9.5 MIR222 MIR221 MIR21

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 9.5 MIR34A MIR30A MIR299 MIR223 MIR222 MIR221
2 mRNA 3'-UTR binding GO:0003730 9.35 MIR34A MIR30A MIR21 MIR154 MIR130A

Sources for Miyoshi Muscular Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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