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 74 29 13 6 15
Miyoshi Myopathy 57 53 25 59 74 37 29 55 6 72
Mmd1 57 12 74
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 74
Distal Muscular Dystrophy, Miyoshi Type 25
Dystrophy, Muscular, Miyoshi Type 1 40
Miyoshi Muscular Dystrophy 25
Miyoshi Myopathy 1 12
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:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course adult onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070199
KEGG 37 H01965
MeSH 44 D049310
MESH via Orphanet 45 C537480
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 73 C1850808
Orphanet 59 ORPHA45448
UMLS 72 C1850808

Summaries for Miyoshi Muscular Dystrophy 1

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. 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 inclusion body myositis and thyroid cancer, nonmedullary, 1, and has symptoms including decreased grip strength An important gene associated with Miyoshi Muscular Dystrophy 1 is DYSF (Dysferlin). Affiliated tissues include skeletal muscle, heart and brain, and related phenotypes are pelvic girdle muscle weakness and difficulty walking

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

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.

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)

KEGG : 37
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 : 74 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 710)
# Related Disease Score Top Affiliating Genes
1 inclusion body myositis 30.2 MIR155 MIR146B
2 thyroid cancer, nonmedullary, 1 29.9 MIR155 MIR146B
3 muscular dystrophy, limb-girdle, autosomal recessive 1 29.6 MIR154 MIR148A
4 pancreatic ductal adenocarcinoma 29.5 MIR155 MIR148A
5 leukemia, acute lymphoblastic 29.3 MIR155 MIR130A
6 polymyositis 29.0 MIR155 MIR146B MIR132 MIR130A
7 glioblastoma multiforme 28.7 MIR155 MIR132
8 squamous cell carcinoma, head and neck 28.5 MIR155 MIR148A MIR146B
9 lung cancer 28.2 MIR155 MIR148A MIR146B MIR130A
10 hepatocellular carcinoma 28.2 MIR155 MIR148A MIR132 MIR130A
11 muscular dystrophy, duchenne type 28.1 MIR154 MIR148A MIR146B MIR130A
12 dermatomyositis 27.1 MIR155 MIR154 MIR146B MIR132 MIR130A
13 multiple mitochondrial dysfunctions syndrome 12.2
14 myeloma, multiple 12.0
15 miyoshi muscular dystrophy 12.0
16 miyoshi muscular dystrophy 3 11.9
17 multiminicore disease 11.9
18 miyoshi muscular dystrophy 2 11.9
19 dysferlinopathy 11.8
20 minicore myopathy with external ophthalmoplegia 11.7
21 purpura 11.5
22 malignant pleural mesothelioma 11.4
23 rigid spine muscular dystrophy 1 11.4
24 multiple mitochondrial dysfunctions syndrome 1 11.4
25 bronchiolo-alveolar adenocarcinoma 11.3
26 syringoma 11.3
27 cystic kidney disease 11.3
28 medial medullary syndrome 11.3
29 mitral valve prolapse 1 11.2
30 mesomelia-synostoses syndrome 11.2
31 orthostatic intolerance 11.2
32 microphthalmia, isolated 6 11.2
33 megalocornea 11.1
34 mitral valve prolapse 2 11.1
35 sessile serrated polyposis cancer syndrome 11.1
36 choroid disease 11.1
37 spinal cord disease 11.1
38 microinvasive cervical squamous cell carcinoma 11.1
39 heterophyiasis 11.1
40 x-linked lissencephaly with abnormal genitalia 11.1
41 apnea, obstructive sleep 11.1
42 acyl-coa dehydrogenase, short-chain, deficiency of 11.1
43 histidinemia 11.1
44 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.1
45 holocarboxylase synthetase deficiency 11.1
46 transcobalamin ii deficiency 11.1
47 methylmalonic aciduria and homocystinuria, cblc type 11.1
48 noonan syndrome 10 11.1
49 3-methylcrotonyl-coa carboxylase deficiency 11.1
50 mixed sleep apnea 11.1

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:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pelvic girdle muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003749
2 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
3 proximal amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007126
4 difficulty climbing stairs 59 32 frequent (33%) Frequent (79-30%) HP:0003551
5 exercise-induced myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003738
6 tibialis muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0008963
7 quadriceps muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003731
8 shoulder girdle muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003547
9 difficulty standing 59 32 frequent (33%) Frequent (79-30%) HP:0003698
10 distal upper limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007149
11 tibialis atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0011399
12 toe walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0040083
13 foot dorsiflexor weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0009027
14 calf muscle hypertrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008981
15 decreased/absent ankle reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0200101
16 loss of ability to walk 59 32 occasional (7.5%) Occasional (29-5%) HP:0006957
17 triceps weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0031108
18 deposits immunoreactive to beta-amyloid protein 32 occasional (7.5%) HP:0003791
19 abnormality of the cardiovascular system 59 Excluded (0%)
20 respiratory insufficiency due to muscle weakness 59 Excluded (0%)
21 myalgia 59 Occasional (29-5%)
22 proximal muscle weakness in lower limbs 59 Frequent (79-30%)
23 muscle stiffness 59 Excluded (0%)
24 muscular dystrophy 32 HP:0003560
25 distal amyotrophy 32 HP:0003693
26 lower limb muscle weakness 32 HP:0007340
27 muscle fibrillation 32 HP:0010546
28 distal lower limb muscle weakness 59 Frequent (79-30%)
29 distal muscle weakness 32 HP:0002460
30 intrinsic hand muscle atrophy 59 Excluded (0%)
31 distal lower limb amyotrophy 59 Frequent (79-30%)
32 decreased achilles reflex 32 HP:0009072
33 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 International Clinical Outcome Study for Dysferlinopathy Unknown status NCT01676077
2 Family Studies in 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 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, Heart, Brain, Monocytes

Publications for Miyoshi Muscular Dystrophy 1

Articles related to Miyoshi Muscular Dystrophy 1:

(show top 50) (show all 213)
# Title Authors PMID Year
1
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. 9 38 8 71
9731526 1998
2
Dysferlin-deficient muscular dystrophy features amyloidosis. 9 8 71
18306167 2008
3
Symptomatic dysferlin gene mutation carriers: characterization of two cases. 38 8 71
17287450 2007
4
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. 38 8 71
8808603 1996
5
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. 9 38 71
16087766 2005
6
Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. 9 38 71
12796534 2003
7
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. 38 8
21522182 2011
8
Dysferlinopathy 38 71
20301480 2004
9
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. 38 71
11468312 2001
10
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. 38 71
11134403 2000
11
Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. 38 8
10545047 1999
12
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). 38 71
10196377 1999
13
Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes. 38 8
10737122 1998
14
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. 38 71
9009996 1996
15
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. 38 8
7723968 1995
16
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. 71
25313375 2014
17
Distinctive patterns of microRNA expression in primary muscular disorders. 38 88
17942673 2007
18
Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy. 8
15477515 2004
19
Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus. 8
12836053 2003
20
The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. 8
10469840 1999
21
Autosomal recessive distal muscular dystrophy: normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers. 8
7836950 1994
22
Autosomal recessive distal myopathy. 8
3350979 1988
23
Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. 8
3942856 1986
24
A new type of distal myopathy in two brothers. 8
6172565 1981
25
[Distal myopathy--evaluation of 4 cases in 2 families]. 8
4798256 1973
26
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 9 38
20096397 2010
27
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. 9 38
19953532 2010
28
Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. 9 38
19154541 2009
29
[Amyloidosis in muscular dystrophy]. 9 38
19326120 2009
30
Analysis of the DYSF mutational spectrum in a large cohort of patients. 9 38
18853459 2009
31
Challenges for the genetic screening in dysferlin deficiency--report of an instructive case and review of the literature. 9 38
18808059 2008
32
Late onset in dysferlinopathy widens the clinical spectrum. 9 38
18396043 2008
33
Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. 9 38
18276788 2008
34
Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene. 9 38
17825554 2007
35
A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene. 9 38
17868276 2007
36
[Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases]. 9 38
17785089 2007
37
Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II). 9 38
17331981 2007
38
Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family. 9 38
18294055 2007
39
Histological and immunohistological changes of the skeletal muscles in older SJL/J mice. 9 38
17108690 2007
40
The muscle protein dysferlin accumulates in the Alzheimer brain. 9 38
17024495 2006
41
Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions. 9 38
16996541 2006
42
Calf-head sign in Miyoshi myopathy. 9 38
17030657 2006
43
Identification and characterization of a novel human dysferlin transcript: dysferlin_v1. 9 38
16896923 2006
44
Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. 9 38
16891820 2006
45
Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy. 9 38
16023782 2006
46
Expression of myoferlin in skeletal muscles of patients with dysferlinopathy. 9 38
16707852 2006
47
Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. 9 38
16705711 2006
48
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. 9 38
16100712 2005
49
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. 9 38
16010686 2005
50
Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy. 9 38
15515206 2004

Variations for Miyoshi Muscular Dystrophy 1

ClinVar genetic disease variations for Miyoshi Muscular Dystrophy 1:

6 (show top 50) (show all 223)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DYSF NM_003494.4(DYSF): c.1813C> T (p.Gln605Ter) single nucleotide variant Pathogenic rs121908953 2:71780201-71780201 2:71553071-71553071
2 DYSF NM_003494.4(DYSF): c.2372C> G (p.Pro791Arg) single nucleotide variant Pathogenic rs121908956 2:71791204-71791204 2:71564074-71564074
3 DYSF NM_003494.4(DYSF): c.200_201delinsAT (p.Val67Asp) indel Pathogenic rs121908957 2:71709064-71709065 2:71481934-71481935
4 DYSF NM_003494.4(DYSF): c.2997G> T (p.Trp999Cys) single nucleotide variant Pathogenic rs28937581 2:71797430-71797430 2:71570300-71570300
5 DYSF NM_003494.4(DYSF): c.5713C> T (p.Arg1905Ter) single nucleotide variant Pathogenic rs121908959 2:71901372-71901372 2:71674242-71674242
6 DYSF NM_003494.4(DYSF): c.895G> T (p.Gly299Trp) single nucleotide variant Pathogenic rs121908963 2:71744158-71744158 2:71517028-71517028
7 DYSF NM_003494.3(DYSF): c.2779del (p.Ala927Leufs) deletion Pathogenic rs727503909 2:71795437-71795437 2:71568307-71568307
8 DYSF NM_003494.4(DYSF): c.3444_3445delinsAA (p.Tyr1148_Gly1149delinsTer) indel Pathogenic rs398123781 2:71817342-71817343 2:71590212-71590213
9 DYSF NM_003494.4(DYSF): c.1834C> T (p.Gln612Ter) single nucleotide variant Pathogenic rs746873768 2:71780222-71780222 2:71553092-71553092
10 DYSF NM_003494.4(DYSF): c.1129C> T (p.Arg377Ter) single nucleotide variant Pathogenic/Likely pathogenic rs758180890 2:71753425-71753425 2:71526295-71526295
11 DYSF NM_003494.4(DYSF): c.2875C> T (p.Arg959Trp) single nucleotide variant Pathogenic/Likely pathogenic rs202218890 2:71797014-71797014 2:71569884-71569884
12 DYSF NM_003494.4(DYSF): c.2643+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs140108514 2:71795213-71795213 2:71568083-71568083
13 DYSF NM_003494.4(DYSF): c.1053+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123763 2:71748035-71748035 2:71520905-71520905
14 DYSF NM_003494.4(DYSF): c.2974T> C (p.Trp992Arg) single nucleotide variant Pathogenic/Likely pathogenic rs750028300 2:71797407-71797407 2:71570277-71570277
15 DYSF NM_003494.4(DYSF): c.6124C> T (p.Arg2042Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908955 2:71909727-71909727 2:71682597-71682597
16 DYSF NM_003494.4(DYSF): c.3137G> A (p.Arg1046His) single nucleotide variant Pathogenic/Likely pathogenic rs121908958 2:71797834-71797834 2:71570704-71570704
17 DYSF NM_003494.4(DYSF): c.5594G> A (p.Gly1865Asp) single nucleotide variant Likely pathogenic 2:71896803-71896803 2:71669673-71669673
18 DYSF NM_003494.4(DYSF): c.6057G> A (p.Arg2019=) single nucleotide variant Conflicting interpretations of pathogenicity rs143762717 2:71909660-71909660 2:71682530-71682530
19 ANO5 NM_213599.2(ANO5): c.2139C> T (p.Thr713=) single nucleotide variant Conflicting interpretations of pathogenicity rs767479331 11:22294439-22294439 11:22272893-22272893
20 DYSF NM_003494.4(DYSF): c.1555G> A (p.Gly519Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908962 2:71778203-71778203 2:71551073-71551073
21 DYSF NM_003494.4(DYSF): c.3060G> A (p.Pro1020=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123778 2:71797757-71797757 2:71570627-71570627
22 DYSF NM_003494.4(DYSF): c.1890G> A (p.Pro630=) single nucleotide variant Conflicting interpretations of pathogenicity rs115849497 2:71780278-71780278 2:71553148-71553148
23 DYSF NM_003494.4(DYSF): c.2163-11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200853014 2:71788871-71788871 2:71561741-71561741
24 DYSF NM_003494.4(DYSF): c.3534C> T (p.Ile1178=) single nucleotide variant Conflicting interpretations of pathogenicity rs79899601 2:71825707-71825707 2:71598577-71598577
25 DYSF NM_003494.4(DYSF): c.4374C> T (p.Ile1458=) single nucleotide variant Conflicting interpretations of pathogenicity rs145690047 2:71840504-71840504 2:71613374-71613374
26 DYSF NM_003494.4(DYSF): c.4504C> T (p.Leu1502=) single nucleotide variant Conflicting interpretations of pathogenicity rs7573406 2:71871188-71871188 2:71644058-71644058
27 DYSF NM_003494.4(DYSF): c.4731G> A (p.Glu1577=) single nucleotide variant Conflicting interpretations of pathogenicity rs62145939 2:71886100-71886100 2:71658970-71658970
28 DYSF NM_003494.4(DYSF): c.4742G> A (p.Arg1581His) single nucleotide variant Conflicting interpretations of pathogenicity rs185596534 2:71886111-71886111 2:71658981-71658981
29 DYSF NM_003494.4(DYSF): c.1215C> T (p.Ile405=) single nucleotide variant Conflicting interpretations of pathogenicity rs148697028 2:71755462-71755462 2:71528332-71528332
30 ANO5 NM_213599.2(ANO5): c.720G> T (p.Leu240=) single nucleotide variant Conflicting interpretations of pathogenicity rs147121216 11:22257780-22257780 11:22236234-22236234
31 DYSF NM_003494.4(DYSF): c.3057C> T (p.Pro1019=) single nucleotide variant Conflicting interpretations of pathogenicity rs143475751 2:71797754-71797754 2:71570624-71570624
32 DYSF NM_003494.4(DYSF): c.1351A> G (p.Met451Val) single nucleotide variant Conflicting interpretations of pathogenicity rs141818764 2:71762217-71762217 2:71535087-71535087
33 DYSF NM_003494.4(DYSF): c.4443C> T (p.Phe1481=) single nucleotide variant Conflicting interpretations of pathogenicity rs544993852 2:71871127-71871127 2:71643997-71643997
34 DYSF NM_003494.4(DYSF): c.2948A> C (p.Lys983Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs34061568 2:71797381-71797381 2:71570251-71570251
35 DYSF NM_003494.4(DYSF): c.2926-15C> T single nucleotide variant Conflicting interpretations of pathogenicity rs148732505 2:71797344-71797344 2:71570214-71570214
36 DYSF NM_003494.4(DYSF): c.3798G> A (p.Pro1266=) single nucleotide variant Conflicting interpretations of pathogenicity rs139983909 2:71827927-71827927 2:71600797-71600797
37 ANO5 NM_213599.2(ANO5): c.2688C> G (p.Ala896=) single nucleotide variant Conflicting interpretations of pathogenicity rs377549896 11:22301257-22301257 11:22279711-22279711
38 ANO5 NM_213599.2(ANO5): c.1029C> T (p.Asp343=) single nucleotide variant Conflicting interpretations of pathogenicity rs78899595 11:22272302-22272302 11:22250756-22250756
39 ANO5 NM_213599.2(ANO5): c.2259A> G (p.Ser753=) single nucleotide variant Conflicting interpretations of pathogenicity rs61746201 11:22296138-22296138 11:22274592-22274592
40 DYSF NM_003494.4(DYSF): c.1284+6G> C single nucleotide variant Conflicting interpretations of pathogenicity rs75796187 2:71755537-71755537 2:71528407-71528407
41 DYSF NM_003494.4(DYSF): c.2280C> T (p.Leu760=) single nucleotide variant Conflicting interpretations of pathogenicity rs116204385 2:71788999-71788999 2:71561869-71561869
42 DYSF NM_003494.4(DYSF): c.1966A> G (p.Lys656Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139754493 2:71780972-71780972 2:71553842-71553842
43 DYSF NM_003494.4(DYSF): c.202G> C (p.Val68Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs114986640 2:71709066-71709066 2:71481936-71481936
44 ANO5 NM_213599.2(ANO5): c.369G> A (p.Ser123=) single nucleotide variant Conflicting interpretations of pathogenicity rs199888040 11:22248853-22248853 11:22227307-22227307
45 DYSF NM_003494.4(DYSF): c.5026G> T (p.Ala1676Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141137410 2:71891537-71891537 2:71664407-71664407
46 DYSF NM_003494.4(DYSF): c.4089C> T (p.Gly1363=) single nucleotide variant Conflicting interpretations of pathogenicity rs145412880 2:71838678-71838678 2:71611548-71611548
47 DYSF NM_003494.4(DYSF): c.1053T> G (p.Pro351=) single nucleotide variant Conflicting interpretations of pathogenicity rs199955501 2:71748034-71748034 2:71520904-71520904
48 DYSF NM_003494.4(DYSF): c.2203C> A (p.His735Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs202123283 2:71788922-71788922 2:71561792-71561792
49 DYSF NM_003494.4(DYSF): c.3844-4C> G single nucleotide variant Conflicting interpretations of pathogenicity rs555206040 2:71828625-71828625 2:71601495-71601495
50 DYSF NM_003494.4(DYSF): c.3973A> G (p.Ile1325Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145401010 2:71838444-71838444 2:71611314-71611314

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

74 (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

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 8.92 MIR155 MIR148A MIR132 MIR130A

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.54 MIR155 MIR132 DYSF
2 positive regulation of angiogenesis GO:0045766 9.46 MIR132 MIR130A
3 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.43 MIR155 MIR146B
4 negative regulation of blood vessel endothelial cell migration GO:0043537 9.4 MIR155 MIR132
5 cholesterol homeostasis GO:0042632 9.33 MIR155 MIR148A MIR132
6 positive regulation of vascular endothelial cell proliferation GO:1905564 9.32 MIR132 MIR130A
7 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.26 MIR155 MIR148A
8 miRNA mediated inhibition of translation GO:0035278 9.13 MIR155 MIR148A MIR132
9 gene silencing by miRNA GO:0035195 9.1 MIR155 MIR154 MIR148A MIR146B MIR132 MIR130A

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 9.02 MIR155 MIR148A MIR146B MIR132 MIR130A

Sources for Miyoshi Muscular Dystrophy 1

3 CDC
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