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MCID: MYS079
MIFTS: 54

Miyoshi Muscular Dystrophy

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Miyoshi Muscular Dystrophy

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MalaCards integrated aliases for Miyoshi Muscular Dystrophy:

Name: Miyoshi Muscular Dystrophy 12 12 6 15
Distal Myopathy 12 74 58 36 29 6 15
Distal Muscular Dystrophy 12 74 58 54
Miyoshi Myopathy 12 44
Dystrophy, Muscular, Miyoshi 39
Distal Myopathies 54
Myopathy, Distal 39

Characteristics:

Orphanet epidemiological data:

58
distal myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (United Kingdom); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Muscle diseases Gastrointestinal diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0070198 DOID:11720
KEGG 36 H00594
NCIt 50 C84675
SNOMED-CT 67 58795000
ICD10 32 G71.09
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C0751336
Orphanet 58 ORPHA599
SNOMED-CT via HPO 68 129565002
UMLS 71 C0751336
Sources

Summaries for Miyoshi Muscular Dystrophy

About this section
KEGG : 36 Distal myopathies (MPD) are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical presentation is characterized by progressive muscular weakness and atrophy beginning in the hands, forearm, lower legs or feet. Currently almost 20 different entities of distal muscular dystrophies have been genetically determined. Half of the genes have been associated with distal phenotypes only, whereas the other genes can manifest also with other than distal phenotypes. Most of the genes code for structural and functional components of the sarcomere. The genes responsible for the pathologically defined category of myofibrillar myopathy are frequently display a distal phenotype.

MalaCards based summary : Miyoshi Muscular Dystrophy, also known as distal myopathy, is related to miyoshi muscular dystrophy 3 and nonaka myopathy. An important gene associated with Miyoshi Muscular Dystrophy is DYSF (Dysferlin), and among its related pathways/superpathways are Amino sugar and nucleotide sugar metabolism and Cardiac muscle contraction. The drugs Glucosamine and Azacitidine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and brain, and related phenotypes are myopathy and Decreased viability

Disease Ontology : 12 A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.

Wikipedia : 74 Distal muscular dystrophy is a group of disorders characterized by onset in the hands or feet. Many... more...

Sources

Related Diseases for Miyoshi Muscular Dystrophy

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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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 212)
# Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 3 33.4 MMD2 DYSF CAPN3 ANO5
2 nonaka myopathy 32.9 TTN MYOT GNE DYSF DMD CAPN3
3 myopathy, distal, 3 32.6 MPD3 ANO5
4 dysferlinopathy 32.4 MYOF DYSF CAPN3
5 tibial muscular dystrophy 32.2 TTN MYOT MYH7 GNE DYSF DMD
6 autosomal dominant distal myopathy 32.2 MYOT MYH7 DMD DES
7 myopathy, myofibrillar, 9, with early respiratory failure 32.0 TTN MYOT MYH7 CAPN3
8 rippling muscle disease 2 31.9 DYSF CAV3
9 myopathy, myofibrillar, 2 31.9 MYOT HSPB8
10 limb-girdle muscular dystrophy 31.3 TTN SGCA MYOT DYSF CAV3 CAPN3
11 foot drop 30.9 TTN MYOT DYSF
12 muscular dystrophy, limb-girdle, autosomal recessive 2 30.8 TTN SGCA MYOT DYSF DMD DES
13 hyaline body myopathy 30.7 TTN MYOT MYH7
14 muscular atrophy 30.6 TTN HSPB8 CAV3 CAPN3
15 dysphagia 30.6 PIK3C2A DES
16 myositis 30.5 TTN PIK3C2A DYSF DMD CAPN3
17 myofibrillar myopathy 30.5 TTN MYOT MYH7 HSPB8 DYSF DMD
18 reducing body myopathy 30.5 TTN DMD DES
19 progressive muscular dystrophy 30.5 SGCA DMD
20 myopathy, myofibrillar, 1 30.4 TTN MYOT DYSF DMD DES CAPN3
21 dilated cardiomyopathy 30.4 TTN SGCA MYOT MYH7 DMD DES
22 atrial standstill 1 30.3 TTN MYOT MYH7 DMD DES
23 respiratory failure 30.3 TTN PIK3C2A MYH7 DMD
24 muscular dystrophy, becker type 30.3 SGCA PIK3C2A DYSF DMD CAPN3
25 limb-girdle muscular dystrophy type 1c 30.3 DYSF CAV3
26 cytoplasmic body myopathy 30.3 DMD DES
27 atrioventricular block 30.3 TTN PIK3C2A MYH7 DES
28 hypertrophic cardiomyopathy 30.2 TTN SGCA PIK3C2A MYH7 DMD DES
29 central core disease of muscle 30.2 MYOT DES
30 muscular dystrophy, limb-girdle, autosomal dominant 1 30.1 MYOT HSPB8 DYSF CAV3 CAPN3
31 muscular dystrophy, limb-girdle, autosomal recessive 7 30.1 TTN MYOT DYSF DMD CAPN3
32 myopathy, myofibrillar, 3 30.1 TTN MYOT DYSF DMD CAPN3
33 restrictive cardiomyopathy 30.1 TTN MYH7 DMD DES
34 centronuclear myopathy 30.1 TTN DYSF DMD DES CAV3
35 batten-turner congenital myopathy 30.1 TTN MYH7 DYSF DMD DES
36 creatine phosphokinase, elevated serum 30.0 PIK3C2A DMD CAV3 CAPN3 ANO5
37 malignant hyperthermia 30.0 PIK3C2A MYH7 DYSF DMD CAV3
38 cardiomyopathy, familial hypertrophic, 1 30.0 TTN MYH7 DES CAV3
39 rigid spine muscular dystrophy 1 30.0 TTN MYOT MYH7 DYSF DMD CAPN3
40 scapuloperoneal myopathy 30.0 MYOT MYH7
41 autosomal recessive limb-girdle muscular dystrophy type 2b 29.9 TRIM72 SGCA MYOT MYOF FER1L6 FER1L5
42 autosomal recessive limb-girdle muscular dystrophy type 2j 29.9 TTN SGCA MYOT DYSF CAV3 CAPN3
43 arrhythmogenic right ventricular cardiomyopathy 29.9 TTN SGCA MYH7 DMD DES
44 facioscapulohumeral muscular dystrophy 1 29.9 SGCA MYOT MIR331 DYSF DMD CAV3
45 muscular dystrophy, congenital, lmna-related 29.8 TTN MYOT MYH7 DYSF DMD CAV3
46 neuromuscular disease 29.7 TTN SGCA MYOT MYH7 HSPB8 GNE
47 emery-dreifuss muscular dystrophy 29.7 TTN SGCA MYOT DYSF DMD DES
48 muscular dystrophy, duchenne type 29.6 TTN SGCA PIK3C2A MIR331 DYSF DMD
49 myopathy 29.5 TTN SGCA PIK3C2A MYOT MYOF MYH7
50 isolated elevated serum creatine phosphokinase levels 29.5 TTN SGCA PIK3C2A MYOT GNE DYSF

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



Diseases related to Miyoshi Muscular Dystrophy
Sources

Symptoms & Phenotypes for Miyoshi Muscular Dystrophy

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Human phenotypes related to Miyoshi Muscular Dystrophy:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.72 PIK3C2A
2 Decreased viability GR00055-A-2 9.72 PIK3C2A
3 Decreased viability GR00055-A-3 9.72 PIK3C2A
4 Decreased viability GR00107-A-1 9.72 HSPB8
5 Decreased viability GR00154-A 9.72 GNE
6 Decreased viability GR00221-A-1 9.72 GNE HSPB8 PIK3C2A
7 Decreased viability GR00221-A-2 9.72 PIK3C2A TTN
8 Decreased viability GR00221-A-3 9.72 GNE
9 Decreased viability GR00221-A-4 9.72 DYSF GNE HSPB8 PIK3C2A TTN
10 Decreased viability GR00240-S-1 9.72 PIK3C2A
11 Decreased viability GR00249-S 9.72 PIK3C2A
12 Decreased viability GR00301-A 9.72 DYSF HSPB8
13 Decreased viability GR00342-S-1 9.72 PIK3C2A TTN
14 Decreased viability GR00342-S-2 9.72 PIK3C2A
15 Decreased viability GR00342-S-3 9.72 PIK3C2A TTN

MGI Mouse Phenotypes related to Miyoshi Muscular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 ANO5 CAPN3 CAV3 DES DMD GNE
2 muscle MP:0005369 9.44 ANO5 CAPN3 CAV3 DES DMD DYSF
Sources

Drugs & Therapeutics for Miyoshi Muscular Dystrophy

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glucosamine Approved, Investigational Phase 3 3416-24-8 439213
2
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
3 Immunologic Factors Phase 1
4 Immunoglobulins Phase 1
5 gamma-Globulins Phase 1
6 Antibodies Phase 1
7 Immunoglobulins, Intravenous Phase 1
8 Rho(D) Immune Globulin Phase 1

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Sialic Acid Extended-Release Tablets in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT02377921 Phase 3 aceneuramic acid extended-release (Ace-ER);Placebo
2 Efficacy Confirmation Study of NPC-09 Not yet recruiting NCT04671472 Phase 3 NPC-09;NPC-09 placebo
3 Phase 3B Open-Label Extension Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Terminated NCT02736188 Phase 3 Aceneuramic Acid Extended-Release Tablets
4 An Open-label Phase 2 Extension Study to Evaluate the Long Term Safety and Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01830972 Phase 2 SA-ER 500 mg;SA-IR 500 mg
5 A Phase 2 Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01517880 Phase 2 Sialic Acid Extended Release (SA-ER);Placebo
6 An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Completed NCT02346461 Phase 2 ManNAc;ManNAc
7 A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Efficacy of ManNAc in Subjects With GNE Myopathy Not yet recruiting NCT04231266 Phase 2 ManNAc
8 A Phase 2 Open-label Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets in GNE Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy (HIBM)) Patients With Severe Ambulatory Impairment Terminated NCT02731690 Phase 2 Aceneuramic Acid Extended-Release
9 Pharmacokinetic Study on N-acetylneuraminic Acid in Patients With Distal Myopathy With Rimmed Vacuoles (DMRV) - Hereditary Inclusion Body Myopathy (hIBM) Completed NCT01236898 Phase 1 NPC-09
10 A Phase 1 Study to Evaluate the Safety and Pharmacokinetics of Single and Repeat Doses of Sialic Acid Extended Release (SA-ER) Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01359319 Phase 1 Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tables;Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tablets;Sialic Acid Extended Release (SA-ER) Tablets
11 Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy Completed NCT00195637 Phase 1 Immune Globulin
12 A Phase 1 Randomized, Placebo-Controlled, Double-Blind, Escalating Single-Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01634750 Phase 1 ManNAc
13 GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01784679
14 A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases Recruiting NCT01417533
15 Family Studies in Neuromuscular Disorders Recruiting NCT01459302
16 International GNE Myopathy Patient Registry (GNE001) Recruiting NCT04009226

Search NIH Clinical Center for Miyoshi Muscular Dystrophy

Cochrane evidence based reviews: miyoshi myopathy

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Genetic Tests for Miyoshi Muscular Dystrophy

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Genetic tests related to Miyoshi Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Distal Myopathy 29
Sources

Anatomical Context for Miyoshi Muscular Dystrophy

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MalaCards organs/tissues related to Miyoshi Muscular Dystrophy:

40
Skeletal Muscle, Heart, Brain, Skin, Myeloid
Sources

Publications for Miyoshi Muscular Dystrophy

About this section

Articles related to Miyoshi Muscular Dystrophy:

(show top 50) (show all 605)
# Title Authors PMID Year
1
Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family. 54 61
20346669 2010
2
Caveolinopathies: from the biology of caveolin-3 to human diseases. 61 54
19584897 2010
3
[Development of therapy for distal myopathy with rimmed vacuoles]. 54 61
20030229 2009
4
Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. 54 61
19716701 2009
5
Novel DYSF mutations in Thai patients with distal myopathy. 61 54
19493611 2009
6
Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy. 54 61
19618441 2009
7
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient. 54 61
19458539 2009
8
Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 61 54
18930476 2009
9
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 54 61
18948003 2008
10
[Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy]. 61 54
19048948 2008
11
Dysferlinopathy: a clinical and histopathological study of 28 patients from India. 54 61
18974568 2008
12
[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]. 54 61
18555875 2008
13
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles). 54 61
19845164 2008
14
Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy? 61 54
18646567 2007
15
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. 54 61
17704511 2007
16
Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation. 54 61
17383184 2007
17
Zaspopathy in a large classic late-onset distal myopathy family. 54 61
17337483 2007
18
Hereditary myosin myopathies. 61 54
17434305 2007
19
Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family. 61 54
17098358 2007
20
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. 61 54
17164266 2007
21
Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand. 61 54
16810679 2006
22
Desmin mutations in a St. Petersburg cohort of cardiomyopathies. 54 61
17626518 2006
23
Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. 61 54
16891820 2006
24
Myotilinopathy in a family with late onset myopathy. 61 54
16793270 2006
25
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. 61 54
16730439 2006
26
Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). 54 61
16674563 2006
27
Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. 61 54
16103042 2006
28
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles. 54 61
16372135 2006
29
Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes. 61 54
16116644 2005
30
[Molecular pathomechanism of distal myopathy with rimmed vacuoles]. 61 54
16447769 2005
31
Molecular pathomechanism of distal myopathy with rimmed vacuoles. 54 61
16550921 2005
32
Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy. 61 54
15834044 2005
33
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. 54 61
15728284 2005
34
Two novel CAV3 gene mutations in Japanese families. 61 54
15564037 2004
35
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 61 54
15322983 2004
36
Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy. 61 54
15477515 2004
37
Phenotypic variability associated with Arg26Gln mutation in caveolin3. 61 54
15318349 2004
38
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. 54 61
15136692 2004
39
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. 54 61
14707127 2004
40
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. 54 61
14981167 2004
41
A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins. 54 61
14733963 2004
42
A CAV3 microdeletion differentially affects skeletal muscle and myocardium. 61 54
14663034 2003
43
A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. 61 54
14678807 2003
44
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. 61 54
12839838 2003
45
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 61 54
12939441 2003
46
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. 54 61
12913203 2003
47
Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency. 61 54
12734659 2003
48
Consequences of a novel caveolin-3 mutation in a large German family. 61 54
12557291 2003
49
Muscle pathology in dysferlin deficiency. 61 54
12445162 2002
50
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. 54 61
12177386 2002
Sources

Variations for Miyoshi Muscular Dystrophy

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ClinVar genetic disease variations for Miyoshi Muscular Dystrophy:

6 (show top 50) (show all 207)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HSPB8 NM_014365.2(HSPB8):c.520_533del (p.Tyr174fs) Deletion Likely pathogenic 584450 rs1565930588 12:119631592-119631605 12:119193787-119193800
2 DYSF NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val) SNV Uncertain significance 336955 rs201515915 2:71778828-71778828 2:71551698-71551698
3 DYSF NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) SNV Uncertain significance 290257 rs202123283 2:71788922-71788922 2:71561792-71561792
4 DYSF NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) SNV Uncertain significance 285741 rs149768871 2:71886032-71886032 2:71658902-71658902
5 DYSF NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) SNV Uncertain significance 94283 rs115849497 2:71780278-71780278 2:71553148-71553148
6 DYSF NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) SNV Uncertain significance 283459 rs199879861 2:71762429-71762429 2:71535299-71535299
7 DYSF NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) SNV Uncertain significance 94325 rs7573406 2:71871188-71871188 2:71644058-71644058
8 ANO5 NM_213599.3(ANO5):c.1029C>T (p.Asp343=) SNV Uncertain significance 96677 rs78899595 11:22272302-22272302 11:22250756-22250756
9 ANO5 NM_213599.2(ANO5):c.*811A>G SNV Uncertain significance 304124 rs886048129 11:22302122-22302122 11:22280576-22280576
10 DYSF NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg) SNV Uncertain significance 288412 rs201890095 2:71908167-71908167 2:71681037-71681037
11 DYSF NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile) SNV Uncertain significance 336964 rs770883682 2:71797804-71797804 2:71570674-71570674
12 ANO5 NM_213599.2(ANO5):c.*2869A>G SNV Uncertain significance 304156 rs115249135 11:22304180-22304180 11:22282634-22282634
13 DYSF NM_001130987.2(DYSF):c.5785-8C>T SNV Uncertain significance 291071 rs201191038 2:71901319-71901319 2:71674189-71674189
14 ANO5 NM_213599.2(ANO5):c.2317A>G (p.Met773Val) SNV Uncertain significance 304109 rs751028884 11:22296196-22296196 11:22274650-22274650
15 DYSF NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) SNV Uncertain significance 287813 rs145412880 2:71838678-71838678 2:71611548-71611548
16 DYSF NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) SNV Uncertain significance 197967 rs143762717 2:71909660-71909660 2:71682530-71682530
17 ANO5 NM_213599.2(ANO5):c.*279G>A SNV Uncertain significance 304119 rs72982058 11:22301590-22301590 11:22280044-22280044
18 DYSF NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) SNV Uncertain significance 94299 rs398123778 2:71797757-71797757 2:71570627-71570627
19 DYSF NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) SNV Uncertain significance 94323 rs145690047 2:71840504-71840504 2:71613374-71613374
20 DYSF NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) SNV Uncertain significance 94322 rs139654844 2:71739022-71739022 2:71511892-71511892
21 DYSF NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) SNV Uncertain significance 94328 rs62145939 2:71886100-71886100 2:71658970-71658970
22 DYSF NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) SNV Uncertain significance 336956 rs546679270 2:71778843-71778843 2:71551713-71551713
23 DYSF NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) SNV Uncertain significance 94307 rs79899601 2:71825707-71825707 2:71598577-71598577
24 DYSF NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) SNV Uncertain significance 94353 rs150834671 2:71909742-71909742 2:71682612-71682612
25 DYSF NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) SNV Uncertain significance 167018 rs116204385 2:71788999-71788999 2:71561869-71561869
26 DYSF NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) SNV Uncertain significance 94329 rs185596534 2:71886111-71886111 2:71658981-71658981
27 DYSF NM_001130987.2(DYSF):c.4464+7T>C SNV Uncertain significance 336972 rs369949055 2:71840547-71840547 2:71613417-71613417
28 DYSF NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile) SNV Uncertain significance 336975 rs886056283 2:71895954-71895954 2:71668824-71668824
29 ANO5 NM_213599.2(ANO5):c.88-14C>T SNV Uncertain significance 304096 rs770721931 11:22232796-22232796 11:22211250-22211250
30 DYSF NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) SNV Uncertain significance 283977 rs35297901 2:71791255-71791255 2:71564125-71564125
31 ANO5 NM_213599.2(ANO5):c.-65G>C SNV Uncertain significance 304094 rs886048116 11:22214974-22214974 11:22193428-22193428
32 DYSF NM_001130987.2(DYSF):c.1503G>A (p.Leu501=) SNV Uncertain significance 336952 rs886056280 2:71766296-71766296 2:71539166-71539166
33 DYSF NM_001130987.2(DYSF):c.*179G>A SNV Uncertain significance 336982 rs886056284 2:71913801-71913801 2:71686671-71686671
34 DYSF NM_001130987.2(DYSF):c.2409+14G>A SNV Uncertain significance 336959 rs141170955 2:71789088-71789088 2:71561958-71561958
35 DYSF NM_001130987.2(DYSF):c.3927+10G>A SNV Uncertain significance 336968 rs886056282 2:71828668-71828668 2:71601538-71601538
36 DYSF NM_001130987.2(DYSF):c.558A>G (p.Thr186=) SNV Uncertain significance 336944 rs781732915 2:71740850-71740850 2:71513720-71513720
37 DYSF NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) SNV Uncertain significance 336958 rs769518034 2:71780251-71780251 2:71553121-71553121
38 ANO5 NM_213599.2(ANO5):c.*2784G>A SNV Uncertain significance 304155 rs886048140 11:22304095-22304095 11:22282549-22282549
39 ANO5 NM_213599.2(ANO5):c.*3473T>G SNV Uncertain significance 304171 rs886048147 11:22304784-22304784 11:22283238-22283238
40 ANO5 NM_213599.2(ANO5):c.1042G>A (p.Gly348Ser) SNV Uncertain significance 281308 rs139344099 11:22272315-22272315 11:22250769-22250769
41 ANO5 NM_213599.2(ANO5):c.*220G>A SNV Uncertain significance 304118 rs886048128 11:22301531-22301531 11:22279985-22279985
42 DYSF NM_001130987.2(DYSF):c.*78C>T SNV Uncertain significance 336980 rs367543759 2:71913700-71913700 2:71686570-71686570
43 DYSF NM_001130987.2(DYSF):c.3898-4C>G SNV Uncertain significance 291062 rs555206040 2:71828625-71828625 2:71601495-71601495
44 DYSF NM_001130987.2(DYSF):c.*75C>T SNV Uncertain significance 336979 rs374833260 2:71913697-71913697 2:71686567-71686567
45 ANO5 NM_213599.2(ANO5):c.*3206A>G SNV Uncertain significance 304165 rs886048143 11:22304517-22304517 11:22282971-22282971
46 DYSF NM_001130987.2(DYSF):c.5643-12A>G SNV Uncertain significance 336976 rs375507062 2:71896723-71896723 2:71669593-71669593
47 DYSF NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu) SNV Uncertain significance 336967 rs761916273 2:71827926-71827926 2:71600796-71600796
48 ANO5 NM_213599.2(ANO5):c.*1647T>C SNV Uncertain significance 304135 rs886048133 11:22302958-22302958 11:22281412-22281412
49 ANO5 NM_213599.2(ANO5):c.2235+4A>C SNV Uncertain significance 286474 rs372056234 11:22294539-22294539 11:22272993-22272993
50 DYSF NM_001130987.2(DYSF):c.1807-10C>T SNV Uncertain significance 336957 rs749361351 2:71780131-71780131 2:71553001-71553001
Sources

Expression for Miyoshi Muscular Dystrophy

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

Pathways for Miyoshi Muscular Dystrophy

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Pathways related to Miyoshi Muscular Dystrophy according to KEGG:

36
# Name Kegg Source Accession
1 Amino sugar and nucleotide sugar metabolism hsa00520
2 Cardiac muscle contraction hsa04260
3 Tight junction hsa04530
4 Protein processing in endoplasmic reticulum hsa04141

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

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 65
Show member pathways
 12.16 TTN TRIM72 DYSF DMD DES CAV3
2
Striated Muscle Contraction 65 1
11.29 TTN DMD DES
3
Dilated cardiomyopathy 36
Show member pathways
 11.29 TTN SGCA MYH7 DMD DES
4
Smooth Muscle Contraction 65
10.89 TRIM72 DYSF CAV3
Sources

GO Terms for Miyoshi Muscular Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.18 TTN TRIM72 SGCA PIK3C2A MYOT MYOF
2 myofibril GO:0030016 9.5 MYH7 DMD CAPN3
3 Z disc GO:0030018 9.5 TTN MYOT MYH7 DMD DES CAV3
4 T-tubule GO:0030315 9.46 FER1L5 DYSF CAV3 CAPN3
5 dystrophin-associated glycoprotein complex GO:0016010 9.43 SGCA DMD CAV3
6 sarcolemma GO:0042383 9.17 TRIM72 SGCA MYOT DYSF DMD DES

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.72 TRIM72 SGCA DMD CAV3 CAPN3
2 membrane fusion GO:0061025 9.7 MYOF FER1L5 DYSF
3 cardiac muscle contraction GO:0060048 9.69 TTN MYH7 DMD
4 muscle filament sliding GO:0030049 9.67 TTN MYH7 DMD DES
5 regulation of heart rate GO:0002027 9.65 MYH7 DMD CAV3
6 muscle cell cellular homeostasis GO:0046716 9.61 DMD CAV3 CAPN3
7 negative regulation of phagocytosis GO:0050765 9.58 FER1L5 DYSF
8 striated muscle contraction GO:0006941 9.58 TTN MYH7
9 myoblast fusion GO:0007520 9.58 MYOF FER1L5 CAV3
10 macrophage activation involved in immune response GO:0002281 9.57 FER1L5 DYSF
11 response to denervation involved in regulation of muscle adaptation GO:0014894 9.56 SGCA DMD
12 T-tubule organization GO:0033292 9.56 MYOF FER1L5 DYSF CAV3
13 nucleus localization GO:0051647 9.55 DMD CAV3
14 plasma membrane organization GO:0007009 9.55 MYOF FER1L6 FER1L5 DYSF CAV3
15 detection of muscle stretch GO:0035995 9.54 TTN CAV3
16 regulation of skeletal muscle contraction GO:0014819 9.49 DMD CAV3
17 monocyte activation involved in immune response GO:0002280 9.46 FER1L5 DYSF
18 plasma membrane repair GO:0001778 9.35 TRIM72 MYOF FER1L5 DYSF CAV3
19 muscle contraction GO:0006936 9.28 TTN TRIM72 SGCA MYOT MYOF MYH7

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

# Name GO ID Score Top Affiliating Genes
1 nitric-oxide synthase binding GO:0050998 8.96 DMD CAV3
2 structural constituent of muscle GO:0008307 8.92 TTN MYOT DMD CAPN3
Sources

Sources for Miyoshi Muscular Dystrophy

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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
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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