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MCID: MYS079
MIFTS: 47

Miyoshi Muscular Dystrophy

Categories: 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 15
Distal Myopathy 12 77 38 30 6
Distal Muscular Dystrophy 12 77 56 15
Miyoshi Myopathy 12 45
Dystrophy, Muscular, Miyoshi 41
Distal Myopathies 56
Myopathy, Distal 41

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Muscle diseases Neuronal diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:0070198 DOID:11720
KEGG 38 H00594
NCIt 51 C84675
SNOMED-CT 69 58795000
ICD10 34 G71.0
SNOMED-CT via HPO 70 129565002
UMLS 74 C0751336
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Summaries for Miyoshi Muscular Dystrophy

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

MalaCards based summary : Miyoshi Muscular Dystrophy, also known as distal myopathy, is related to miyoshi muscular dystrophy 3 and tibial muscular dystrophy. 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, t cells and myeloid, and related phenotypes are myopathy and cardiovascular system

Wikipedia : 77 Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the... more...

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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 115)
# Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 3 34.5 ANO5 DYSF
2 tibial muscular dystrophy 32.8 CAPN3 TTN
3 dysferlinopathy 32.0 CAPN3 DYSF MYOF
4 myopathy, myofibrillar, 2 31.7 DMD MYH7 MYOT
5 myopathy 30.3 CAPN3 CAV3 DYSF GNE MYH7 MYOT
6 isolated hyperckemia 29.7 ANO5 CAPN3 CAV3 DMD
7 muscular dystrophy, limb-girdle, autosomal recessive 2 29.5 CAPN3 CAV3 DYSF MYOT SGCA TTN
8 myositis 29.5 CAPN3 DMD DYSF GNE TTN
9 hypertrophic cardiomyopathy 29.4 CAV3 MYH7 TTN
10 limb-girdle muscular dystrophy 29.3 ANO5 CAPN3 CAV3 DMD DYSF MYOT
11 muscular dystrophy 27.9 ANO5 CAPN3 CAV3 DMD DYSF GNE
12 miyoshi muscular dystrophy 1 12.8
13 miyoshi muscular dystrophy 2 12.7
14 welander distal myopathy 12.6
15 distal myopathy with vocal cord weakness 12.6
16 welander distal myopathy, swedish type 12.5
17 cav3-related distal myopathy 12.4
18 myopathy, distal, 1 12.4
19 late-onset distal myopathy, markesbery-griggs type 12.3
20 amyotrophic lateral sclerosis 21 12.1
21 adult-onset distal myopathy due to vcp mutation 12.1
22 klhl9-related early-onset distal myopathy 12.1
23 inclusion body myositis 12.0
24 myopathy, distal, 4 12.0
25 myopathy, distal, 5 11.9
26 myopathy, distal, with rimmed vacuoles 11.9
27 tibial muscular dystrophy, tardive 11.8
28 nonaka myopathy 11.7
29 myopathy, distal, tateyama type 11.7
30 oculopharyngodistal myopathy 11.5
31 rippling muscle disease 2 11.3
32 myopathy, distal, 3 11.2
33 myopathy, distal, infantile-onset 11.1
34 myopathy, myofibrillar, 4 11.1
35 myopathy, scapulohumeroperoneal 11.1
36 gne-related myopathy 11.1
37 distal nebulin myopathy 11.1
38 neuronopathy, distal hereditary motor, type viia 11.1
39 peripheral neuropathy, myopathy, hoarseness, and hearing loss 11.0
40 muscle disorders 10.6
41 localized lipodystrophy 10.4 DMD DYSF
42 autosomal recessive limb-girdle muscular dystrophy type 2l 10.3 ANO5 DYSF
43 polyglucosan body myopathy 1 with or without immunodeficiency 10.3 CAPN3 DMD
44 autosomal dominant limb-girdle muscular dystrophy 10.3 CAV3 MYOT
45 cardioneuromyopathy with hyaline masses and nemaline rods 10.2 DMD TTN
46 creatine phosphokinase, elevated serum 10.2 ANO5 CAV3 DMD
47 autosomal recessive limb-girdle muscular dystrophy type 2h 10.2 CAPN3 MYOT
48 myopathy, x-linked, with excessive autophagy 10.2 DMD GNE
49 reducing body myopathy 10.2 DMD TTN
50 bethlem myopathy 1 10.2 CAPN3 DMD 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:

33
# Description HPO Frequency HPO Source Accession
1 myopathy 33 frequent (33%) HP:0003198

MGI Mouse Phenotypes related to Miyoshi Muscular Dystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 CAPN3 CAV3 DMD GNE MYH7 MYOF
2 homeostasis/metabolism MP:0005376 9.61 AHNAK ANO5 CAPN3 CAV3 DMD DYSF
3 muscle MP:0005369 9.32 ANO5 CAPN3 CAV3 DMD DYSF GNE
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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glucosamine Approved, Investigational Phase 3,Phase 2 3416-24-8 439213
2
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
3 Immunoglobulins, Intravenous Phase 1
4 Immunoglobulin G Phase 1
5 Immunoglobulins Phase 1
6 Rho(D) Immune Globulin Phase 1
7 gamma-Globulins Phase 1
8 Immunologic Factors Phase 1
9 Antibodies Phase 1

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT02377921 Phase 3 aceneuramic acid extended-release (Ace-ER);Placebo
2 Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Terminated NCT02736188 Phase 3 Aceneuramic Acid Extended-Release Tablets
3 A Phase 2 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
4 An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Completed NCT02346461 Phase 2 ManNAc;ManNAc
5 An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy Completed NCT01830972 Phase 2 SA-ER 500 mg;SA-IR 500 mg
6 A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER; UX001) Tablets in Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy [HIBM]) Patients With Severe Ambulatory Impairment Terminated NCT02731690 Phase 2 Aceneuramic Acid Extended-Release
7 The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies Unknown status NCT00674843 Phase 1
8 Pharmacokinetic Study on N-acetylneuraminic Acid Completed NCT01236898 Phase 1 NPC-09
9 Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT01634750 Phase 1 ManNAc
10 Safety and Pharmacokinetics of Sialic Acid 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 Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy Completed NCT00195637 Phase 1 Immune Globulin
12 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
13 A Natural History Study of Patients With GNE Myopathy Recruiting NCT01417533
14 Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders Recruiting NCT01459302

Search NIH Clinical Center for Miyoshi Muscular Dystrophy

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 30
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Anatomical Context for Miyoshi Muscular Dystrophy

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MalaCards organs/tissues related to Miyoshi Muscular Dystrophy:

42
Skeletal Muscle, T Cells, Myeloid
Sources

Publications for Miyoshi Muscular Dystrophy

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Articles related to Miyoshi Muscular Dystrophy:

(show top 50) (show all 234)
# Title Authors Year
1
Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum. ( 30955949 )
2019
2
Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1. ( 30732915 )
2019
3
A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family. ( 30897599 )
2019
4
A Heterologous Cell Model for Studying the Role of T-Cell Intracellular Antigen 1 in Welander Distal Myopathy. ( 30348840 )
2019
5
Late onset distal myopathy: A new telethoninopathy. ( 30553702 )
2018
6
Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients. ( 30112071 )
2018
7
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. ( 30166250 )
2018
8
Distal myopathy due to BICD2 mutations. ( 29306765 )
2018
9
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. ( 29437287 )
2018
10
The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization. ( 29628183 )
2018
11
A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo. ( 29660325 )
2018
12
A new familial distal myopathy in Japan with predominant upper extremities. ( 29801888 )
2018
13
Cystinosis distal myopathy, novel clinical, pathological and genetic features. ( 28629674 )
2017
14
Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report. ( 26616227 )
2017
15
RYR1 causing distal myopathy. ( 29178655 )
2017
16
Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient. ( 28221306 )
2017
17
Distal myopathy with ADSSL1 mutations in Korean patients. ( 28268051 )
2017
18
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. ( 28295036 )
2017
19
Concentric muscle involvement in POLG-related distal myopathy. ( 28336318 )
2017
20
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. ( 28501893 )
2017
21
Autosomal dominant distal myopathy due to a novel ACTA1 mutation. ( 28606400 )
2017
22
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. ( 27519903 )
2016
23
Neurofibromatosis Type 2 Presenting with Oculomotor Ophthalmoplegia and Distal Myopathy. ( 27738538 )
2016
24
Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy. ( 27830184 )
2016
25
Atypical Miyoshi distal myopathy: A case report. ( 27882118 )
2016
26
Mutation in the caveolin-3 gene causes asymmetrical distal myopathy. ( 26947586 )
2016
27
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. ( 26976520 )
2016
28
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report. ( 27005958 )
2016
29
Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants. ( 27282841 )
2016
30
Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene. ( 27469267 )
2016
31
ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. ( 26506222 )
2016
32
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. ( 26718575 )
2016
33
Late-onset distal myopathy of the upper limbs due to P.Ile151Val mutation in the valosin-containing protein. ( 26853221 )
2016
34
X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene. ( 25246303 )
2015
35
Distal myasthenia gravis presenting as isolated distal myopathy. ( 25759217 )
2015
36
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. ( 26208961 )
2015
37
Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy. ( 26528920 )
2015
38
Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles. ( 26053703 )
2015
39
Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy. ( 26094647 )
2015
40
Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation. ( 25185957 )
2015
41
A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family. ( 25447691 )
2015
42
Impairment of respiratory function in late-onset distal myopathy due to MATR3 Mutation. ( 25677933 )
2015
43
Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations. ( 25695922 )
2015
44
Laing distal myopathy pathologically resembling inclusion body myositis. ( 25574480 )
2014
45
Phenotype of matrin-3-related distal myopathy in 16 German patients. ( 25154462 )
2014
46
Absence of beta-amyloid deposition in the central nervous system of a transgenic mouse model of distal myopathy with rimmed vacuoles. ( 24601867 )
2014
47
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. ( 24664454 )
2014
48
A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation. ( 24707269 )
2014
49
Laing early-onset distal myopathy in a Belgian family. ( 24710723 )
2014
50
A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia. ( 24737350 )
2014
Sources

Variations for Miyoshi Muscular Dystrophy

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ClinVar genetic disease variations for Miyoshi Muscular Dystrophy:

6 (show top 50) (show all 152)
# Gene Variation Type Significance SNP ID Assembly Location
1 MATR3 NM_199189.2(MATR3): c.-43T> A single nucleotide variant Benign rs12153162 GRCh37 Chromosome 5, 138643062: 138643062
2 MATR3 NM_199189.2(MATR3): c.-43T> A single nucleotide variant Benign rs12153162 GRCh38 Chromosome 5, 139307373: 139307373
3 MATR3 NM_199189.2(MATR3): c.1602+6A> G single nucleotide variant Benign/Likely benign rs80036770 GRCh38 Chromosome 5, 139319507: 139319507
4 MATR3 NM_199189.2(MATR3): c.1602+6A> G single nucleotide variant Benign/Likely benign rs80036770 GRCh37 Chromosome 5, 138655196: 138655196
5 MATR3 NM_199189.2(MATR3): c.-247C> T single nucleotide variant Benign rs141402332 GRCh38 Chromosome 5, 139279060: 139279060
6 MATR3 NM_199189.2(MATR3): c.-247C> T single nucleotide variant Benign rs141402332 GRCh37 Chromosome 5, 138614749: 138614749
7 MATR3 NM_199189.2(MATR3): c.-124T> C single nucleotide variant Uncertain significance rs886059987 GRCh38 Chromosome 5, 139307292: 139307292
8 MATR3 NM_199189.2(MATR3): c.-124T> C single nucleotide variant Uncertain significance rs886059987 GRCh37 Chromosome 5, 138642981: 138642981
9 MATR3 NM_199189.2(MATR3): c.393C> A (p.Asp131Glu) single nucleotide variant Uncertain significance rs761842979 GRCh38 Chromosome 5, 139307808: 139307808
10 MATR3 NM_199189.2(MATR3): c.393C> A (p.Asp131Glu) single nucleotide variant Uncertain significance rs761842979 GRCh37 Chromosome 5, 138643497: 138643497
11 MATR3 NM_199189.2(MATR3): c.1954C> T (p.Leu652Phe) single nucleotide variant Uncertain significance rs886059991 GRCh37 Chromosome 5, 138658462: 138658462
12 MATR3 NM_199189.2(MATR3): c.1954C> T (p.Leu652Phe) single nucleotide variant Uncertain significance rs886059991 GRCh38 Chromosome 5, 139322773: 139322773
13 MATR3 NM_199189.2(MATR3): c.2283C> T (p.Asn761=) single nucleotide variant Benign/Likely benign rs189752689 GRCh37 Chromosome 5, 138661263: 138661263
14 MATR3 NM_199189.2(MATR3): c.2283C> T (p.Asn761=) single nucleotide variant Benign/Likely benign rs189752689 GRCh38 Chromosome 5, 139325574: 139325574
15 MATR3 NM_199189.2(MATR3): c.2360A> G (p.Asn787Ser) single nucleotide variant Likely benign rs148402819 GRCh37 Chromosome 5, 138661340: 138661340
16 MATR3 NM_199189.2(MATR3): c.2360A> G (p.Asn787Ser) single nucleotide variant Likely benign rs148402819 GRCh38 Chromosome 5, 139325651: 139325651
17 MATR3 NM_199189.2(MATR3): c.2504A> G (p.Asn835Ser) single nucleotide variant Uncertain significance rs201165929 GRCh37 Chromosome 5, 138665044: 138665044
18 MATR3 NM_199189.2(MATR3): c.2504A> G (p.Asn835Ser) single nucleotide variant Uncertain significance rs201165929 GRCh38 Chromosome 5, 139329355: 139329355
19 MATR3 NM_199189.2(MATR3): c.2543A> G (p.Ter848=) single nucleotide variant Likely benign rs200664940 GRCh37 Chromosome 5, 138665083: 138665083
20 MATR3 NM_199189.2(MATR3): c.2543A> G (p.Ter848=) single nucleotide variant Likely benign rs200664940 GRCh38 Chromosome 5, 139329394: 139329394
21 MATR3 NM_199189.2(MATR3): c.*86_*89delTTAG deletion Likely benign rs368308621 GRCh37 Chromosome 5, 138665170: 138665173
22 MATR3 NM_199189.2(MATR3): c.*86_*89delTTAG deletion Likely benign rs368308621 GRCh38 Chromosome 5, 139329481: 139329484
23 MATR3 NM_199189.2(MATR3): c.*177_*178delAT deletion Uncertain significance rs767576295 GRCh38 Chromosome 5, 139329572: 139329573
24 MATR3 NM_199189.2(MATR3): c.*177_*178delAT deletion Uncertain significance rs767576295 GRCh37 Chromosome 5, 138665261: 138665262
25 MATR3 NM_199189.2(MATR3): c.*406A> G single nucleotide variant Likely benign rs185734839 GRCh38 Chromosome 5, 139329801: 139329801
26 MATR3 NM_199189.2(MATR3): c.*406A> G single nucleotide variant Likely benign rs185734839 GRCh37 Chromosome 5, 138665490: 138665490
27 MATR3 NM_199189.2(MATR3): c.*496C> T single nucleotide variant Likely benign rs140707719 GRCh38 Chromosome 5, 139329891: 139329891
28 MATR3 NM_199189.2(MATR3): c.*496C> T single nucleotide variant Likely benign rs140707719 GRCh37 Chromosome 5, 138665580: 138665580
29 MATR3 NM_199189.2(MATR3): c.*587A> G single nucleotide variant Likely benign rs535027907 GRCh38 Chromosome 5, 139329982: 139329982
30 MATR3 NM_199189.2(MATR3): c.*587A> G single nucleotide variant Likely benign rs535027907 GRCh37 Chromosome 5, 138665671: 138665671
31 MATR3 NM_199189.2(MATR3): c.*769G> A single nucleotide variant Likely benign rs561705958 GRCh38 Chromosome 5, 139330164: 139330164
32 MATR3 NM_199189.2(MATR3): c.*769G> A single nucleotide variant Likely benign rs561705958 GRCh37 Chromosome 5, 138665853: 138665853
33 MATR3 NM_199189.2(MATR3): c.*1111T> C single nucleotide variant Uncertain significance rs772678059 GRCh38 Chromosome 5, 139330506: 139330506
34 MATR3 NM_199189.2(MATR3): c.*1111T> C single nucleotide variant Uncertain significance rs772678059 GRCh37 Chromosome 5, 138666195: 138666195
35 MATR3 NM_199189.2(MATR3): c.*1821T> G single nucleotide variant Uncertain significance rs886060000 GRCh37 Chromosome 5, 138666905: 138666905
36 MATR3 NM_199189.2(MATR3): c.*1821T> G single nucleotide variant Uncertain significance rs886060000 GRCh38 Chromosome 5, 139331216: 139331216
37 MATR3 NM_199189.2(MATR3): c.*1891T> G single nucleotide variant Uncertain significance rs886060001 GRCh37 Chromosome 5, 138666975: 138666975
38 MATR3 NM_199189.2(MATR3): c.*1891T> G single nucleotide variant Uncertain significance rs886060001 GRCh38 Chromosome 5, 139331286: 139331286
39 MATR3 NM_199189.2(MATR3): c.*2222G> T single nucleotide variant Uncertain significance rs886060005 GRCh37 Chromosome 5, 138667306: 138667306
40 MATR3 NM_199189.2(MATR3): c.*2222G> T single nucleotide variant Uncertain significance rs886060005 GRCh38 Chromosome 5, 139331617: 139331617
41 MATR3 NM_199189.2(MATR3): c.-610C> G single nucleotide variant Benign rs11242456 GRCh38 Chromosome 5, 139273920: 139273920
42 MATR3 NM_199189.2(MATR3): c.-610C> G single nucleotide variant Benign rs11242456 GRCh37 Chromosome 5, 138609609: 138609609
43 MATR3 NM_199189.2(MATR3): c.-103dupT duplication Benign rs59150359 GRCh38 Chromosome 5, 139307313: 139307313
44 MATR3 NM_199189.2(MATR3): c.-103dupT duplication Benign rs59150359 GRCh37 Chromosome 5, 138643002: 138643002
45 MATR3 NM_199189.2(MATR3): c.-56G> A single nucleotide variant Likely benign rs59033177 GRCh38 Chromosome 5, 139307360: 139307360
46 MATR3 NM_199189.2(MATR3): c.-56G> A single nucleotide variant Likely benign rs59033177 GRCh37 Chromosome 5, 138643049: 138643049
47 MATR3 NM_199189.2(MATR3): c.*1087G> C single nucleotide variant Likely benign rs116660718 GRCh37 Chromosome 5, 138666171: 138666171
48 MATR3 NM_199189.2(MATR3): c.291A> G (p.Leu97=) single nucleotide variant Benign/Likely benign rs147239107 GRCh38 Chromosome 5, 139307706: 139307706
49 MATR3 NM_199189.2(MATR3): c.291A> G (p.Leu97=) single nucleotide variant Benign/Likely benign rs147239107 GRCh37 Chromosome 5, 138643395: 138643395
50 MATR3 NM_199189.2(MATR3): c.1347C> T (p.Ala449=) single nucleotide variant Benign/Likely benign rs141986556 GRCh37 Chromosome 5, 138654635: 138654635
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:

38
# 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 67
Show member pathways
 11.98 CAV3 DMD DYSF TTN
2
Dilated cardiomyopathy (DCM) 38
Show member pathways
 11.17 DMD MYH7 SGCA TTN
3
Smooth Muscle Contraction 67
10.71 CAV3 DYSF
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 membrane raft GO:0045121 9.67 AHNAK CAV3 DMD SGCA
2 vesicle GO:0031982 9.63 AHNAK ANO5 CAV3
3 myofibril GO:0030016 9.5 CAPN3 DMD MYH7
4 T-tubule GO:0030315 9.46 AHNAK CAPN3 CAV3 DYSF
5 costamere GO:0043034 9.43 AHNAK DMD
6 dystrophin-associated glycoprotein complex GO:0016010 9.43 CAV3 DMD SGCA
7 Z disc GO:0030018 9.43 CAPN3 CAV3 DMD MYH7 MYOT TTN
8 sarcolemma GO:0042383 9.1 AHNAK CAV3 DMD DYSF MYOT SGCA
9 plasma membrane GO:0005886 10.1 AHNAK ANO5 CAPN3 CAV3 DMD DYSF

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.67 CAPN3 CAV3 DMD SGCA
2 cardiac muscle contraction GO:0060048 9.65 DMD MYH7 TTN
3 muscle filament sliding GO:0030049 9.63 DMD MYH7 TTN
4 regulation of heart rate GO:0002027 9.61 CAV3 DMD MYH7
5 sarcomere organization GO:0045214 9.59 CAPN3 TTN
6 myoblast fusion GO:0007520 9.58 CAV3 MYOF
7 striated muscle contraction GO:0006941 9.58 MYH7 TTN
8 skeletal muscle tissue regeneration GO:0043403 9.58 DMD DYSF SGCA
9 glycerol metabolic process GO:0006071 9.57 DYSF MYOF
10 response to denervation involved in regulation of muscle adaptation GO:0014894 9.56 DMD SGCA
11 regulation of calcium ion import GO:0090279 9.55 CAV3 DYSF
12 nucleus localization GO:0051647 9.54 CAV3 DMD
13 regulation of voltage-gated calcium channel activity GO:1901385 9.52 AHNAK DMD
14 detection of muscle stretch GO:0035995 9.51 CAV3 TTN
15 muscle cell cellular homeostasis GO:0046716 9.5 CAPN3 CAV3 DMD
16 regulation of skeletal muscle contraction GO:0014819 9.49 CAV3 DMD
17 muscle fiber development GO:0048747 9.43 DMD DYSF MYOF
18 plasma membrane repair GO:0001778 9.33 CAV3 DYSF MYOF
19 muscle contraction GO:0006936 9.17 CAV3 DYSF MYH7 MYOF MYOT SGCA
20 T-tubule organization GO:0033292 9.13 CAV3 DYSF MYOF

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

# Name GO ID Score Top Affiliating Genes
1 alpha-tubulin binding GO:0043014 9.26 CAV3 DYSF
2 nitric-oxide synthase binding GO:0050998 9.16 CAV3 DMD
3 structural molecule activity conferring elasticity GO:0097493 8.96 AHNAK TTN
4 structural constituent of muscle GO:0008307 8.92 CAPN3 DMD MYOT TTN
Sources

Sources for Miyoshi Muscular Dystrophy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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47 MGI
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55 NINDS
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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