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MMD3
MCID: MYS014
MIFTS: 41

Miyoshi Muscular Dystrophy 3 (MMD3)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Miyoshi Muscular Dystrophy 3

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MalaCards integrated aliases for Miyoshi Muscular Dystrophy 3:

Name: Miyoshi Muscular Dystrophy 3 56 12 73 29 13 6 43 15 71
Mmd3 56 12 58 73
Miyoshi Myopathy 3 56 12 73
Dystrophy, Muscular, Miyoshi, Type 3 39
Miyoshi Muscular Dystrophy Type 3 58
Distal Anoctaminopathy 58

Characteristics:

Orphanet epidemiological data:

58
distal anoctaminopathy
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset age 20 to 51 years
independent ambulation is maintained
female mutations carriers have a milder phenotype, with myalgia, calf hypertrophy, or isolated increased serum creatine kinase
limb-girdle muscular dystrophy type 2l (lgmd2l, ) is an allelic disorder


HPO:

31
miyoshi muscular dystrophy 3:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity adult onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare 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:0070201
OMIM 56 613319
OMIM Phenotypic Series 56 PS254130
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C2750076
Orphanet 58 ORPHA399096
MedGen 41 C2750076
UMLS 71 C2750076
Sources

Summaries for Miyoshi Muscular Dystrophy 3

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UniProtKB/Swiss-Prot : 73 Miyoshi muscular dystrophy 3: A late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric.

MalaCards based summary : Miyoshi Muscular Dystrophy 3, also known as mmd3, is related to limb-girdle muscular dystrophy and muscular dystrophy, limb-girdle, autosomal recessive 2, and has symptoms including calf muscle weakness An important gene associated with Miyoshi Muscular Dystrophy 3 is ANO5 (Anoctamin 5), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Affiliated tissues include skeletal muscle, and related phenotypes are distal lower limb muscle weakness and waddling gait

Disease Ontology : 12 A Miyoshi muscular dystrophy that has material basis in mutation in the ANO5 gene on chromosome 11p14.

More information from OMIM: 613319 PS254130
Sources

Related Diseases for Miyoshi Muscular Dystrophy 3

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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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 29.8 SGCD DYSF CAPN3 ANO5
2 muscular dystrophy, limb-girdle, autosomal recessive 2 29.7 SGCD DYSF CAPN3 ANO5
3 autosomal recessive limb-girdle muscular dystrophy type 2l 29.5 SGCD DYSF CAPN3 ANO5 ANO2
4 gnathodiaphyseal dysplasia 29.0 ANO7 ANO6 ANO5 ANO2 ANO10 ANO1
5 miyoshi muscular dystrophy 1 11.6
6 autosomal recessive limb-girdle muscular dystrophy type 2q 10.3 DYSF ANO5
7 autosomal recessive limb-girdle muscular dystrophy type 2x 10.3 DYSF ANO5
8 periosteal chondrosarcoma 10.3 METTL3 METTL14
9 dysferlinopathy 10.3 DYSF CAPN3
10 muscular dystrophy, limb-girdle, autosomal recessive 7 10.3 DYSF CAPN3
11 muscular dystrophy, limb-girdle, autosomal recessive 8 10.2 DYSF CAPN3
12 creatine phosphokinase, elevated serum 10.2 CAPN3 ANO5
13 muscular dystrophy, limb-girdle, autosomal recessive 12 10.1
14 myopathy 10.1
15 muscular dystrophy 10.1
16 ano5 muscle disease 10.1
17 muscular dystrophy-dystroglycanopathy , type c, 4 10.1 DYSF CAPN3 ANO5
18 muscular dystrophy-dystroglycanopathy , type c, 5 10.1 DYSF CAPN3 ANO5
19 isolated elevated serum creatine phosphokinase levels 10.1 DYSF CAPN3 ANO5
20 tibial muscular dystrophy 10.1 DYSF CAPN3
21 tracheomalacia 10.1 ANO7 ANO1
22 autosomal dominant limb-girdle muscular dystrophy 10.0 DYSF CAPN3
23 cardiomyopathy, dilated, 3b 10.0 SGCD DYSF
24 muscular dystrophy-dystroglycanopathy , type c, 1 9.9 SGCD DYSF ANO5
25 muscular dystrophy, congenital merosin-deficient, 1a 9.9 SGCD DYSF
26 autosomal recessive limb-girdle muscular dystrophy type 2j 9.9 SGCD DYSF CAPN3
27 autosomal recessive limb-girdle muscular dystrophy type 2f 9.9 SGCD DYSF CAPN3
28 muscular dystrophy, limb-girdle, autosomal recessive 6 9.9 SGCD DYSF CAPN3
29 muscular dystrophy, limb-girdle, autosomal dominant 2 9.8 SGCD DYSF CAPN3
30 muscular dystrophy, becker type 9.8 SGCD DYSF CAPN3
31 ullrich congenital muscular dystrophy 1 9.8 SGCD DYSF CAPN3
32 myopathy, myofibrillar, 3 9.8 DYSF CAPN3
33 muscular dystrophy, congenital, lmna-related 9.8 DYSF CAPN3 ANO5
34 muscle tissue disease 9.8 SGCD DYSF CAPN3
35 muscular disease 9.7 SGCD DYSF CAPN3
36 autosomal recessive limb-girdle muscular dystrophy 9.7 SGCD DYSF CAPN3 ANO5
37 autosomal recessive limb-girdle muscular dystrophy type 2h 9.7 SGCD DYSF CAPN3 ANO5
38 autosomal recessive limb-girdle muscular dystrophy type 2c 9.7 SGCD DYSF CAPN3 ANO5
39 autosomal recessive limb-girdle muscular dystrophy type 2g 9.7 SGCD DYSF CAPN3 ANO5
40 autosomal recessive limb-girdle muscular dystrophy type 2a 9.7 SGCD DYSF CAPN3 ANO5
41 autosomal recessive limb-girdle muscular dystrophy type 2b 9.7 SGCD DYSF CAPN3 ANO5
42 autosomal recessive limb-girdle muscular dystrophy type 2d 9.7 SGCD DYSF CAPN3 ANO5
43 bethlem myopathy 1 9.7 SGCD DYSF CAPN3 ANO5
44 walker-warburg syndrome 9.7 SGCD DYSF CAPN3
45 spinocerebellar ataxia, autosomal recessive 10 9.6 ANO7 ANO6 ANO5 ANO10
46 miyoshi muscular dystrophy 9.4 SGCD MMD2 DYSF CAPN3 ANO5 ANO2
47 scott syndrome 9.2 ANO7 ANO6 ANO5 ANO2 ANO10 ANO1

Graphical network of the top 20 diseases related to Miyoshi Muscular Dystrophy 3:



Diseases related to Miyoshi Muscular Dystrophy 3
Sources

Symptoms & Phenotypes for Miyoshi Muscular Dystrophy 3

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Human phenotypes related to Miyoshi Muscular Dystrophy 3:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distal lower limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009053
2 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
3 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
4 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
5 difficulty running 58 31 frequent (33%) Frequent (79-30%) HP:0009046
6 highly elevated creatine kinase 31 frequent (33%) HP:0030234
7 proximal muscle weakness in upper limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0008997
8 distal amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003693
9 progressive proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009073
10 calf muscle pseudohypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003707
11 rhabdomyolysis 58 31 very rare (1%) Very rare (<4-1%) HP:0003201
12 elevated serum creatine kinase 31 HP:0003236
13 muscular dystrophy 31 HP:0003560
14 calf muscle hypertrophy 31 HP:0008981
15 distal muscle weakness 31 HP:0002460
16 progressive muscle weakness 58 Very frequent (99-80%)
17 difficulty climbing stairs 31 HP:0003551
18 highly elevated creatine phosphokinase 58 Frequent (79-30%)
19 quadriceps muscle atrophy 31 HP:0009050
20 peroneal muscle atrophy 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
distal muscle weakness
difficulty climbing stairs
difficulty running
calf muscle weakness
disruption of the sarcolemmal membrane seen on muscle biopsy
more
Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM:

613319

UMLS symptoms related to Miyoshi Muscular Dystrophy 3:


calf muscle weakness
Sources

Drugs & Therapeutics for Miyoshi Muscular Dystrophy 3

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study to Assess Biomarkers of Changes in Barrier Function of Skeletal Muscle in Patients With a Fragile Sarcolemmal Muscular Dystrophy Active, not recruiting NCT01851447

Search NIH Clinical Center for Miyoshi Muscular Dystrophy 3

Cochrane evidence based reviews: miyoshi muscular dystrophy 3

Sources

Genetic Tests for Miyoshi Muscular Dystrophy 3

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Genetic tests related to Miyoshi Muscular Dystrophy 3:

# Genetic test Affiliating Genes
1 Miyoshi Muscular Dystrophy 3 29 ANO5
Sources

Anatomical Context for Miyoshi Muscular Dystrophy 3

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MalaCards organs/tissues related to Miyoshi Muscular Dystrophy 3:

40
Skeletal Muscle
Sources

Publications for Miyoshi Muscular Dystrophy 3

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Articles related to Miyoshi Muscular Dystrophy 3:

(show all 18)
# Title Authors PMID Year
1
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 61 56 6
20096397 2010
2
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. 56 6
22402862 2012
3
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. 6 56
17132147 2007
4
Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. 56 6
9673985 1998
5
ANO5 Muscle Disease 6 61
23193613 2012
6
Limb-Girdle Muscular Dystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301582 2000
7
Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca2+ signaling of differentiated C2C12 myotubes. 61
31680776 2019
8
Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy. 61
31350120 2019
9
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 61
30919934 2019
10
Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells. 61
31341644 2019
11
Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations. 61
29789544 2018
12
A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide. 61
29665321 2018
13
Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy. 61
26693275 2015
14
Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. 61
25176504 2014
15
Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. 61
23530687 2013
16
ANO5 mutations in the Dutch limb girdle muscular dystrophy population. 61
23607914 2013
17
Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study. 61
22980764 2012
18
New monoclonal anti-mouse DC-SIGN antibodies reactive with acetone-fixed cells. 61
20558171 2010
Sources

Variations for Miyoshi Muscular Dystrophy 3

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ClinVar genetic disease variations for Miyoshi Muscular Dystrophy 3:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANO5 NM_213599.2(ANO5):c.1158del (p.Phe386fs)deletion Pathogenic 619026 rs1564936489 11:22272533-22272533 11:22250987-22250987
2 ANO5 NM_213599.2(ANO5):c.1295C>G (p.Ala432Gly)SNV Pathogenic 2163 rs137854524 11:22277031-22277031 11:22255485-22255485
3 ANO5 NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)SNV Pathogenic 2166 rs137854529 11:22296151-22296151 11:22274605-22274605
4 ANO5 ANO5, IVS14DS, G-A, +5SNV Pathogenic 39750
5 ANO5 NM_001142649.2(ANO5):c.986dup (p.Leu329fs)duplication Pathogenic 96688 rs398124626 11:22271891-22271892 11:22250345-22250346
6 ANO5 NM_213599.2(ANO5):c.1898+1G>ASNV Pathogenic 194805 rs142027093 11:22284590-22284590 11:22263044-22263044
7 ANO5 NM_213599.2(ANO5):c.304_308del (p.Lys102fs)deletion Pathogenic 280322 rs776859202 11:22247535-22247539 11:22225989-22225993
8 ANO5 NM_213599.2(ANO5):c.148C>T (p.Arg50Ter)SNV Pathogenic 468825 rs1168346560 11:22239801-22239801 11:22218255-22218255
9 ANO5 NM_001142649.2(ANO5):c.188dup (p.Asn63fs)duplication Pathogenic/Likely pathogenic 2164 rs137854521 11:22242646-22242647 11:22221100-22221101
10 ANO5 NM_213599.2(ANO5):c.692G>T (p.Gly231Val)SNV Pathogenic/Likely pathogenic 2165 rs137854523 11:22257752-22257752 11:22236206-22236206
11 ANO5 NM_213599.2(ANO5):c.1640G>A (p.Arg547Gln)SNV Uncertain significance 282394 rs139618850 11:22283684-22283684 11:22262138-22262138
12 ANO5 NM_213599.2(ANO5):c.1693_1715del (p.Phe565fs)deletion Uncertain significance 548626 rs1554931773 11:22283736-22283758 11:22262190-22262212
13 ANO5 NM_213599.2(ANO5):c.1081G>C (p.Asp361His)SNV Uncertain significance 452453 rs1554929295 11:22272354-22272354 11:22250808-22250808
Sources

Expression for Miyoshi Muscular Dystrophy 3

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Search GEO for disease gene expression data for Miyoshi Muscular Dystrophy 3.
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Pathways for Miyoshi Muscular Dystrophy 3

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Pathways related to Miyoshi Muscular Dystrophy 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 12.56 ANO7 ANO6 ANO5 ANO2 ANO10 ANO1
2
Ion channel transport 65
Show member pathways
 11.6 ANO7 ANO6 ANO5 ANO2 ANO10 ANO1
Sources

GO Terms for Miyoshi Muscular Dystrophy 3

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Cellular components related to Miyoshi Muscular Dystrophy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel complex GO:0034707 9.13 ANO6 ANO2 ANO1
2 RNA N6-methyladenosine methyltransferase complex GO:0036396 8.8 WTAP METTL3 METTL14

Biological processes related to Miyoshi Muscular Dystrophy 3 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.8 ANO7 ANO6 ANO5 ANO2 ANO10 ANO1
2 cation transport GO:0006812 9.7 ANO6 ANO10 ANO1
3 ion transmembrane transport GO:0034220 9.63 ANO7 ANO6 ANO5 ANO2 ANO10 ANO1
4 RNA metabolic process GO:0016070 9.58 WTAP METTL3 METTL14
5 mRNA catabolic process GO:0006402 9.56 METTL3 METTL14
6 RNA methylation GO:0001510 9.55 METTL3 METTL14
7 mRNA destabilization GO:0061157 9.54 METTL3 METTL14
8 gliogenesis GO:0042063 9.51 METTL3 METTL14
9 forebrain radial glial cell differentiation GO:0021861 9.49 METTL3 METTL14
10 calcium activated galactosylceramide scrambling GO:0061591 9.48 ANO7 ANO6
11 calcium activated phosphatidylcholine scrambling GO:0061590 9.46 ANO7 ANO6
12 calcium activated phospholipid scrambling GO:0061588 9.43 ANO7 ANO6
13 mRNA methylation GO:0080009 9.43 WTAP METTL3 METTL14
14 chloride transmembrane transport GO:1902476 9.43 ANO7 ANO6 ANO5 ANO2 ANO10 ANO1
15 calcium activated phosphatidylserine scrambling GO:0061589 9.37 ANO7 ANO6
16 chloride transport GO:0006821 9.1 ANO7 ANO6 ANO5 ANO2 ANO10 ANO1

Molecular functions related to Miyoshi Muscular Dystrophy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein dimerization activity GO:0046983 9.55 ANO7 ANO6 ANO5 ANO2 ANO1
2 calcium activated cation channel activity GO:0005227 9.5 ANO6 ANO10 ANO1
3 phospholipid scramblase activity GO:0017128 9.43 ANO7 ANO6
4 S-adenosyl-L-methionine binding GO:1904047 9.43 ZCCHC4 METTL3 METTL14
5 voltage-gated chloride channel activity GO:0005247 9.4 ANO6 ANO1
6 mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity GO:0016422 9.37 METTL3 METTL14
7 chloride channel activity GO:0005254 9.35 ANO7 ANO6 ANO5 ANO2 ANO1
8 intracellular calcium activated chloride channel activity GO:0005229 9.1 ANO7 ANO6 ANO5 ANO2 ANO10 ANO1
Sources

Sources for Miyoshi Muscular Dystrophy 3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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