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MMD3
MCID: MYS014
MIFTS: 40

Miyoshi Muscular Dystrophy 3 (MMD3)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations 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 57 12 72 29 13 6 44 15 70
Mmd3 57 12 58 72
Miyoshi Myopathy 3 57 12 72
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®:

57 (Updated 20-May-2021)
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® 57 613319
OMIM Phenotypic Series 57 PS254130
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C2750076
Orphanet 58 ORPHA399096
MedGen 41 C2750076
UMLS 70 C2750076
Sources

Summaries for Miyoshi Muscular Dystrophy 3

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UniProtKB/Swiss-Prot : 72 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 muscular dystrophy, limb-girdle, autosomal recessive 2 and autosomal recessive limb-girdle muscular dystrophy type 2l, 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. 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 muscular dystrophy, limb-girdle, autosomal recessive 2 29.7 DYSF CAPN3 ANO5
2 autosomal recessive limb-girdle muscular dystrophy type 2l 29.6 DYSF CAPN3 ANO5 ANO2
3 gnathodiaphyseal dysplasia 28.0 ANO8 ANO7 ANO6 ANO5 ANO3 ANO2
4 miyoshi muscular dystrophy 1 11.0
5 ludwig's angina 10.3 ANO5 ANO2
6 autosomal recessive limb-girdle muscular dystrophy type 2x 10.3 DYSF ANO5
7 periosteal chondrosarcoma 10.2 METTL3 METTL14
8 limb-girdle muscular dystrophy type 1a 10.1 DYSF CAPN3
9 muscular dystrophy, limb-girdle, autosomal recessive 7 10.1 DYSF CAPN3
10 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 DYSF CAPN3
11 dysferlinopathy 10.1 DYSF CAPN3
12 muscular dystrophy, limb-girdle, autosomal recessive 4 10.1 DYSF CAPN3
13 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 DYSF CAPN3
14 muscular dystrophy-dystroglycanopathy , type c, 2 10.0 CAPN3 ANO5
15 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0 DYSF CAPN3
16 muscular dystrophy, limb-girdle, autosomal recessive 8 10.0 DYSF CAPN3
17 tracheomalacia 10.0 ANO7 ANO1
18 muscular dystrophy, limb-girdle, autosomal dominant 2 10.0 DYSF CAPN3
19 autosomal recessive limb-girdle muscular dystrophy 10.0 DYSF CAPN3 ANO5
20 autosomal recessive limb-girdle muscular dystrophy type 2h 10.0 DYSF CAPN3 ANO5
21 myopathy, myofibrillar, 3 10.0 DYSF CAPN3
22 autosomal recessive limb-girdle muscular dystrophy type 2c 10.0 DYSF CAPN3 ANO5
23 autosomal recessive limb-girdle muscular dystrophy type 2g 10.0 DYSF CAPN3 ANO5
24 autosomal recessive limb-girdle muscular dystrophy type 2a 10.0 DYSF CAPN3 ANO5
25 muscular dystrophy-dystroglycanopathy , type c, 4 10.0 DYSF CAPN3 ANO5
26 autosomal recessive limb-girdle muscular dystrophy type 2d 10.0 DYSF CAPN3 ANO5
27 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 DYSF CAPN3 ANO5
28 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 DYSF CAPN3 ANO5
29 muscular dystrophy, limb-girdle, autosomal dominant 1 10.0 DYSF CAPN3
30 tibial muscular dystrophy 10.0 DYSF CAPN3 ANO5
31 isolated elevated serum creatine phosphokinase levels 10.0 DYSF CAPN3 ANO5
32 bethlem myopathy 1 10.0 DYSF CAPN3 ANO5
33 creatine phosphokinase, elevated serum 9.9 CAPN3 ANO5
34 myofibrillar myopathy 9.9 DYSF CAPN3 ANO5
35 glycogen storage disease ii 9.9 CAPN3 ANO5
36 fructose intolerance, hereditary 9.9
37 muscular dystrophy, limb-girdle, autosomal recessive 12 9.9
38 myopathy 9.9
39 muscular dystrophy 9.9
40 limb-girdle muscular dystrophy 9.9
41 ano5 muscle disease 9.9
42 nonaka myopathy 9.8 DYSF CAPN3
43 muscular dystrophy, congenital, lmna-related 9.8 DYSF CAPN3 ANO5
44 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.7 DYSF CAPN3
45 miyoshi muscular dystrophy 9.7 MMD2 DYSF CAPN3 ANO5 ANO2
46 spinocerebellar ataxia, autosomal recessive 10 9.4 ANO7 ANO6 ANO5 ANO3 ANO10
47 scott syndrome 8.8 ANO8 ANO7 ANO6 ANO5 ANO3 ANO2

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



Diseases related to Miyoshi Muscular Dystrophy 3
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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 progressive proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009073
9 distal amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003693
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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Miyoshi Muscular Dystrophy 3:


calf muscle weakness
Sources

Drugs & Therapeutics for Miyoshi Muscular Dystrophy 3

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Search Clinical Trials , 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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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. 6 57 61
20096397 2010
2
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. 57 6
22402862 2012
3
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. 57 6
17132147 2007
4
Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. 6 57
9673985 1998
5
Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations. 61
32925086 2020
6
Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca2+ signaling of differentiated C2C12 myotubes. 61
31680776 2019
7
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 61
30919934 2019
8
Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy. 61
31350120 2019
9
Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells. 61
31341644 2019
10
Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations. 61
29789544 2018
11
A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide. 61
29665321 2018
12
Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy. 61
26693275 2015
13
Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. 61
25176504 2014
14
ANO5 mutations in the Dutch limb girdle muscular dystrophy population. 61
23607914 2013
15
Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy. 61
23530687 2013
16
ANO5 Muscle Disease 61
23193613 2012
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 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANO5 NM_213599.2(ANO5):c.1640G>A (p.Arg547Gln) SNV Affects 282394 rs139618850 GRCh37: 11:22283684-22283684
GRCh38: 11:22262138-22262138
2 ANO5 NM_213599.2(ANO5):c.148C>T (p.Arg50Ter) SNV Pathogenic 468825 rs1168346560 GRCh37: 11:22239801-22239801
GRCh38: 11:22218255-22218255
3 ANO5 NM_213599.2(ANO5):c.1295C>G (p.Ala432Gly) SNV Pathogenic 2163 rs137854524 GRCh37: 11:22277031-22277031
GRCh38: 11:22255485-22255485
4 ANO5 NM_213599.2(ANO5):c.1898+1G>A SNV Pathogenic 194805 rs142027093 GRCh37: 11:22284590-22284590
GRCh38: 11:22263044-22263044
5 ANO5 NM_213599.2(ANO5):c.169C>T (p.Arg57Trp) SNV Pathogenic 432004 rs1323349209 GRCh37: 11:22239822-22239822
GRCh38: 11:22218276-22218276
6 ANO5 NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) SNV Pathogenic 197402 rs201725369 GRCh37: 11:22239825-22239825
GRCh38: 11:22218279-22218279
7 ANO5 NM_213599.3(ANO5):c.898dup (p.Ile300fs) Duplication Pathogenic 976689 GRCh37: 11:22271796-22271797
GRCh38: 11:22250250-22250251
8 ANO5 NM_213599.3(ANO5):c.2116C>T (p.Arg706Ter) SNV Pathogenic 1029543 GRCh37: 11:22294416-22294416
GRCh38: 11:22272870-22272870
9 ANO5 NM_213599.2(ANO5):c.2004del (p.Leu669fs) Deletion Pathogenic 285669 rs886043172 GRCh37: 11:22291961-22291961
GRCh38: 11:22270415-22270415
10 ANO5 NM_213599.2(ANO5):c.692G>T (p.Gly231Val) SNV Pathogenic 2165 rs137854523 GRCh37: 11:22257752-22257752
GRCh38: 11:22236206-22236206
11 ANO5 NM_001142649.2(ANO5):c.188dup (p.Asn63fs) Duplication Pathogenic 2164 rs137854521 GRCh37: 11:22242646-22242647
GRCh38: 11:22221100-22221101
12 ANO5 NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) SNV Pathogenic 2166 rs137854529 GRCh37: 11:22296151-22296151
GRCh38: 11:22274605-22274605
13 ANO5 ANO5, IVS14DS, G-A, +5 SNV Pathogenic 39750 GRCh37:
GRCh38:
14 ANO5 NM_213599.2(ANO5):c.1158del (p.Phe386fs) Deletion Pathogenic 619026 rs1564936489 GRCh37: 11:22272533-22272533
GRCh38: 11:22250987-22250987
15 ANO5 NM_001142649.2(ANO5):c.188dup (p.Asn63fs) Duplication Likely pathogenic 2164 rs137854521 GRCh37: 11:22242646-22242647
GRCh38: 11:22221100-22221101
16 ANO5 NM_213599.2(ANO5):c.1693_1715del (p.Phe565fs) Deletion Uncertain significance 548626 rs1554931773 GRCh37: 11:22283736-22283758
GRCh38: 11:22262190-22262212
17 ANO5 NM_213599.2(ANO5):c.1081G>C (p.Asp361His) SNV not provided 452453 rs1554929295 GRCh37: 11:22272354-22272354
GRCh38: 11:22250808-22250808
18 ANO5 NM_001142649.2(ANO5):c.986dup (p.Leu329fs) Duplication not provided 96688 rs398124626 GRCh37: 11:22271891-22271892
GRCh38: 11:22250345-22250346
19 ANO5 NM_213599.2(ANO5):c.304_308del (p.Lys102fs) Deletion not provided 280322 rs776859202 GRCh37: 11:22247535-22247539
GRCh38: 11:22225989-22225993
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
 12.74 ANO8 ANO7 ANO6 ANO5 ANO4 ANO3
2
Ion channel transport 65
Show member pathways
 11.77 ANO8 ANO7 ANO6 ANO5 ANO4 ANO3
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 integral component of membrane GO:0016021 10 MMD2 DYSF ANO8 ANO7 ANO6 ANO5
2 plasma membrane GO:0005886 9.9 DYSF CAPN3 ANO8 ANO7 ANO6 ANO5
3 T-tubule GO:0030315 9.32 DYSF CAPN3
4 RNA N6-methyladenosine methyltransferase complex GO:0036396 8.96 METTL3 METTL14
5 chloride channel complex GO:0034707 8.8 ANO6 ANO2 ANO1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.02 ANO8 ANO7 ANO6 ANO5 ANO4 ANO3
2 ion transmembrane transport GO:0034220 9.81 ANO8 ANO7 ANO6 ANO5 ANO4 ANO3
3 lipid transport GO:0006869 9.76 ANO7 ANO6 ANO4 ANO3
4 positive regulation of translation GO:0045727 9.7 ZCCHC4 METTL3 METTL14
5 cation transport GO:0006812 9.69 ANO6 ANO10 ANO1
6 calcium activated phospholipid scrambling GO:0061588 9.62 ANO7 ANO6 ANO4 ANO3
7 calcium activated galactosylceramide scrambling GO:0061591 9.61 ANO7 ANO4 ANO3
8 calcium activated phosphatidylserine scrambling GO:0061589 9.58 ANO7 ANO6 ANO4
9 mRNA catabolic process GO:0006402 9.57 METTL3 METTL14
10 RNA methylation GO:0001510 9.56 METTL3 METTL14
11 calcium activated phosphatidylcholine scrambling GO:0061590 9.56 ANO7 ANO6 ANO4 ANO3
12 chloride transport GO:0006821 9.56 ANO8 ANO7 ANO6 ANO5 ANO4 ANO2
13 mRNA destabilization GO:0061157 9.55 METTL3 METTL14
14 mRNA methylation GO:0080009 9.54 METTL3 METTL14
15 gliogenesis GO:0042063 9.49 METTL3 METTL14
16 forebrain radial glial cell differentiation GO:0021861 9.48 METTL3 METTL14
17 chloride transmembrane transport GO:1902476 9.28 ANO8 ANO7 ANO6 ANO5 ANO4 ANO3

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 9.7 ANO7 ANO6 ANO5 ANO4 ANO3 ANO2
2 phospholipid scramblase activity GO:0017128 9.56 ANO7 ANO6 ANO4 ANO3
3 S-adenosyl-L-methionine binding GO:1904047 9.54 ZCCHC4 METTL3 METTL14
4 calcium activated cation channel activity GO:0005227 9.5 ANO6 ANO10 ANO1
5 chloride channel activity GO:0005254 9.5 ANO7 ANO6 ANO5 ANO4 ANO3 ANO2
6 voltage-gated chloride channel activity GO:0005247 9.43 ANO6 ANO1
7 mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity GO:0016422 9.4 METTL3 METTL14
8 intracellular calcium activated chloride channel activity GO:0005229 9.28 ANO8 ANO7 ANO6 ANO5 ANO4 ANO3
Sources

Sources for Miyoshi Muscular Dystrophy 3

About this section
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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