MMD3
MCID: MYS014
MIFTS: 33

Miyoshi Muscular Dystrophy 3 (MMD3)

Categories: Gastrointestinal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Miyoshi Muscular Dystrophy 3

MalaCards integrated aliases for Miyoshi Muscular Dystrophy 3:

Name: Miyoshi Muscular Dystrophy 3 57 12 75 29 13 6 15 73
Mmd3 57 12 59 75
Miyoshi Myopathy 3 57 12 75
Dystrophy, Muscular, Miyoshi, Type 3 40
Miyoshi Muscular Dystrophy Type 3 59
Distal Anoctaminopathy 59

Characteristics:

Orphanet epidemiological data:

59
distal anoctaminopathy
Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
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:

32
miyoshi muscular dystrophy 3:
Onset and clinical course variable expressivity adult onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613319
Disease Ontology 12 DOID:0070201
Orphanet 59 ORPHA399096
UMLS via Orphanet 74 C2750076
ICD10 via Orphanet 34 G71.0
MedGen 42 C2750076
MeSH 44 D049310
UMLS 73 C2750076

Summaries for Miyoshi Muscular Dystrophy 3

UniProtKB/Swiss-Prot : 75 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 miyoshi muscular dystrophy and autosomal recessive limb-girdle muscular dystrophy, 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 elevated serum creatine phosphokinase and muscular dystrophy

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

Description from OMIM: 613319

Related Diseases for Miyoshi Muscular Dystrophy 3

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:

# Related Disease Score Top Affiliating Genes
1 miyoshi muscular dystrophy 10.1 ANO5 DYSF
2 autosomal recessive limb-girdle muscular dystrophy 10.1 ANO5 DYSF
3 autosomal recessive limb-girdle muscular dystrophy type 2l 10.1 ANO5 DYSF
4 scott syndrome 10.0 ANO10 ANO2 ANO6
5 bestrophinopathy 9.9 CLCA1 CLCA2 CLCA4
6 moyamoya disease 1 9.7 MMD MMD2

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



Diseases related to Miyoshi Muscular Dystrophy 3

Symptoms & Phenotypes for Miyoshi Muscular Dystrophy 3

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
difficulty climbing stairs
difficulty running
distal muscle weakness
calf muscle weakness
mri shows fatty infiltration of affected muscles
more
Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

613319

Human phenotypes related to Miyoshi Muscular Dystrophy 3:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 32 HP:0003236
2 muscular dystrophy 32 HP:0003560
3 difficulty climbing stairs 32 HP:0003551
4 difficulty running 32 HP:0009046
5 calf muscle hypertrophy 32 HP:0008981
6 distal muscle weakness 32 HP:0002460
7 quadriceps muscle atrophy 32 HP:0009050

UMLS symptoms related to Miyoshi Muscular Dystrophy 3:


calf muscle weakness

Drugs & Therapeutics for Miyoshi Muscular Dystrophy 3

Search Clinical Trials , NIH Clinical Center for Miyoshi Muscular Dystrophy 3

Genetic Tests for Miyoshi Muscular Dystrophy 3

Genetic tests related to Miyoshi Muscular Dystrophy 3:

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

Anatomical Context for Miyoshi Muscular Dystrophy 3

Publications for Miyoshi Muscular Dystrophy 3

Variations for Miyoshi Muscular Dystrophy 3

ClinVar genetic disease variations for Miyoshi Muscular Dystrophy 3:

6 (show all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANO5 NM_213599.2(ANO5): c.1295C> G (p.Ala432Gly) single nucleotide variant Pathogenic rs137854524 GRCh37 Chromosome 11, 22277031: 22277031
2 ANO5 NM_213599.2(ANO5): c.1295C> G (p.Ala432Gly) single nucleotide variant Pathogenic rs137854524 GRCh38 Chromosome 11, 22255485: 22255485
3 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic rs137854521 GRCh37 Chromosome 11, 22242653: 22242653
4 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic rs137854521 GRCh38 Chromosome 11, 22221107: 22221107
5 ANO5 NM_213599.2(ANO5): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854523 GRCh37 Chromosome 11, 22257752: 22257752
6 ANO5 NM_213599.2(ANO5): c.692G> T (p.Gly231Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854523 GRCh38 Chromosome 11, 22236206: 22236206
7 ANO5 NM_213599.2(ANO5): c.2272C> T (p.Arg758Cys) single nucleotide variant Pathogenic rs137854529 GRCh37 Chromosome 11, 22296151: 22296151
8 ANO5 NM_213599.2(ANO5): c.2272C> T (p.Arg758Cys) single nucleotide variant Pathogenic rs137854529 GRCh38 Chromosome 11, 22274605: 22274605
9 ANO5 ANO5, IVS14DS, G-A, +5 single nucleotide variant Pathogenic
10 ANO5 NM_213599.2(ANO5): c.242A> G (p.Asp81Gly) single nucleotide variant Likely pathogenic rs199501657 GRCh37 Chromosome 11, 22242704: 22242704
11 ANO5 NM_213599.2(ANO5): c.242A> G (p.Asp81Gly) single nucleotide variant Likely pathogenic rs199501657 GRCh38 Chromosome 11, 22221158: 22221158
12 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic rs398124625 GRCh37 Chromosome 11, 22225349: 22225349
13 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic rs398124625 GRCh38 Chromosome 11, 22203803: 22203803
14 ANO5 NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs) duplication Pathogenic rs398124626 GRCh37 Chromosome 11, 22271893: 22271893
15 ANO5 NM_213599.2(ANO5): c.989dupT (p.Leu330Phefs) duplication Pathogenic rs398124626 GRCh38 Chromosome 11, 22250347: 22250347
16 ANO5 NM_213599.2(ANO5): c.1709C> G (p.Ser570Ter) single nucleotide variant Pathogenic rs765262083 GRCh37 Chromosome 11, 22283753: 22283753
17 ANO5 NM_213599.2(ANO5): c.1709C> G (p.Ser570Ter) single nucleotide variant Pathogenic rs765262083 GRCh38 Chromosome 11, 22262207: 22262207
18 ANO5 NM_213599.2(ANO5): c.2172_2178delTCATAGC (p.His725Terfs) deletion Pathogenic rs794727231 GRCh37 Chromosome 11, 22294472: 22294478
19 ANO5 NM_213599.2(ANO5): c.2172_2178delTCATAGC (p.His725Terfs) deletion Pathogenic rs794727231 GRCh38 Chromosome 11, 22272926: 22272932
20 ANO5 NM_213599.2(ANO5): c.2176dupA (p.Ser726Lysfs) duplication Pathogenic rs797044667 GRCh37 Chromosome 11, 22294476: 22294476
21 ANO5 NM_213599.2(ANO5): c.2176dupA (p.Ser726Lysfs) duplication Pathogenic rs797044667 GRCh38 Chromosome 11, 22272930: 22272930
22 ANO5 NM_213599.2(ANO5): c.172C> T (p.Arg58Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201725369 GRCh37 Chromosome 11, 22239825: 22239825
23 ANO5 NM_213599.2(ANO5): c.172C> T (p.Arg58Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201725369 GRCh38 Chromosome 11, 22218279: 22218279
24 ANO5 NM_213599.2(ANO5): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs566415362 GRCh37 Chromosome 11, 22276946: 22276946
25 ANO5 NM_213599.2(ANO5): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs566415362 GRCh38 Chromosome 11, 22255400: 22255400
26 ANO5 NM_213599.2(ANO5): c.304_308delAAAGA (p.Lys102Valfs) deletion Pathogenic rs886041551 GRCh37 Chromosome 11, 22247539: 22247543
27 ANO5 NM_213599.2(ANO5): c.304_308delAAAGA (p.Lys102Valfs) deletion Pathogenic rs886041551 GRCh38 Chromosome 11, 22225993: 22225997
28 ANO5 NM_213599.2(ANO5): c.2235+1G> A single nucleotide variant Pathogenic rs886042442 GRCh37 Chromosome 11, 22294536: 22294536
29 ANO5 NM_213599.2(ANO5): c.2235+1G> A single nucleotide variant Pathogenic rs886042442 GRCh38 Chromosome 11, 22272990: 22272990
30 ANO5 NM_213599.2(ANO5): c.1631-12_1631-2delTTAACTTAACA deletion Pathogenic/Likely pathogenic rs886043327 GRCh37 Chromosome 11, 22283663: 22283673
31 ANO5 NM_213599.2(ANO5): c.1631-12_1631-2delTTAACTTAACA deletion Pathogenic/Likely pathogenic rs886043327 GRCh38 Chromosome 11, 22262117: 22262127
32 ANO5 NM_213599.2(ANO5): c.1081G> C (p.Asp361His) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 22272354: 22272354
33 ANO5 NM_213599.2(ANO5): c.1081G> C (p.Asp361His) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 22250808: 22250808
34 ANO5 NM_213599.2(ANO5): c.1693_1715del (p.Phe565Leufs) deletion Uncertain significance GRCh37 Chromosome 11, 22283737: 22283759
35 ANO5 NM_213599.2(ANO5): c.1693_1715del (p.Phe565Leufs) deletion Uncertain significance GRCh38 Chromosome 11, 22262191: 22262213

Expression for Miyoshi Muscular Dystrophy 3

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

Pathways for Miyoshi Muscular Dystrophy 3

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 ANO1 ANO10 ANO2 ANO5 ANO6 CLCA1
2
Show member pathways
11.72 ANO1 ANO10 ANO2 ANO5 ANO6 CLCA1
3
Show member pathways
11.59 CLCA1 CLCA2 CLCA4
4 11.42 CLCA1 CLCA2 CLCA4
5 11.14 CLCA1 CLCA2 CLCA4

GO Terms for Miyoshi Muscular Dystrophy 3

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.96 ANO1 ANO10 ANO2 ANO5 ANO6 CD209
2 membrane GO:0016020 9.93 ANO1 ANO10 ANO2 ANO5 ANO6 CD209
3 integral component of membrane GO:0016021 9.4 ANO1 ANO10 ANO2 ANO5 ANO6 CD209
4 chloride channel complex GO:0034707 9.13 ANO1 ANO2 ANO6

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.72 ANO1 ANO2 ANO6 CLCA1 CLCA2
2 chloride transmembrane transport GO:1902476 9.63 ANO1 ANO2 ANO6 CLCA1 CLCA2 CLCA4
3 ion transmembrane transport GO:0034220 9.56 ANO1 ANO10 ANO2 ANO5 ANO6 CLCA1
4 cation transport GO:0006812 9.43 ANO1 ANO10 ANO6
5 positive regulation of protein kinase activity GO:0045860 9.4 MMD MMD2
6 regulation of protein localization GO:0032880 9.37 MMD MMD2
7 chloride transport GO:0006821 9.23 ANO1 ANO10 ANO2 ANO5 ANO6 CLCA1

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

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 9.58 CLCA1 CLCA2 CLCA4
2 protein dimerization activity GO:0046983 9.56 ANO1 ANO2 ANO5 ANO6
3 metalloendopeptidase activity GO:0004222 9.54 CLCA1 CLCA2 CLCA4
4 chloride channel activity GO:0005254 9.43 ANO1 ANO2 ANO6 CLCA1 CLCA2 CLCA4
5 calcium activated cation channel activity GO:0005227 9.33 ANO1 ANO10 ANO6
6 voltage-gated chloride channel activity GO:0005247 9.32 ANO1 ANO6
7 intracellular calcium activated chloride channel activity GO:0005229 9.23 ANO1 ANO10 ANO2 ANO5 ANO6 CLCA1

Sources for Miyoshi Muscular Dystrophy 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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