MCID: MYS014
MIFTS: 19

Miyoshi Muscular Dystrophy 3

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

Aliases & Classifications for Miyoshi Muscular Dystrophy 3

MalaCards integrated aliases for Miyoshi Muscular Dystrophy 3:

Name: Miyoshi Muscular Dystrophy 3 57 75 29 13 6 73
Mmd3 57 59 75
Miyoshi Myopathy 3 57 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
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 muscular dystrophy, and has symptoms including calf muscle weakness An important gene associated with Miyoshi Muscular Dystrophy 3 is ANO5 (Anoctamin 5). Related phenotypes are elevated serum creatine phosphokinase and muscular dystrophy

Description from OMIM: 613319

Related Diseases for Miyoshi Muscular Dystrophy 3

Diseases in the Miyoshi Muscular Dystrophy 1 family:

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 muscular dystrophy 10.0

Symptoms & Phenotypes for Miyoshi Muscular Dystrophy 3

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
distal muscle weakness
difficulty climbing stairs
difficulty running
mri shows fatty infiltration of affected muscles
inability to stand on tiptoes
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 distal muscle weakness 32 HP:0002460
4 quadriceps muscle atrophy 32 HP:0009050
5 difficulty climbing stairs 32 HP:0003551
6 calf muscle hypertrophy 32 HP:0008981
7 difficulty running 32 HP:0009046

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 33)
# 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/Likely pathogenic rs398124625 GRCh37 Chromosome 11, 22225349: 22225349
13 ANO5 NM_213599.2(ANO5): c.41-1G> A single nucleotide variant Pathogenic/Likely 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 Pathogenic/Likely pathogenic rs201725369 GRCh37 Chromosome 11, 22239825: 22239825
23 ANO5 NM_213599.2(ANO5): c.172C> T (p.Arg58Trp) single nucleotide variant Pathogenic/Likely pathogenic rs201725369 GRCh38 Chromosome 11, 22218279: 22218279
24 ANO5 NM_213599.2(ANO5): c.155A> G (p.Asn52Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143777403 GRCh37 Chromosome 11, 22239808: 22239808
25 ANO5 NM_213599.2(ANO5): c.155A> G (p.Asn52Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs143777403 GRCh38 Chromosome 11, 22218262: 22218262
26 ANO5 NM_213599.2(ANO5): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs566415362 GRCh37 Chromosome 11, 22276946: 22276946
27 ANO5 NM_213599.2(ANO5): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs566415362 GRCh38 Chromosome 11, 22255400: 22255400
28 ANO5 NM_213599.2(ANO5): c.304_308delAAAGA (p.Lys102Valfs) deletion Pathogenic rs886041551 GRCh37 Chromosome 11, 22247539: 22247543
29 ANO5 NM_213599.2(ANO5): c.304_308delAAAGA (p.Lys102Valfs) deletion Pathogenic rs886041551 GRCh38 Chromosome 11, 22225993: 22225997
30 ANO5 NM_213599.2(ANO5): c.2235+1G> A single nucleotide variant Pathogenic rs886042442 GRCh37 Chromosome 11, 22294536: 22294536
31 ANO5 NM_213599.2(ANO5): c.2235+1G> A single nucleotide variant Pathogenic rs886042442 GRCh38 Chromosome 11, 22272990: 22272990
32 ANO5 NM_213599.2(ANO5): c.1631-12_1631-2delTTAACTTAACA deletion Pathogenic rs886043327 GRCh37 Chromosome 11, 22283663: 22283673
33 ANO5 NM_213599.2(ANO5): c.1631-12_1631-2delTTAACTTAACA deletion Pathogenic rs886043327 GRCh38 Chromosome 11, 22262117: 22262127

Expression for Miyoshi Muscular Dystrophy 3

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

Pathways for Miyoshi Muscular Dystrophy 3

GO Terms for Miyoshi Muscular Dystrophy 3

Sources for Miyoshi Muscular Dystrophy 3

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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