Miyoshi Muscular Dystrophy 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Muscular dystrophy

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

SNOMED-CT via HPO ⁶⁹ 258211005 249942005 282195009 more

UMLS ⁷³ C2750076

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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

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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:

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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 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

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Drugs & Therapeutics for Miyoshi Muscular Dystrophy 3

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

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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

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Anatomical Context for Miyoshi Muscular Dystrophy 3

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Publications for Miyoshi Muscular Dystrophy 3

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Genes for Miyoshi Muscular Dystrophy 3

Genes related to Miyoshi Muscular Dystrophy 3 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ANO5	Anoctamin 5	Protein Coding	1387.82	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20301582 23193613 22402862 (more) 17132147 20096397 9673985
2	ANO10	Anoctamin 10	Protein Coding	16.38	DISEASES inferred ¹⁵
3	DYSF	Dysferlin	Protein Coding	16.3	DISEASES inferred ¹⁵
4	ANO6	Anoctamin 6	Protein Coding	16.11	DISEASES inferred ¹⁵
5	ANO2	Anoctamin 2	Protein Coding	15.8	DISEASES inferred ¹⁵
6	CLCA4	Chloride Channel Accessory 4	Protein Coding	15.48	DISEASES inferred ¹⁵
7	CLCA2	Chloride Channel Accessory 2	Protein Coding	15.39	DISEASES inferred ¹⁵
8	CLCA1	Chloride Channel Accessory 1	Protein Coding	15.12	DISEASES inferred ¹⁵
9	CD209	CD209 Molecule	Protein Coding	14.74	DISEASES inferred ¹⁵
10	MMD2	Monocyte To Macrophage Differentiation Associated 2	Protein Coding	6.81	DISEASES inferred ¹⁵
11	ANO1	Anoctamin 1	Protein Coding	4.69	DISEASES inferred ¹⁵
12	MMD	Monocyte To Macrophage Differentiation Associated	Protein Coding	3.85	DISEASES inferred ¹⁵
13	DECR1	2,4-Dienoyl-CoA Reductase 1	Protein Coding	3.55	DISEASES inferred ¹⁵

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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

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Expression for Miyoshi Muscular Dystrophy 3

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

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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	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁶ Show member pathways Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Class II GLUTs ⁶⁶ Facilitative Na+-independent glucose transporters ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Na+-dependent glucose transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transmembrane transport of small molecules ⁶⁶ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶	12.69	ANO1 ANO10 ANO2 ANO5 ANO6 CLCA1
2	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	11.72	ANO1 ANO10 ANO2 ANO5 ANO6 CLCA1
3	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.59	CLCA1 CLCA2 CLCA4
4	Pancreatic secretion ³⁷	11.42	CLCA1 CLCA2 CLCA4
5	Renin secretion ³⁷	11.14	CLCA1 CLCA2 CLCA4

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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

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Sources for Miyoshi Muscular Dystrophy 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

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¹⁶ DrugBank

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¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Miyoshi Muscular Dystrophy 3 (MMD3)

Aliases & Classifications for Miyoshi Muscular Dystrophy 3

MalaCards integrated aliases for Miyoshi Muscular Dystrophy 3:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Miyoshi Muscular Dystrophy 3

Related Diseases for Miyoshi Muscular Dystrophy 3

Diseases in the Miyoshi Muscular Dystrophy family:

Diseases related to Miyoshi Muscular Dystrophy 3 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Miyoshi Muscular Dystrophy 3

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Miyoshi Muscular Dystrophy 3:

UMLS symptoms related to Miyoshi Muscular Dystrophy 3:

Drugs & Therapeutics for Miyoshi Muscular Dystrophy 3

Genetic Tests for Miyoshi Muscular Dystrophy 3

Genetic tests related to Miyoshi Muscular Dystrophy 3:

Anatomical Context for Miyoshi Muscular Dystrophy 3

Publications for Miyoshi Muscular Dystrophy 3

Genes for Miyoshi Muscular Dystrophy 3

Genes related to Miyoshi Muscular Dystrophy 3 (1 elite genes):

Variations for Miyoshi Muscular Dystrophy 3

ClinVar genetic disease variations for Miyoshi Muscular Dystrophy 3:

Expression for Miyoshi Muscular Dystrophy 3

Pathways for Miyoshi Muscular Dystrophy 3

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

GO Terms for Miyoshi Muscular Dystrophy 3

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

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

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

Sources for Miyoshi Muscular Dystrophy 3