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 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:

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

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 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

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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

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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 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

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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):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ANO5	Anoctamin 5	Protein Coding	1404.17	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	22402862 20301582 23193613 (more) 20096397 9673985 17132147

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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

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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

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GO Terms for Miyoshi Muscular Dystrophy 3

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Sources for Miyoshi Muscular Dystrophy 3

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