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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Distal Myopathies (D049310)
Parent Node: Muscular Atrophy (D009133)
..Starting node ..Miyoshi Muscular Dystrophy 3 (C567645)
Child Nodes:
Sister Nodes:
..Allan-Herndon-Dudley syndrome (C537047)
..Arnold Stickler Bourne syndrome (C537431)
..Facial Dysmorphism with Multiple Malformations (C565579)
..Furukawa Takagi Nakao syndrome (C538193)
..Lethal Congenital Contractural Syndrome 3 (C566961)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Miyoshi Muscular Dystrophy 2 (C567646)
..Miyoshi Muscular Dystrophy 3 (C567645)
..Miyoshi myopathy (C537480)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Muscular Atrophy, Malignant Neurogenic (C563559)
..Nathalie syndrome (C538342)
..Primrose syndrome (C536420)
..Sarcopenia (D055948)
..Thakker Donnai syndrome (C536503)
..Wieacker syndrome (C536703)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7348

Name:

Miyoshi Muscular Dystrophy 3

Definition:

Alternative IDs:

OMIM:613319

ParentIDs:

MESH:D009133|MESH:D049310

TreeNumbers:

C05.651.534.500.074/C567645 |C10.597.613.612/C567645 |C10.668.491.175.500.074/C567645 |C16.320.577.074/C567645 |C23.300.070.500/C567645 |C23.888.592.608.612/C567645

Synonyms:

Miyoshi Myopathy 3 |MMD3

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms

Reference:

MedGen: C567645
MeSH: C567645
OMIM: 613319;

Genes: ANO5;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003581	Adult onset
3	HP:0008981	Calf muscle hypertrophy
4	HP:0003551	Difficulty climbing stairs
5	HP:0009046	Difficulty running
6	HP:0002460	Distal muscle weakness
7	HP:0003236	Elevated circulating creatine kinase concentration
8	HP:0003560	Muscular dystrophy
9	HP:0009050	Quadriceps muscle atrophy
10	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_213599.2(ANO5):c.41-1G>A	203859	ANO5	Pathogenic	398124625	RCV000176019; RCV000176018; RCV000082852;	N	MedGen:C1969785,OMIM:611307,ORPHA:206549; MedGen:C2750076,OMIM:613319,ORPHA:399096; MedGen:CN221809	11	22225349	22225349	NM_213599.2:c.41-1G>A		NC_000011.9:g.22225349G>A	-	C1969785 611307 Limb-girdle muscular dystrophy, type 2L; C2750076 613319 Miyoshi muscular dystrophy 3; CN221809 not provided
NM_213599.2(ANO5):c.155A>G (p.Asn52Ser)	203859	ANO5	Likely pathogenic;Uncertain significance	143777403	RCV000178421; RCV000200720;	N	MedGen:C1969785,OMIM:611307,ORPHA:206549; MedGen:C2750076,OMIM:613319,ORPHA:399096; MedGen:CN221809	11	22239808	22239808	NM_213599.2:c.155A>G	NP_998764.1:p.Asn52Ser	NC_000011.9:g.22239808A>G	-	C1969785 611307 Limb-girdle muscular dystrophy, type 2L; C2750076 613319 Miyoshi muscular dystrophy 3; CN221809 not provided
NM_213599.2(ANO5):c.155A>G (p.Asn52Ser)	203859	ANO5	Likely pathogenic;Uncertain significance	143777403	RCV000178421; RCV000200720;	N	MedGen:C1969785,OMIM:611307,ORPHA:206549; MedGen:C2750076,OMIM:613319,ORPHA:399096; MedGen:CN221809	11	22239808	22239808	NM_213599.2:c.155A>G	NP_998764.1:p.Asn52Ser	NC_000011.9:g.22239808A>G	-	C1969785 611307 Limb-girdle muscular dystrophy, type 2L; C2750076 613319 Miyoshi muscular dystrophy 3; CN221809 not provided
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp)	203859	ANO5	Likely pathogenic;Pathogenic	201725369	RCV000178420; RCV000178419;	N	MedGen:C1969785,OMIM:611307,ORPHA:206549; MedGen:C2750076,OMIM:613319,ORPHA:399096	11	22239825	22239825	NM_213599.2:c.172C>T	NP_998764.1:p.Arg58Trp	NC_000011.9:g.22239825C>T	-	C1969785 611307 Limb-girdle muscular dystrophy, type 2L; C2750076 613319 Miyoshi muscular dystrophy 3
NM_213599.2(ANO5):c.191dupA (p.Asn64Lysfs)	203859	ANO5	Likely pathogenic;Pathogenic	137854521	RCV000002248; RCV000002247; RCV000082844; RCV000200720;	N	MedGen:C1969785,OMIM:611307,ORPHA:206549; MedGen:C2750076,OMIM:613319,ORPHA:399096; MedGen:CN221809	11	22242653	22242653	NM_213599.2:c.191dupA	NP_998764.1:p.Asn64Lysfs	NC_000011.9:g.22242653dupA	HGMD:CI101059,OMIM Allelic Variant:608662.0004	C1969785 611307 Limb-girdle muscular dystrophy, type 2L; C2750076 613319 Miyoshi muscular dystrophy 3; CN221809 not provided
NM_213599.2(ANO5):c.191dupA (p.Asn64Lysfs)	203859	ANO5	Likely pathogenic;Pathogenic	137854521	RCV000002248; RCV000002247; RCV000082844; RCV000200720;	N	MedGen:C1969785,OMIM:611307,ORPHA:206549; MedGen:C2750076,OMIM:613319,ORPHA:399096; MedGen:CN221809	11	22242653	22242653	NM_213599.2:c.191dupA	NP_998764.1:p.Asn64Lysfs	NC_000011.9:g.22242653dupA	HGMD:CI101059,OMIM Allelic Variant:608662.0004	C1969785 611307 Limb-girdle muscular dystrophy, type 2L; C2750076 613319 Miyoshi muscular dystrophy 3; CN221809 not provided
NM_213599.2(ANO5):c.692G>T (p.Gly231Val)	203859	ANO5	Pathogenic	137854523	RCV000002249; RCV000180402; RCV000082853;	N	MedGen:C1969785,OMIM:611307,ORPHA:206549; MedGen:C2750076,OMIM:613319,ORPHA:399096; MedGen:CN221809	11	22257752	22257752	NM_213599.2:c.692G>T	NP_998764.1:p.Gly231Val	NC_000011.9:g.22257752G>T	HGMD:CM101058,OMIM Allelic Variant:608662.0005	C1969785 611307 Limb-girdle muscular dystrophy, type 2L; C2750076 613319 Miyoshi muscular dystrophy 3; CN221809 not provided
NM_213599.2(ANO5):c.989dupT (p.Leu330Phefs)	203859	ANO5	Pathogenic	398124626	RCV000173931; RCV000173930; RCV000082856;	N	MedGen:C1969785,OMIM:611307,ORPHA:206549; MedGen:C2750076,OMIM:613319,ORPHA:399096; MedGen:CN221809	11	22271893	22271893	NM_213599.2:c.989dupT	NP_998764.1:p.Leu330Phefs	NC_000011.9:g.22271893dupT	-	C1969785 611307 Limb-girdle muscular dystrophy, type 2L; C2750076 613319 Miyoshi muscular dystrophy 3; CN221809 not provided
NM_213599.2(ANO5):c.1295C>G (p.Ala432Gly)	203859	ANO5	Pathogenic	137854524	RCV000002246; RCV000174627; RCV000082843;	N	MedGen:C1969785,OMIM:611307,ORPHA:206549; MedGen:C2750076,OMIM:613319,ORPHA:399096; MedGen:CN221809	11	22277031	22277031	NM_213599.2:c.1295C>G	NP_998764.1:p.Ala432Gly	NC_000011.9:g.22277031C>G	HGMD:CS101060,OMIM Allelic Variant:608662.0003	C1969785 611307 Limb-girdle muscular dystrophy, type 2L; C2750076 613319 Miyoshi muscular dystrophy 3; CN221809 not provided
NM_213599.2(ANO5):c.1709C>G (p.Ser570Ter)	203859	ANO5	Pathogenic	765262083	RCV000175113; RCV000175114;	N	MedGen:C1969785,OMIM:611307,ORPHA:206549; MedGen:C2750076,OMIM:613319,ORPHA:399096	11	22283753	22283753	NM_213599.2:c.1709C>G	NP_998764.1:p.Ser570Ter	NC_000011.9:g.22283753C>G	-	C1969785 611307 Limb-girdle muscular dystrophy, type 2L; C2750076 613319 Miyoshi muscular dystrophy 3
NM_213599.2(ANO5):c.2172_2178delTCATAGC (p.His725Terfs)	203859	ANO5	Pathogenic	794727231	RCV000175501; RCV000175500;	N	MedGen:C1969785,OMIM:611307,ORPHA:206549; MedGen:C2750076,OMIM:613319,ORPHA:399096	11	22294472	22294478	NM_213599.2:c.2172_2178delTCATAGC	NP_998764.1:p.His725Terfs	NC_000011.9:g.22294472_22294478delTCATAGC	-	C1969785 611307 Limb-girdle muscular dystrophy, type 2L; C2750076 613319 Miyoshi muscular dystrophy 3
NM_213599.2(ANO5):c.2176dupA (p.Ser726Lysfs)	203859	ANO5	Pathogenic	797044667	RCV000175502; RCV000175503;	N	MedGen:C1969785,OMIM:611307,ORPHA:206549; MedGen:C2750076,OMIM:613319,ORPHA:399096	11	22294476	22294476	NM_213599.2:c.2176dupA	NP_998764.1:p.Ser726Lysfs	NC_000011.9:g.22294476dupA	-	C1969785 611307 Limb-girdle muscular dystrophy, type 2L; C2750076 613319 Miyoshi muscular dystrophy 3
NM_213599.2(ANO5):c.2272C>T (p.Arg758Cys)	203859	ANO5	Pathogenic	137854529	RCV000032966; RCV000002250; RCV000128778;	N	MedGen:C1969785,OMIM:611307,ORPHA:206549; MedGen:C2750076,OMIM:613319,ORPHA:399096; MedGen:CN221809	11	22296151	22296151	NM_213599.2:c.2272C>T	NP_998764.1:p.Arg758Cys	NC_000011.9:g.22296151C>T	OMIM Allelic Variant:608662.0006	C1969785 611307 Limb-girdle muscular dystrophy, type 2L; C2750076 613319 Miyoshi muscular dystrophy 3; CN221809 not provided