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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Distal Myopathies (D049310)
Parent Node: Muscular Atrophy (D009133)
..Starting node ..Miyoshi myopathy (C537480)
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:

7349

Name:

Miyoshi myopathy

Definition:

Alternative IDs:

OMIM:254130

ParentIDs:

MESH:D009133|MESH:D049310

TreeNumbers:

C05.651.534.500.074/C537480 |C10.597.613.612/C537480 |C10.668.491.175.500.074/C537480 |C16.320.577.074/C537480 |C23.300.070.500/C537480 |C23.888.592.608.612/C537480

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C537480
MeSH: C537480
OMIM: 254130;

Genes: DYSF;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003581	Adult onset	HP:0040282
3	HP:0009072	Decreased Achilles reflex
4	HP:0200101	Decreased/absent ankle reflexes
5	HP:0003791	Deposits immunoreactive to beta-amyloid protein	HP:0040283
6	HP:0003551	Difficulty climbing stairs
7	HP:0003693	Distal amyotrophy
8	HP:0002460	Distal muscle weakness
9	HP:0003236	Elevated circulating creatine kinase concentration
10	HP:0001425	Heterogeneous
11	HP:0007340	Lower limb muscle weakness
12	HP:0010546	Muscle fibrillation
13	HP:0003560	Muscular dystrophy

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_001130978.1(DYSF):c.200_201delTGinsAT (p.Val67Asp)	8291	DYSF	Pathogenic	121908957	RCV000170323; RCV000007058;	N	MedGen:C1850808,OMIM:254130,ORPHA:45448; MedGen:C1850889,OMIM:253601,ORPHA:268	2	71709064	71709065	NM_001130978.1:c.200_201delTGinsAT	NP_001124450.1:p.Val67Asp	NC_000002.11:g.71709064_71709065delTGinsAT	OMIM Allelic Variant:603009.0009	C1850889 253601 Limb-girdle muscular dystrophy, type 2B; C1850808 254130 Miyoshi muscular dystrophy 1
NM_003494.3(DYSF):c.265C>T (p.Arg89Ter)	8291	DYSF	Pathogenic	794727636	RCV000178194; RCV000178195;	N	MedGen:C1850808,OMIM:254130,ORPHA:45448; MedGen:C1850889,OMIM:253601,ORPHA:268	2	71730372	71730372	NM_003494.3:c.265C>T	NP_003485.1:p.Arg89Ter	NC_000002.11:g.71730372C>T	-	C1850889 253601 Limb-girdle muscular dystrophy, type 2B; C1850808 254130 Miyoshi muscular dystrophy 1
NM_001130978.1(DYSF):c.895G>T (p.Gly299Trp)	8291	DYSF	Pathogenic	121908963	RCV000007069;	N	MedGen:C1850808,OMIM:254130,ORPHA:45448	2	71744158	71744158	NM_001130978.1:c.895G>T	NP_001124450.1:p.Gly299Trp	NC_000002.11:g.71744158G>A,NC_000002.11:g.71744158G>T	OMIM Allelic Variant:603009.0018	C1850808 254130 Miyoshi muscular dystrophy 1
NM_001130978.1(DYSF):c.1555G>A (p.Gly519Arg)	8291	DYSF	Pathogenic	121908962	RCV000007066;	N	MedGen:C1850808,OMIM:254130,ORPHA:45448	2	71778203	71778203	NM_001130978.1:c.1555G>A	NP_001124450.1:p.Gly519Arg	NC_000002.11:g.71778203G>A	OMIM Allelic Variant:603009.0015	C1850808 254130 Miyoshi muscular dystrophy 1
NM_001130978.1(DYSF):c.1813C>T (p.Gln605Ter)	8291	DYSF	Pathogenic	121908953	RCV000007047;	N	MedGen:C1850808,OMIM:254130,ORPHA:45448	2	71780201	71780201	NM_001130978.1:c.1813C>T	NP_001124450.1:p.Gln605Ter	NC_000002.11:g.71780201C>T	OMIM Allelic Variant:603009.0001	C1850808 254130 Miyoshi muscular dystrophy 1
NM_003494.3(DYSF):c.1956G>A (p.Trp652Ter)	8291	DYSF	Pathogenic	794727343	RCV000176199; RCV000176200; RCV000176198;	N	MedGen:C1847532,OMIM:606768,ORPHA:178400; MedGen:C1850808,OMIM:254130,ORPHA:45448; MedGen:C1850889,OMIM:253601,ORPHA:268	2	71780962	71780962	NM_003494.3:c.1956G>A	NP_003485.1:p.Trp652Ter	NC_000002.11:g.71780962G>A	-	C0340100 178400 High altitude pulmonary edema; C1850889 253601 Limb-girdle muscular dystrophy, type 2B; C1850808 254130 Miyoshi muscular dystrophy 1; C1847532 606768 Myopathy, distal, with anterior tibial onset
NM_001130978.1(DYSF):c.2372C>G (p.Pro791Arg)	8291	DYSF	Pathogenic	121908956	RCV000007056; RCV000007055; RCV000080252;	N	MedGen:C1850808,OMIM:254130,ORPHA:45448; MedGen:C1850889,OMIM:253601,ORPHA:268; MedGen:CN221809	2	71791204	71791204	NM_001130978.1:c.2372C>G	NP_001124450.1:p.Pro791Arg	NC_000002.11:g.71791204C>G	HGMD:CM990491,OMIM Allelic Variant:603009.0007	C1850889 253601 Limb-girdle muscular dystrophy, type 2B; C1850808 254130 Miyoshi muscular dystrophy 1; CN221809 not provided
NM_001130978.1(DYSF):c.2997G>T (p.Trp999Cys)	8291	DYSF	Pathogenic	28937581	RCV000007059; RCV000176869; RCV000080261;	N	MedGen:C1850808,OMIM:254130,ORPHA:45448; MedGen:C1850889,OMIM:253601,ORPHA:268; MedGen:CN221809	2	71797430	71797430	NM_001130978.1:c.2997G>T	NP_001124450.1:p.Trp999Cys	NC_000002.11:g.71797430G>T	HGMD:CM994325,OMIM Allelic Variant:603009.0010	C1850889 253601 Limb-girdle muscular dystrophy, type 2B; C1850808 254130 Miyoshi muscular dystrophy 1; CN221809 not provided
NM_001130978.1(DYSF):c.3137G>A (p.Arg1046His)	8291	DYSF	Pathogenic	121908958	RCV000007060; RCV000176936; RCV000080266;	N	MedGen:C1850808,OMIM:254130,ORPHA:45448; MedGen:C1850889,OMIM:253601,ORPHA:268; MedGen:CN221809	2	71797834	71797834	NM_001130978.1:c.3137G>A	NP_001124450.1:p.Arg1046His	NC_000002.11:g.71797834G>A	HGMD:CM994326,OMIM Allelic Variant:603009.0011	C1850889 253601 Limb-girdle muscular dystrophy, type 2B; C1850808 254130 Miyoshi muscular dystrophy 1; CN221809 not provided
NM_003494.3(DYSF):c.3230G>A (p.Trp1077Ter)	8291	DYSF	Pathogenic	794727534	RCV000177465; RCV000177464;	N	MedGen:C1850808,OMIM:254130,ORPHA:45448; MedGen:C1850889,OMIM:253601,ORPHA:268	2	71801383	71801383	NM_003494.3:c.3230G>A	NP_003485.1:p.Trp1077Ter	NC_000002.11:g.71801383G>A	-	C1850889 253601 Limb-girdle muscular dystrophy, type 2B; C1850808 254130 Miyoshi muscular dystrophy 1
NM_003494.3(DYSF):c.3516_3517delTT (p.Ser1173Terfs)	8291	DYSF	Likely pathogenic;Pathogenic	863224867	RCV000198403; RCV000201179;	N	MedGen:C1847532,OMIM:606768,ORPHA:178400; MedGen:C1850808,OMIM:254130,ORPHA:45448; MedGen:C1850889,OMIM:253601,ORPHA:268	2	71817414	71817415	NM_003494.3:c.3516_3517delTT	NP_003485.1:p.Ser1173Terfs	NC_000002.11:g.71817414_71817415delTT	-	C0340100 178400 High altitude pulmonary edema; C1850889 253601 Limb-girdle muscular dystrophy, type 2B; C1850808 254130 Miyoshi muscular dystrophy 1; C1847532 606768 Myopathy, distal, with anterior tibial onset
NM_003494.3(DYSF):c.3516_3517delTT (p.Ser1173Terfs)	8291	DYSF	Likely pathogenic;Pathogenic	863224867	RCV000198403; RCV000201179;	N	MedGen:C1847532,OMIM:606768,ORPHA:178400; MedGen:C1850808,OMIM:254130,ORPHA:45448; MedGen:C1850889,OMIM:253601,ORPHA:268	2	71817414	71817415	NM_003494.3:c.3516_3517delTT	NP_003485.1:p.Ser1173Terfs	NC_000002.11:g.71817414_71817415delTT	-	C0340100 178400 High altitude pulmonary edema; C1850889 253601 Limb-girdle muscular dystrophy, type 2B; C1850808 254130 Miyoshi muscular dystrophy 1; C1847532 606768 Myopathy, distal, with anterior tibial onset
NM_001130978.1(DYSF):c.3892A>G (p.Ile1298Val)	8291	DYSF	Benign;Pathogenic	121908954	RCV000007049; RCV000007050; RCV000153183;	N	MedGen:C1850808,OMIM:254130,ORPHA:45448; MedGen:C1850889,OMIM:253601,ORPHA:268; MedGen:CN169374	2	71829924	71829924	NM_001130978.1:c.3892A>G	NP_001124450.1:p.Ile1298Val	NC_000002.11:g.71829924A>G	HGMD:CM980575,OMIM Allelic Variant:603009.0003	C1850889 253601 Limb-girdle muscular dystrophy, type 2B; C1850808 254130 Miyoshi muscular dystrophy 1; CN169374 not specified
NM_003494.3(DYSF):c.4756C>T (p.Arg1586Ter)	8291	DYSF	Pathogenic	398123789	RCV000178525; RCV000178524; RCV000080296;	N	MedGen:C1850808,OMIM:254130,ORPHA:45448; MedGen:C1850889,OMIM:253601,ORPHA:268; MedGen:CN221809	2	71886125	71886125	NM_003494.3:c.4756C>T	NP_003485.1:p.Arg1586Ter	NC_000002.11:g.71886125C>T	HGMD:CM013384	C1850889 253601 Limb-girdle muscular dystrophy, type 2B; C1850808 254130 Miyoshi muscular dystrophy 1; CN221809 not provided
NM_003494.3(DYSF):c.5078G>A (p.Arg1693Gln)	8291	DYSF	Likely pathogenic	779987458	RCV000198403;	N	MedGen:C1847532,OMIM:606768,ORPHA:178400; MedGen:C1850808,OMIM:254130,ORPHA:45448; MedGen:C1850889,OMIM:253601,ORPHA:268	2	71892312	71892312	NM_003494.3:c.5078G>A	NP_003485.1:p.Arg1693Gln	NC_000002.11:g.71892312G>A	-	C0340100 178400 High altitude pulmonary edema; C1850889 253601 Limb-girdle muscular dystrophy, type 2B; C1850808 254130 Miyoshi muscular dystrophy 1; C1847532 606768 Myopathy, distal, with anterior tibial onset
NM_001130978.1(DYSF):c.5776C>T (p.Arg1926Ter)	8291	DYSF	Pathogenic	121908959	RCV000007061; RCV000007062; RCV000007063; RCV000080312;	N	MedGen:C1847532,OMIM:606768,ORPHA:178400; MedGen:C1850808,OMIM:254130,ORPHA:45448; MedGen:C1850889,OMIM:253601,ORPHA:268; MedGen:CN221809	2	71901372	71901372	NM_001130978.1:c.5776C>T	NP_001124450.1:p.Arg1926Ter	NC_000002.11:g.71901372C>T	HGMD:CM052851,OMIM Allelic Variant:603009.0012	C0340100 178400 High altitude pulmonary edema; C1850889 253601 Limb-girdle muscular dystrophy, type 2B; C1850808 254130 Miyoshi muscular dystrophy 1; C1847532 606768 Myopathy, distal, with anterior tibial onset; CN221809 not provided
NM_001130978.1(DYSF):c.6187C>T (p.Arg2063Cys)	8291	DYSF	Pathogenic	121908955	RCV000007051; RCV000007052; RCV000080320;	N	MedGen:C1850808,OMIM:254130,ORPHA:45448; MedGen:C1850889,OMIM:253601,ORPHA:268; MedGen:CN221809	2	71909727	71909727	NM_001130978.1:c.6187C>T	NP_001124450.1:p.Arg2063Cys	NC_000002.11:g.71909727C>T	HGMD:CM980578,OMIM Allelic Variant:603009.0004	C1850889 253601 Limb-girdle muscular dystrophy, type 2B; C1850808 254130 Miyoshi muscular dystrophy 1; CN221809 not provided