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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: Muscular Diseases (D009135)
..Starting node ..Myopathy, Myosin Storage (C564253)
Child Nodes:
Sister Nodes:
..Alpha-B Crystallinopathy (C563848)
..Anal Sphincter Myopathy, Internal (C566287)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Arthrogryposis (D001176) 55
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Compartment Syndromes (D003161) 3
..Contracture (D003286) 41
..Craniomandibular Disorders (D017271) 4
..Dimauro disease (C536176)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Eosinophilia-Myalgia Syndrome (D016603)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Erythrocyte Amp Deaminase Deficiency (C567878)
..Erythrocyte Lactate Transporter Defect (C565449)
..Fatigue Syndrome, Chronic (D015673)
..Fibromyalgia (D005356)
..Fingerprint Body Myopathy (C564425)
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Hypertrophia Musculorum Vera (C564152)
..Isaacs Syndrome (D020386)
..Kocher-Debre-Semelaigne syndrome (C537211)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Medial Tibial Stress Syndrome (D058923)
..Mesoectodermal dysplasia (C538472)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Muscle Cramp (D009120) 3
..Muscle Neoplasms (D019042)
..Muscle Rigidity (D009127) 3
..Muscle Spasticity (D009128) 17
..Muscle Weakness (D018908) 5
..Muscular Disorders, Atrophic (D020966) 120
..Muscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..Musculoskeletal Pain (D059352) 2
..Myalgia (D063806)
..Myofascial Pain Syndromes (D009209) 1
..Myopathic carnitine deficiency (C536100)
..Myopathies, Structural, Congenital (D020914) 34
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy with Lactic Acidosis, Hereditary (C564972)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Myopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..Myopathy, Hyaline Body, Autosomal Recessive (C564970)
..MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
..MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
..MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
..Myopathy, Myosin Storage (C564253)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myositis (D009220) 16
..Myostatin-related muscle hypertrophy (C536106)
..Myotonic Disorders (D020967) 10
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Paralyses, Familial Periodic (D010245) 7
..Pectoralis Muscle, Absence of (C566793)
..Polymyalgia Rheumatica (D011111)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Rhabdomyolysis (D012206) 6
..Rippling muscle disease, 1 (C535686)
..Salih Myopathy (C580430)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Singleton Merten syndrome (C537343)
..Systemic carnitine deficiency (C536778)
..Tel Hashomer camptodactyly syndrome (C536953)
..Tendinopathy (D052256) 5
..Treft Sanborn Carey syndrome (C536544)
..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
..Vacuolar myopathy (C536522)
..VLCAD deficiency (C536353)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7694

Name:

Myopathy, Myosin Storage

Definition:

Alternative IDs:

OMIM:608358

ParentIDs:

MESH:D009135

TreeNumbers:

C05.651/C564253 |C10.668.491/C564253

Synonyms:

Myopathy, Hyaline Body, Autosomal Dominant |MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS

Slim Mappings:

Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C564253
MeSH: C564253
OMIM: 608358;

Genes: MYH7;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003674	Onset
3	HP:0001626	Abnormality of the cardiovascular system
4	HP:0003707	Calf muscle pseudohypertrophy
5	HP:0003687	Centrally nucleated skeletal muscle fibers
6	HP:0003236	Elevated circulating creatine kinase concentration
7	HP:0003458	EMG: myopathic abnormalities
8	HP:0009055	Generalized limb muscle atrophy
9	HP:0003324	Generalized muscle weakness
10	HP:0002792	Reduced vital capacity
11	HP:0003691	Scapular winging
12	HP:0003697	Scapuloperoneal amyotrophy
13	HP:0003704	Scapuloperoneal weakness
14	HP:0003677	Slowly progressive
15	HP:0003803	Type 1 muscle fiber predominance
16	HP:0002515	Waddling gait

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_000257.3(MYH7):c.5702A>T (p.His1901Leu)	4625	MYH7	Pathogenic	121913649	RCV000015174;	N	MedGen:C1842160,OMIM:608358,SNOMED CT:699267007	14	23883056	23883056	NM_000257.3:c.5702A>T	NP_000248.2:p.His1901Leu	NC_000014.8:g.23883056T>A	OMIM Allelic Variant:160760.0031	C1842160 608358 Myosin storage myopathy
NM_000257.3(MYH7):c.5533C>T (p.Arg1845Trp)	4625	MYH7	Pathogenic	28933098	RCV000015170; RCV000015171;	N	Gene:8090,MedGen:CN074265,OMIM:181430; MedGen:C1842160,OMIM:608358,SNOMED CT:699267007	14	23884230	23884230	NM_000257.3:c.5533C>T	NP_000248.2:p.Arg1845Trp	NC_000014.8:g.23884230G>A	OMIM Allelic Variant:160760.0028	C1842160 608358 Myosin storage myopathy; CN074265 181430 Scapuloperoneal myopathy, MYH7-related
NM_000257.3(MYH7):c.5378T>C (p.Leu1793Pro)	4625	MYH7	Pathogenic	121913654	RCV000015181; RCV000015183; RCV000015182; RCV000158696;	N	MedGen:C1842160,OMIM:608358,SNOMED CT:699267007; MedGen:C3150690; MedGen:C3495498,OMIM:192600; MedGen:CN221809	14	23884385	23884385	NM_000257.3:c.5378T>C	NP_000248.2:p.Leu1793Pro	NC_000014.8:g.23884385A>G	OMIM Allelic Variant:160760.0037	C3495498 192600 Familial hypertrophic cardiomyopathy 1; C3150690 Left ventricular noncompaction 5; C1842160 608358 Myosin storage myopathy; CN221809 not provided
NM_000257.3(MYH7):c.1544T>C (p.Met515Thr)	4625	MYH7	Likely pathogenic	863224900	RCV000196427;	N	Gene:8090,MedGen:CN074265,OMIM:181430; MedGen:C1834481,OMIM:613426; MedGen:C1842160,OMIM:608358,SNOMED CT:699267007; MedGen:C3495498,OMIM:192600; MedGen:CN074249,OMIM:160500	14	23897743	23897743	NM_000257.3:c.1544T>C	NP_000248.2:p.Met515Thr	NC_000014.8:g.23897743A>G	-	C1834481 613426 Dilated cardiomyopathy 1S; C3495498 192600 Familial hypertrophic cardiomyopathy 1; CN074249 160500 Myopathy, distal, 1; C1842160 608358 Myosin storage myopathy; CN074265 181430 Scapuloperoneal myopathy, MYH7-related