MSeqDR Mitochondrial disease browser phenotype pathogenic gene and muatation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Metabolic Diseases (D008659)
..Starting node ..Mitochondrial Diseases (D028361)
Child Nodes:
........3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784) L: 00105;
........Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006) L: 00419;
........Ataxia and Polyneuropathy, Adult-Onset (C564020)
........Ataxia Neuropathy Spectrum (C579922)
........Bjornstad syndrome (C537633) L: 00084;
........Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165) L: 00085;
........Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461) L: 00486;
........Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463) L: 00487;
........Childhood Myocerebrohepatopathy Spectrum (C579990)
........Coenzyme Q10 Deficiency (C564403) L: 00090;
........Combined Oxidative Phosphorylation Deficiency 4 (C565690) L: 00098;
........Combined Oxidative Phosphorylation Deficiency 5 (C567126) L: 00099;
........Cowden-Like Syndrome (C567337)
........Cytochrome-c Oxidase Deficiency (D030401) 2 C:2 L: 00012;
........Deoxyguanosine Kinase Deficiency (C580039)
........Finnish lethal neonatal metabolic syndrome (C537934) L: 00104;
........Friedreich Ataxia (D005621) 6 C:1
........Hypermetabolism due to Defect in Mitochondria (C565498) L: 00406;
........Hypomyelination, Global Cerebral (C567847) L: 00107;
........Hypotonia-Cystinuria Syndrome (C564710) L: 00416;
........Kearns-Sayre Syndrome (D007625) 1 L: 00143;
........Leigh Disease (D007888) 12 C:3 L: 00015;
........Leukodystrophy, Hypomyelinating, 4 (C567390) L: 00421;
........Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009) L: 00418;
........Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
........Mitochondrial complex I deficiency (C537475) L: 00011;
........Mitochondrial Complex II Deficiency (C565375) L: 00016;
........Mitochondrial Complex III Deficiency (C565128) L: 00017;
........MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273) L: 00023;
........MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880) L: 00031;
........MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700) L: 00032;
........MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810) L: 00035;
........MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400) L: 00038;
........Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
........Mitochondrial Myopathies (D017240) 33 C:22 L: 00400;
........Mitochondrial Phosphate Carrier Deficiency (C563665) L: 00040;
........Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1 L: 00439;
........Multiple Mitochondrial Dysfunctions Syndrome (C565304) L: 00043;
........MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711) L: 00043;
........Myopathy with Giant Abnormal Mitochondria (C564971) L: 00409;
........Myopathy, Cataract, Hypogonadism Syndrome (C563578)
........Navajo neurohepatopathy (C538344) 1 C:1
........Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925) L: 00410;
........Optic Atrophy, Autosomal Dominant (D029241) L: 00073;
........Optic Atrophy, Hereditary, Leber (D029242) 1 L: 00072; 00492;
........Parkinson Disease, Mitochondrial (C564015)
........Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890) L: 00046;
........Progressive External Ophthalmoplegia With Hypogonadism (C563576)
........Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575) L: 00117;
........Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768) L: 00049;
........Proximal Myopathy with Focal Depletion of Mitochondria (C563453) L: 00412;
........Pyruvate Carboxylase Deficiency Disease (D015324) 1 L: 00398;
........Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4 C:3 L: 00442;
........Sarcosinemia (C537236)
........Spinocerebellar Ataxia with Epilepsy (C564395)
........Succinate-Coa Ligase Deficiency (C580473)
........VDAC Deficiency (C565767)
........VLCAD deficiency (C536353) L: 00436;
........Wolfram Syndrome 2 (C565733) L: 00490;
Sister Nodes:
..Acid-Base Imbalance (D000137) 42 C:10
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..Brain Diseases, Metabolic (D001928) 244 C:29
..Calcium Metabolism Disorders (D002128) 94
..DNA Repair-Deficiency Disorders (D049914) 95 C:1
..Glucose Metabolism Disorders (D044882) 137 C:6
..Hyperlactatemia (D065906)
..Hypermanganesemia with Dystonia Polycythemia and Cirrhosis (C548016)
..Iron Metabolism Disorders (D019189) 23 C:1
..Lipid Metabolism Disorders (D052439) 189 C:9
..Malabsorption Syndromes (D008286) 29
..Metabolic Syndrome X (D024821) 1
..Metabolism, Inborn Errors (D008661) 886 C:47
..Mitochondrial Diseases (D028361) 114 C:68
..Phosphorus Metabolism Disorders (D010760) 25
..Porphyrias (D011164) 18
..Proteostasis Deficiencies (D057165) 55
..SHORT syndrome (C537327)
..Skin Diseases, Metabolic (D012875) 33
..Wasting Syndrome (D019282) 1
..Water-Electrolyte Imbalance (D014883) 31
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	7311
Name:	Mitochondrial Diseases
Definition:	Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Alternative IDs:
ParentIDs:	MESH:D008659
TreeNumbers:	C18.452.660
Synonyms:	Deficiencies, Oxidative Phosphorylation \|Deficiencies, Respiratory Chain \|Deficiency, Oxidative Phosphorylation \|Deficiency, Respiratory Chain \|Disease, Mitochondrial \|Disorder, Mitochondrial \|Disorders, Mitochondrial \|Electron Transport Chain Deficiencies, Mit
Slim Mappings:	Metabolic disease
Reference:	MedGen: D028361 MeSH: D028361 OMIM: MSeqDR : MSeqDR has 68 matches in descendants: 00011; 00012; 00015; 00016; 00017; 00023; 00026; 00030; 00031; 00032; 00033; 00034; 00035; 00037; 00038; 00039; 00040; 00043; 00045; 00046; 00047; 00048; 00049; 00072; 00073; 00074; 00084; 00085; 00090; 00097; 00098; 00099; 00104; 00105; 00107; 00117; 00143; 00146; 00163; 00172; 00389; 00390; 00398; 00400; 00406; 00408; 00409; 00410; 00411; 00412; 00416; 00417; 00418; 00419; 00421; 00433; 00436; 00439; 00442; 00472; 00475; 00478; 00482; 00486; 00487; 00490; 00491; 00492; Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal

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