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:
expand
Metabolic Diseases (D008659)
..Starting node
..expand
Mitochondrial Diseases (D028361)

       Child Nodes:
........expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
........expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
........expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
........expandAtaxia Neuropathy Spectrum (C579922)
........expandBjornstad syndrome (C537633)  LSDB  L: 00084;
........expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
........expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
........expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
........expandChildhood Myocerebrohepatopathy Spectrum (C579990)
........expandCoenzyme Q10 Deficiency (C564403)  LSDB  L: 00090;
........expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
........expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
........expandCowden-Like Syndrome (C567337)
........expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
........expandDeoxyguanosine Kinase Deficiency (C580039)
........expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
........expandFriedreich Ataxia (D005621) Child6  LSDB C:1
........expandHypermetabolism due to Defect in Mitochondria (C565498)  LSDB  L: 00406;
........expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
........expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
........expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
........expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
........expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
........expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
........expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
........expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
........expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
........expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00017;
........expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)  LSDB  L: 00023;
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)  LSDB  L: 00035;
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
........expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
........expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
........expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
........expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
........expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00043;
........expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)  LSDB  L: 00043;
........expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
........expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
........expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1
........expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
........expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
........expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
........expandParkinson Disease, Mitochondrial (C564015)
........expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)  LSDB  L: 00046;
........expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
........expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
........expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
........expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)  LSDB  L: 00412;
........expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
........expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
........expandSarcosinemia (C537236)
........expandSpinocerebellar Ataxia with Epilepsy (C564395)
........expandSuccinate-Coa Ligase Deficiency (C580473)
........expandVDAC Deficiency (C565767)
........expandVLCAD deficiency (C536353)  LSDB  L: 00436;
........expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;



 Sister Nodes: 
..expandAcid-Base Imbalance (D000137) Child42  LSDB C:10
..expandADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..expandADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..expandBrain Diseases, Metabolic (D001928) Child244  LSDB C:29
..expandCalcium Metabolism Disorders (D002128) Child94
..expandDNA Repair-Deficiency Disorders (D049914) Child95  LSDB C:1
..expandGlucose Metabolism Disorders (D044882) Child137  LSDB C:6
..expandHyperlactatemia (D065906)
..expandHypermanganesemia with Dystonia Polycythemia and Cirrhosis (C548016)
..expandIron Metabolism Disorders (D019189) Child23  LSDB C:1
..expandLipid Metabolism Disorders (D052439) Child189  LSDB C:9
..expandMalabsorption Syndromes (D008286) Child29
..expandMetabolic Syndrome X (D024821) Child1
..expandMetabolism, Inborn Errors (D008661) Child886  LSDB C:47
..expandMitochondrial Diseases (D028361) Child114  LSDB C:68
..expandPhosphorus Metabolism Disorders (D010760) Child25
..expandPorphyrias (D011164) Child18
..expandProteostasis Deficiencies (D057165) Child55
..expandSHORT syndrome (C537327)
..expandSkin Diseases, Metabolic (D012875) Child33
..expandWasting Syndrome (D019282) Child1
..expandWater-Electrolyte Imbalance (D014883) Child31
   

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 LSDB:
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