Human Phenotype Ontology 
Grandparent Node:
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Abnormality of cell physiology (HP:0011017)help
Parent Node:
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Abnormality of the mitochondrion (HP:0012103)help
..Starting node
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Abnormality of mitochondrial metabolism (HP:0003287)help
Term ID: 3287
Name: Abnormality of mitochondrial metabolism
Synonym: Mitochondrial dysfunction
Definition: A functional anomaly of mitochondria.
Comments:
Reference: HP:0003287
Genes and Diseases:

 HPO-Disease-Gene Association for HP:0003287 and all of its descedant HPO terms  

InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameConceptIDSourceHGMD variantsClinVar variants
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0AK220433355Reticular dysgenesisORPHA1719
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0COX14512550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0COX24513550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0COX34514550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0IBA57200205615330Multiple mitochondrial dysfunctions syndrome 3C3809165OMIM1016
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0ND14535550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0ND44538550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0ND54540550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0ND64541550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0SDHD6392615106Cowden syndrome 3C3554516OMIM161129
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0TRNF4558550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0TRNH4564550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0TRNL14567550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0TRNQ4572550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0TRNS14574550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0TRNS24575550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0003287HP:0003287Abnormality of mitochondrial metabolism0TRNW4578550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0003287HP:0008265Mitochondrial lysine transport defect1
HP:0003287HP:0030059Mitochondrial depletion1
HP:0003287HP:0003288Mitochondrial propionyl-CoA carboxylase defect1
HP:0003287HP:0003234Decreased plasma carnitine1ACAD827034611283Deficiency of isobutyryl-CoA dehydrogenaseC1969809OMIM2158
HP:0003287HP:0003234Decreased plasma carnitine1ACADM34201450Medium-chain acyl-coenzyme A dehydrogenase deficiencyC0220710OMIM168197
HP:0003287HP:0003234Decreased plasma carnitine1ACADVL37201475Very long chain acyl-CoA dehydrogenase deficiencyC0342784OMIM260200
HP:0003287HP:00035353-Methylglutaconic aciduria1AGK55750212350Cataract and cardiomyopathyC1859317OMIM1982
HP:0003287HP:00035353-Methylglutaconic aciduria1ATP5E514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3C3279708OMIM17
HP:0003287HP:0200125Mitochondrial respiratory chain defects1ATP64508104Ochoa syndromeC0403555ORPHA
HP:0003287HP:00035353-Methylglutaconic aciduria1ATPAF291647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1C2700431OMIM132
HP:0003287HP:00035353-Methylglutaconic aciduria1AUH5492509503-Methylglutaconic aciduriaC0342727OMIM1149
HP:0003287HP:00035353-Methylglutaconic aciduria1AUH549670463-methylglutaconic aciduria type 1ORPHA1149
HP:0003287HP:0200125Mitochondrial respiratory chain defects1CAMKMT798231636932p21 microdeletion syndromeORPHA1
HP:0003287HP:0200125Mitochondrial respiratory chain defects1COX14512104Ochoa syndromeC0403555ORPHA
HP:0003287HP:0200125Mitochondrial respiratory chain defects1COX34514104Ochoa syndromeC0403555ORPHA
HP:0003287HP:0003234Decreased plasma carnitine1CTNS1497219800Nephropathic cystinosisC0010690OMIM141178
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1CYBA1535233690Granulomatous disease, chronic, autosomal recessive, cytochrome b-negativeC1856255OMIM7127
HP:0003287HP:0003514Deficiency or absence of cytochrome b(-245)1CYBB1536306400Chronic granulomatous disease, X-linkedC1844376OMIM751111
HP:0003287HP:0200125Mitochondrial respiratory chain defects1CYTB4519104Ochoa syndromeC0403555ORPHA
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1ETFA2108231680Glutaric aciduria, type 2C0268596OMIM2837
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1ETFB2109231680Glutaric aciduria, type 2C0268596OMIM1327
HP:0003287HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect1ETFDH2110231680Glutaric aciduria, type 2C0268596OMIM16877
HP:0003287HP:0200125Mitochondrial respiratory chain defects1FBXL426235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)C3809592OMIM34384
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1FOXRED1555722609Isolated complex I deficiencyORPHA761
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1FOXRED155572252010Mitochondrial complex I deficiencyC1838979OMIM761
HP:0003287HP:0003232Mitochondrial malic enzyme reduced1FXN2395229300Friedreich ataxia 1C1856689OMIM6518
HP:0003287HP:0100950Decreased activity of 3-hydroxyacyl-CoA dehydrogenase1HADHA3030609016Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyCN074230OMIM6899
HP:0003287HP:0003234Decreased plasma carnitine1HMGCL3155246450Deficiency of hydroxymethylglutaryl-CoA lyaseC0268601OMIM5135
HP:0003287HP:0008306Abnormal iron deposition in mitochondria1ISCU23479255125Myopathy with lactic acidosis, hereditaryC1850718OMIM219
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1ND145352609Isolated complex I deficiencyORPHA
HP:0003287HP:0200125Mitochondrial respiratory chain defects1ND14535104Ochoa syndromeC0403555ORPHA
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1ND245362609Isolated complex I deficiencyORPHA
HP:0003287HP:0200125Mitochondrial respiratory chain defects1ND24536104Ochoa syndromeC0403555ORPHA
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1ND345372609Isolated complex I deficiencyORPHA
HP:0003287HP:0200125Mitochondrial respiratory chain defects1ND44538104Ochoa syndromeC0403555ORPHA
HP:0003287HP:0200125Mitochondrial respiratory chain defects1ND4L4539104Ochoa syndromeC0403555ORPHA
HP:0003287HP:0200125Mitochondrial respiratory chain defects1ND54540104Ochoa syndromeC0403555ORPHA
HP:0003287HP:0200125Mitochondrial respiratory chain defects1ND64541104Ochoa syndromeC0403555ORPHA
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFA146942609Isolated complex I deficiencyORPHA57
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFA14694252010Mitochondrial complex I deficiencyC1838979OMIM57
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFA111263282609Isolated complex I deficiencyORPHA132
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFA11126328252010Mitochondrial complex I deficiencyC1838979OMIM132
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFAF1511032609Isolated complex I deficiencyORPHA740
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFAF151103252010Mitochondrial complex I deficiencyC1838979OMIM740
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFAF2919422609Isolated complex I deficiencyORPHA826
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFAF291942252010Mitochondrial complex I deficiencyC1838979OMIM826
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFAF3259152609Isolated complex I deficiencyORPHA531
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFAF325915252010Mitochondrial complex I deficiencyC1838979OMIM531
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFAF4290782609Isolated complex I deficiencyORPHA250
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFAF429078252010Mitochondrial complex I deficiencyC1838979OMIM250
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFAF5791332609Isolated complex I deficiencyORPHA1034
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFAF579133252010Mitochondrial complex I deficiencyC1838979OMIM1034
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFB347092609Isolated complex I deficiencyORPHA29
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFB34709252010Mitochondrial complex I deficiencyC1838979OMIM29
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFB947152609Isolated complex I deficiencyORPHA216
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFB94715252010Mitochondrial complex I deficiencyC1838979OMIM216
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFS147192609Isolated complex I deficiencyORPHA1981
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFS14719252010Mitochondrial complex I deficiencyC1838979OMIM1981
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFS247202609Isolated complex I deficiencyORPHA2265
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFS24720252010Mitochondrial complex I deficiencyC1838979OMIM2265
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFS347222609Isolated complex I deficiencyORPHA322
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFS34722252010Mitochondrial complex I deficiencyC1838979OMIM322
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFS447242609Isolated complex I deficiencyORPHA1627
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFS44724252010Mitochondrial complex I deficiencyC1838979OMIM1627
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFS647262609Isolated complex I deficiencyORPHA421
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFS64726252010Mitochondrial complex I deficiencyC1838979OMIM421
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFS73742912609Isolated complex I deficiencyORPHA838
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFS847282609Isolated complex I deficiencyORPHA1242
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFV147232609Isolated complex I deficiencyORPHA3274
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFV14723252010Mitochondrial complex I deficiencyC1838979OMIM3274
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFV247292609Isolated complex I deficiencyORPHA427
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NDUFV24729252010Mitochondrial complex I deficiencyC1838979OMIM427
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NUBPL802242609Isolated complex I deficiencyORPHA989
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1NUBPL80224252010Mitochondrial complex I deficiencyC1838979OMIM989
HP:0003287HP:00035353-Methylglutaconic aciduria1OPA380207670473-methylglutaconic aciduria type 3ORPHA15163
HP:0003287HP:00035353-Methylglutaconic aciduria1OPA3802072585013-Methylglutaconic aciduria type 3C0574084OMIM15163
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1PDHA15160312170Pyruvate dehydrogenase E1-alpha deficiencyC1839414OMIM16888
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1PDHX8050245349Pyruvate dehydrogenase E3-binding protein deficiencyC1855553OMIM2298
HP:0003287HP:0002928Decreased activity of the pyruvate dehydrogenase complex1PDP154704608782Pyruvate dehydrogenase phosphatase deficiencyC1837429OMIM252
HP:0003287HP:00035353-Methylglutaconic aciduria1POLG5428203700Progressive sclerosing poliodystrophyC0205710OMIM277464
HP:0003287HP:0200125Mitochondrial respiratory chain defects1PPM1B54951636932p21 microdeletion syndromeORPHA
HP:0003287HP:0200125Mitochondrial respiratory chain defects1PREPL95811636932p21 microdeletion syndromeORPHA87
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1SDHA6389252011Mitochondrial complex II deficiencyC1855008OMIM44304
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1SDHAF1644096252011Mitochondrial complex II deficiencyC1855008OMIM616
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1SDHD6392252011Mitochondrial complex II deficiencyC1855008OMIM161129
HP:0003287HP:00035353-Methylglutaconic aciduria1SERAC1849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeC3553597OMIM2347
HP:0003287HP:0003234Decreased plasma carnitine1SLC22A56584212140Renal carnitine transport defectC0342788OMIM121207
HP:0003287HP:0200125Mitochondrial respiratory chain defects1SLC3A165191636932p21 microdeletion syndromeORPHA17755
HP:0003287HP:00035353-Methylglutaconic aciduria1TAZ69013020603-Methylglutaconic aciduria type 2C0574083OMIM15087
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1TMEM126B558632609Isolated complex I deficiencyORPHA44
HP:0003287HP:0008316Abnormal mitochondria in muscle tissue1TMEM126B55863252010Mitochondrial complex I deficiencyC1838979OMIM44
HP:0003287HP:00035353-Methylglutaconic aciduria1TMEM7054968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2C3279699OMIM1863
HP:0003287HP:00035353-Methylglutaconic aciduria1TMEM70549681194TMEM70-related mitochondrial encephalo-cardio-myopathyORPHA1863
HP:0003287HP:0011922Abnormal activity of mitochondrial respiratory chain1TRMT557570616539Combined oxidative phosphorylation deficiency 26C4225290OMIM34
HP:0003287HP:0200125Mitochondrial respiratory chain defects1TRMU55687613070Liver failure acute infantileC2751567OMIM16101
HP:0003287HP:0040015Increased activity of mitochondrial respiratory chain2
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2BOLA3388962614299Multiple mitochondrial dysfunctions syndrome 2C3280378OMIM514
HP:0003287HP:0011936Decreased plasma total carnitine2CPT21376608836Carnitine palmitoyltransferase II deficiency, lethal neonatalC1833518OMIM104101
HP:0003287HP:0008315Decreased plasma free carnitine2CPT21376608836Carnitine palmitoyltransferase II deficiency, lethal neonatalC1833518OMIM104101
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2DGUOK1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebralC3151513OMIM6057
HP:0003287HP:00033443-Methylglutaric aciduria2DNAJC191311186101983-methylglutaconic aciduria type VC1857776OMIM325
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2GFER2671613076Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delayC2751320OMIM514
HP:0003287HP:00033443-Methylglutaric aciduria2HMGCL3155246450Deficiency of hydroxymethylglutaryl-CoA lyaseC0268601OMIM5135
HP:0003287HP:0008315Decreased plasma free carnitine2NADK21336866160342,4-Dienoyl-CoA reductase deficiencyC1857252OMIM214
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2NFU127247605711Multiple mitochondrial dysfunctions syndrome 1C1854052OMIM1334
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2SUCLA28803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)C2749864OMIM2766
HP:0003287HP:0008972Decreased activity of mitochondrial respiratory chain2TK27084609560Mitochondrial DNA depletion syndrome 2C3149750OMIM44103
HP:0003287HP:0011925Decreased activity of mitochondrial ATP synthase complex3ATP5E514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3C3279708OMIM17
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3EARS2124454614924Combined oxidative phosphorylation deficiency 12C3554079OMIM2780
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3EARS2124454614924Combined oxidative phosphorylation deficiency 12C3554079OMIM2780
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3EARS2124454614924Combined oxidative phosphorylation deficiency 12C3554079OMIM2780
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3ISCU23479255125Myopathy with lactic acidosis, hereditaryC1850718OMIM219
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3ISCU23479255125Myopathy with lactic acidosis, hereditaryC1850718OMIM219
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3ISCU23479255125Myopathy with lactic acidosis, hereditaryC1850718OMIM219
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3SDHA6389252011Mitochondrial complex II deficiencyC1855008OMIM44304
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3SDHAF1644096252011Mitochondrial complex II deficiencyC1855008OMIM616
HP:0003287HP:0008314Decreased activity of mitochondrial complex II3SDHD6392252011Mitochondrial complex II deficiencyC1855008OMIM161129
HP:0003287HP:0011924Decreased activity of mitochondrial complex III3TSFM10102610505Combined oxidative phosphorylation deficiency 3C1864840OMIM743
HP:0003287HP:0008347Decreased activity of mitochondrial complex IV3TSFM10102610505Combined oxidative phosphorylation deficiency 3C1864840OMIM743
HP:0003287HP:0011923Decreased activity of mitochondrial complex I3TSFM10102610505Combined oxidative phosphorylation deficiency 3C1864840OMIM743
Note: The variant numbers are the total numbers per gene, not limited to the listed diseases or phenotypes.

Genes (89) :ACAD8 ACADM ACADVL AGK AK2 ATP5E ATP6 ATPAF2 AUH BOLA3 CAMKMT COX1 COX2 COX3 CPT2 CTNS CYBA CYBB CYTB DGUOK DNAJC19 EARS2 ETFA ETFB ETFDH FBXL4 FOXRED1 FXN GFER HADHA HMGCL IBA57 ISCU NADK2 ND1 ND2 ND3 ND4 ND4L ND5 ND6 NDUFA1 NDUFA11 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NUBPL OPA3 PDHA1 PDHX PDP1 POLG PPM1B PREPL SDHA SDHAF1 SDHD SERAC1 SLC22A5 SLC3A1 SUCLA2 TAZ TK2 TMEM126B TMEM70 TRMT5 TRMU TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSFM

Diseases (50) :33355 550 615330 615106 611283 201450 201475 212350 614053 104 604273 250950 67046 163693 219800 233690 306400 231680 615471 2609 252010 229300 609016 246450 255125 67047 258501 312170 245349 608782 203700 252011 614739 212140 302060 614052 1194 616539 613070 614299 608836 251880 610198 613076 616034 605711 612073 609560 614924 610505
 
       Child Nodes:
........expandDecreased activity of the pyruvate dehydrogenase complex (HP:0002928) help
........expandMitochondrial malic enzyme reduced (HP:0003232) help
........expandDecreased plasma carnitine (HP:0003234) help
................... HP:0008315 Decreased plasma free carnitine
................... HP:0011936 Decreased plasma total carnitine
........expandMitochondrial propionyl-CoA carboxylase defect (HP:0003288) help
........expandDeficiency or absence of cytochrome b(-245) (HP:0003514) help
........expand3-Methylglutaconic aciduria (HP:0003535) help
................... HP:0003344 3-Methylglutaric aciduria
........expandElectron transfer flavoprotein-ubiquinone oxidoreductase defect (HP:0003647) help
........expandMitochondrial lysine transport defect (HP:0008265) help
........expandAbnormal iron deposition in mitochondria (HP:0008306) help
........expandAbnormal mitochondria in muscle tissue (HP:0008316) help
........expandAbnormal activity of mitochondrial respiratory chain (HP:0011922) help
................... HP:0008972 Decreased activity of mitochondrial respiratory chain
................... HP:0040015 Increased activity of mitochondrial respiratory chain
........expandMitochondrial depletion (HP:0030059) help
........expandLong chain 3 hydroxyacyl coA dehydrogenase deficiency (HP:0100950) help
........expandMitochondrial respiratory chain defects (HP:0200125) help

 Sister Nodes: 
..expandAbnormal mitochondrial morphology (HP:0008322) help
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is Feb. 201702 release.