Human Phenotype Ontology 
Grandparent Node:
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Abnormality of acid-base homeostasis (HP:0004360)help
Parent Node:
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Acidosis (HP:0001941)help
..Starting node
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Lactic acidosis (HP:0003128)help
Term ID: 3128
Name: Lactic acidosis
Synonym: Hyperlacticacidemia; Increased lactate in body; Lactic acidemia; Lacticacidemia; Lacticacidosis
Definition: An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Comments:
Reference: HP:0003128
Genes and Diseases:
 
       Child Nodes:
........expandLacticaciduria (HP:0003648) help
........expandStress/infection-induced lactic acidosis (HP:0004897) help
........expandPersistent lactic acidosis (HP:0004898) help
........expandSevere lactic acidosis (HP:0004900) help
........expandExercise-induced lactic acidemia (HP:0004901) help
........expandCongenital lactic acidosis (HP:0004902) help
........expandIntermittent lactic acidemia (HP:0004913) help
........expandChronic lactic acidosis (HP:0004925) help

 Sister Nodes: 
..expandChronic acidosis (HP:0012468) help
..expandDicarboxylic acidemia (HP:0040145) help
..expandElevated circulating glutaric acid concentration (HP:0003530) help
..expandHyperchloremic acidosis (HP:0001995) help
..expandIncreased serum lactate (HP:0002151) help
..expandKetoacidosis (HP:0001993) help
..expandMetabolic acidosis (HP:0001942) help
..expandMethylmalonic acidemia (HP:0002912) help
..expandOroticaciduria (HP:0003218) help
..expandPhenylpyruvic acidemia (HP:0004920) help
..expandPropionic acidemia (HP:0003571) help
..expandRenal tubular acidosis (HP:0001947) help
..expandRespiratory acidosis (HP:0005972) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003128HP:0003128Lactic acidosis0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8.143
HP:0003128HP:0003128Lactic acidosis0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040282 - Frequent98
HP:0003128HP:0003128Lactic acidosis0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency.98
HP:0003128HP:0003128Lactic acidosis0AGK CL E G H5575021869ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040281 - Very frequent82
HP:0003128HP:0003128Lactic acidosis0AGK CL E G H5575021869OMIM:212350Sengers syndrome82
HP:0003128HP:0003128Lactic acidosis0ALDH7A1 CL E G H501877ORPHA:3006Pyridoxine-dependent epilepsyHP:0040284 - Very rare227
HP:0003128HP:0003128Lactic acidosis0ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary.73
HP:0003128HP:0003128Lactic acidosis0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5.
HP:0003128HP:0003128Lactic acidosis0ATP5F1E CL E G H514838OMIM:614053Mitochondrial complex V (atp synthase) deficiency, nuclear type 3.HP:0003623 - Neonatal onset
HP:0003128HP:0003128Lactic acidosis0BCKDHA CL E G H593986OMIM:248600Maple syrup urine disease.120
HP:0003128HP:0003128Lactic acidosis0BCKDHB CL E G H594987OMIM:248600Maple syrup urine disease.162
HP:0003128HP:0003128Lactic acidosis0BCS1L CL E G H6171020ORPHA:53693GRACILE syndromeHP:0040281 - Very frequent72
HP:0003128HP:0003128Lactic acidosis0BCS1L CL E G H6171020OMIM:603358GRACILE SYNDROME72
HP:0003128HP:0003128Lactic acidosis0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0003128HP:0003128Lactic acidosis0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.14
HP:0003128HP:0003128Lactic acidosis0CA5A CL E G H7631377OMIM:615751Hyperammonemia due to carbonic anhydrase VA deficiency.10
HP:0003128HP:0003128Lactic acidosis0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040282 - Frequent1
HP:0003128HP:0003128Lactic acidosis0COA6 CL E G H38875318025OMIM:616501CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX48
HP:0003128HP:0003128Lactic acidosis0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0003128HP:0003128Lactic acidosis0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0003128HP:0003128Lactic acidosis0COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndrome54
HP:0003128HP:0003128Lactic acidosis0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040283 - Occasional136
HP:0003128HP:0003128Lactic acidosis0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4.136
HP:0003128HP:0003128Lactic acidosis0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 5.44
HP:0003128HP:0003128Lactic acidosis0COX1 CL E G H45127419ORPHA:550MELASHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0003128HP:0003128Lactic acidosis0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0003128HP:0003128Lactic acidosis0COX2 CL E G H45137421ORPHA:550MELASHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0COX3 CL E G H45147422ORPHA:550MELASHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0003128HP:0003128Lactic acidosis0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0003128HP:0003128Lactic acidosis0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 6.12
HP:0003128HP:0003128Lactic acidosis0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040284 - Very rare
HP:0003128HP:0003128Lactic acidosis0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0DBT CL E G H16292698OMIM:248600Maple syrup urine disease.156
HP:0003128HP:0003128Lactic acidosis0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0003128HP:0003128Lactic acidosis0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0003128HP:0003128Lactic acidosis0DLD CL E G H17382898OMIM:246900Dihydrolipoamide dehydrogenase deficiency.89
HP:0003128HP:0003128Lactic acidosis0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiencyHP:0040281 - Very frequent89
HP:0003128HP:0003128Lactic acidosis0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0003128HP:0003128Lactic acidosis0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0003128HP:0003128Lactic acidosis0ELAC2 CL E G H6052814198OMIM:615440Combined oxidative phosphorylation deficiency 17.67
HP:0003128HP:0003128Lactic acidosis0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0003128HP:0003128Lactic acidosis0ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathyHP:0040282 - Frequent42
HP:0003128HP:0003128Lactic acidosis0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 14.36
HP:0003128HP:0003128Lactic acidosis0FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiencyHP:0040281 - Very frequent64
HP:0003128HP:0003128Lactic acidosis0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0003128HP:0003128Lactic acidosis0FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0003128HP:0003128Lactic acidosis0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0003128HP:0003128Lactic acidosis0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 19.61
HP:0003128HP:0003128Lactic acidosis0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0003128HP:0003128Lactic acidosis0GATB CL E G H51888849OMIM:618838COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0003128HP:0003128Lactic acidosis0GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0003128HP:0003128Lactic acidosis0GFER CL E G H26714236ORPHA:330054Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromeHP:0040282 - Frequent14
HP:0003128HP:0003128Lactic acidosis0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040281 - Very frequent30
HP:0003128HP:0003128Lactic acidosis0GTPBP3 CL E G H8470514880OMIM:616198Combined oxidative phosphorylation deficiency 23.30
HP:0003128HP:0003128Lactic acidosis0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional41
HP:0003128HP:0003128Lactic acidosis0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency99
HP:0003128HP:0003128Lactic acidosis0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency60
HP:0003128HP:0003128Lactic acidosis0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040282 - Frequent19
HP:0003128HP:0003128Lactic acidosis0HSD17B10 CL E G H30284800ORPHA:391457HSD10 disease, neonatal typeHP:0040281 - Very frequent19
HP:0003128HP:0003128Lactic acidosis0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0003128HP:0003128Lactic acidosis0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0003128HP:0003128Lactic acidosis0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type.19
HP:0003128HP:0003128Lactic acidosis0LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1.
HP:0003128HP:0003128Lactic acidosis0LARS2 CL E G H2339517095OMIM:617021Hydrops, lactic acidosis, and sideroblastic anemia.54
HP:0003128HP:0003128Lactic acidosis0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures.31
HP:0003128HP:0003128Lactic acidosis0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0003128HP:0003128Lactic acidosis0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency.21
HP:0003128HP:0003128Lactic acidosis0LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities.2
HP:0003128HP:0003128Lactic acidosis0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040282 - Frequent8
HP:0003128HP:0003128Lactic acidosis0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040281 - Very frequent191
HP:0003128HP:0003128Lactic acidosis0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0003128HP:0003128Lactic acidosis0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 19.4
HP:0003128HP:0003128Lactic acidosis0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0003128HP:0003128Lactic acidosis0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease
HP:0003128HP:0003128Lactic acidosis0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0003128HP:0003128Lactic acidosis0MIPEP CL E G H42857104OMIM:617228Combined oxidative phosphorylation deficiency 31.7
HP:0003128HP:0003128Lactic acidosis0MLYCD CL E G H234177150OMIM:248360Malonyl-CoA decarboxylase deficiency.80
HP:0003128HP:0003128Lactic acidosis0MPC1 CL E G H5166021606OMIM:614741Mitochondrial pyruvate carrier deficiency.6
HP:0003128HP:0003128Lactic acidosis0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0003128HP:0003128Lactic acidosis0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38.
HP:0003128HP:0003128Lactic acidosis0MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 2.60
HP:0003128HP:0003128Lactic acidosis0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0003128HP:0003128Lactic acidosis0MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 34.12
HP:0003128HP:0003128Lactic acidosis0MTO1 CL E G H2582119261OMIM:614702Combined oxidative phosphorylation deficiency 10.39
HP:0003128HP:0003128Lactic acidosis0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency14
HP:0003128HP:0003128Lactic acidosis0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1.9
HP:0003128HP:0003128Lactic acidosis0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0ND1 CL E G H45357455ORPHA:550MELASHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0ND4 CL E G H45387459ORPHA:550MELASHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0ND5 CL E G H45407461ORPHA:550MELASHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0ND6 CL E G H45417462ORPHA:550MELASHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent7
HP:0003128HP:0003128Lactic acidosis0NDUFA10 CL E G H47057684OMIM:618243Mitochondrial complex I deficiency, nuclear type 22.91
HP:0003128HP:0003128Lactic acidosis0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent32
HP:0003128HP:0003128Lactic acidosis0NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 14.32
HP:0003128HP:0003128Lactic acidosis0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0003128HP:0003128Lactic acidosis0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0003128HP:0003128Lactic acidosis0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0003128HP:0003128Lactic acidosis0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0003128HP:0003128Lactic acidosis0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent40
HP:0003128HP:0003128Lactic acidosis0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent26
HP:0003128HP:0003128Lactic acidosis0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent31
HP:0003128HP:0003128Lactic acidosis0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 18.31
HP:0003128HP:0003128Lactic acidosis0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent50
HP:0003128HP:0003128Lactic acidosis0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent34
HP:0003128HP:0003128Lactic acidosis0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0003128HP:0003128Lactic acidosis0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 17.39
HP:0003128HP:0003128Lactic acidosis0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0NDUFAF8 CL E G H28418433551OMIM:618776MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0003128HP:0003128Lactic acidosis0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0003128HP:0003128Lactic acidosis0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent3
HP:0003128HP:0003128Lactic acidosis0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent9
HP:0003128HP:0003128Lactic acidosis0NDUFB3 CL E G H47097698OMIM:618246Mitochondrial complex I deficiency, nuclear type 25.9
HP:0003128HP:0003128Lactic acidosis0NDUFB7 CL E G H47137702OMIM:620135
HP:0003128HP:0003128Lactic acidosis0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent16
HP:0003128HP:0003128Lactic acidosis0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent81
HP:0003128HP:0003128Lactic acidosis0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0003128HP:0003128Lactic acidosis0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent65
HP:0003128HP:0003128Lactic acidosis0NDUFS2 CL E G H47207708OMIM:618228Mitochondrial complex I deficiency, nuclear type 6.65
HP:0003128HP:0003128Lactic acidosis0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent22
HP:0003128HP:0003128Lactic acidosis0NDUFS3 CL E G H47227710OMIM:618230Mitochondrial complex I deficiency, nuclear type 8.22
HP:0003128HP:0003128Lactic acidosis0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0003128HP:0003128Lactic acidosis0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0003128HP:0003128Lactic acidosis0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent21
HP:0003128HP:0003128Lactic acidosis0NDUFS6 CL E G H47267713OMIM:618232Mitochondrial complex I deficiency, nuclear type 9.21
HP:0003128HP:0003128Lactic acidosis0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent38
HP:0003128HP:0003128Lactic acidosis0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent42
HP:0003128HP:0003128Lactic acidosis0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent74
HP:0003128HP:0003128Lactic acidosis0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0003128HP:0003128Lactic acidosis0NDUFV2 CL E G H47297717OMIM:618229Mitochondrial complex I deficiency, nuclear type 7.27
HP:0003128HP:0003128Lactic acidosis0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 1.34
HP:0003128HP:0003128Lactic acidosis0NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0003128HP:0003128Lactic acidosis0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent89
HP:0003128HP:0003128Lactic acidosis0OGDH CL E G H49678124OMIM:203740Alpha-Ketoglutarate dehydrogenase deficiency
HP:0003128HP:0003128Lactic acidosis0PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency.118
HP:0003128HP:0003128Lactic acidosis0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0003128HP:0003128Lactic acidosis0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0003128HP:0003128Lactic acidosis0PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic.53
HP:0003128HP:0003128Lactic acidosis0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0003128HP:0003128Lactic acidosis0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040282 - Frequent88
HP:0003128HP:0003128Lactic acidosis0PDHB CL E G H51628808ORPHA:255138Pyruvate dehydrogenase E1-beta deficiencyHP:0040282 - Frequent37
HP:0003128HP:0003128Lactic acidosis0PDHB CL E G H51628808OMIM:614111PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD37
HP:0003128HP:0003128Lactic acidosis0PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency.98
HP:0003128HP:0003128Lactic acidosis0PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiencyHP:0040282 - Frequent98
HP:0003128HP:0003128Lactic acidosis0PDP1 CL E G H547049279OMIM:608782Pyruvate dehydrogenase phosphatase deficiency.52
HP:0003128HP:0003128Lactic acidosis0PDP1 CL E G H547049279ORPHA:79246Pyruvate dehydrogenase phosphatase deficiencyHP:0040282 - Frequent52
HP:0003128HP:0003128Lactic acidosis0PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndrome54
HP:0003128HP:0003128Lactic acidosis0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0003128HP:0003128Lactic acidosis0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040284 - Very rare54
HP:0003128HP:0003128Lactic acidosis0PHKA2 CL E G H52568926OMIM:306000Glycogen storage disease ixa54
HP:0003128HP:0003128Lactic acidosis0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0003128HP:0003128Lactic acidosis0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040284 - Very rare48
HP:0003128HP:0003128Lactic acidosis0PHKG2 CL E G H52618931OMIM:613027Glycogen storage disease IXc.48
HP:0003128HP:0003128Lactic acidosis0PLPBP CL E G H112129457ORPHA:3006Pyridoxine-dependent epilepsyHP:0040284 - Very rare6
HP:0003128HP:0003128Lactic acidosis0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040283 - Occasional7
HP:0003128HP:0003128Lactic acidosis0PNPLA8 CL E G H5064028900OMIM:251950Mitochondrial myopathy with lactic acidosis.3
HP:0003128HP:0003128Lactic acidosis0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0003128HP:0003128Lactic acidosis0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0003128HP:0003128Lactic acidosis0PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndromeHP:0040282 - Frequent
HP:0003128HP:0003128Lactic acidosis0PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndromeHP:0040282 - Frequent7
HP:0003128HP:0003128Lactic acidosis0PUS1 CL E G H8032415508ORPHA:2598Mitochondrial myopathy and sideroblastic anemiaHP:0040281 - Very frequent57
HP:0003128HP:0003128Lactic acidosis0PUS1 CL E G H8032415508OMIM:600462Myopathy, lactic acidosis, and sideroblastic anemia 1.57
HP:0003128HP:0003128Lactic acidosis0PYGL CL E G H58369725ORPHA:369Glycogen storage disease due to liver glycogen phosphorylase deficiency71
HP:0003128HP:0003128Lactic acidosis0QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0003128HP:0003128Lactic acidosis0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0003128HP:0003128Lactic acidosis0RRM2B CL E G H5048417296OMIM:612075Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy).125
HP:0003128HP:0003128Lactic acidosis0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent125
HP:0003128HP:0003128Lactic acidosis0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040283 - Occasional1200
HP:0003128HP:0003128Lactic acidosis0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1.40
HP:0003128HP:0003128Lactic acidosis0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency304
HP:0003128HP:0003128Lactic acidosis0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0003128HP:0003128Lactic acidosis0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0003128HP:0003128Lactic acidosis0SFXN4 CL E G H11955916088OMIM:615578Combined oxidative phosphorylation deficiency 18.17
HP:0003128HP:0003128Lactic acidosis0SLC25A13 CL E G H1016510983ORPHA:247598Neonatal intrahepatic cholestasis due to citrin deficiencyHP:0040281 - Very frequent82
HP:0003128HP:0003128Lactic acidosis0SLC25A19 CL E G H6038614409OMIM:607196Microcephaly, Amish type.36
HP:0003128HP:0003128Lactic acidosis0SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0003128HP:0003128Lactic acidosis0SLC25A3 CL E G H525010989ORPHA:91130Cardiomyopathy-hypotonia-lactic acidosis syndromeHP:0040281 - Very frequent35
HP:0003128HP:0003128Lactic acidosis0SLC25A3 CL E G H525010989OMIM:610773MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY35
HP:0003128HP:0003128Lactic acidosis0SLC25A4 CL E G H29110990ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040281 - Very frequent68
HP:0003128HP:0003128Lactic acidosis0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type).68
HP:0003128HP:0003128Lactic acidosis0SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant.68
HP:0003128HP:0003128Lactic acidosis0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.1
HP:0003128HP:0003128Lactic acidosis0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040281 - Very frequent110
HP:0003128HP:0003128Lactic acidosis0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0003128HP:0003128Lactic acidosis0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0003128HP:0003128Lactic acidosis0SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndromeHP:0040282 - Frequent55
HP:0003128HP:0003128Lactic acidosis0SLC52A1 CL E G H5506530225OMIM:615026Riboflavin deficiency3
HP:0003128HP:0003128Lactic acidosis0SQOR CL E G H5847220390OMIM:619221SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0003128HP:0003128Lactic acidosis0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0003128HP:0003128Lactic acidosis0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040282 - Frequent60
HP:0003128HP:0003128Lactic acidosis0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0003128HP:0003128Lactic acidosis0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0003128HP:0003128Lactic acidosis0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome
HP:0003128HP:0003128Lactic acidosis0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.12
HP:0003128HP:0003128Lactic acidosis0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0003128HP:0003128Lactic acidosis0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0003128HP:0003128Lactic acidosis0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0003128HP:0003128Lactic acidosis0TKFC CL E G H2600724552ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0003128HP:0003128Lactic acidosis0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent4
HP:0003128HP:0003128Lactic acidosis0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0003128HP:0003128Lactic acidosis0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type).21
HP:0003128HP:0003128Lactic acidosis0TRMT10C CL E G H5493126022OMIM:616974Combined oxidative phosphorylation deficiency 30.3
HP:0003128HP:0003128Lactic acidosis0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0003128HP:0003128Lactic acidosis0TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient.101
HP:0003128HP:0003128Lactic acidosis0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency101
HP:0003128HP:0003128Lactic acidosis0TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0003128HP:0003128Lactic acidosis0TRNF CL E G H45587481ORPHA:550MELASHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0TRNH CL E G H45647487ORPHA:550MELASHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0003128HP:0003128Lactic acidosis0TRNQ CL E G H45727495ORPHA:550MELASHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0003128HP:0003128Lactic acidosis0TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0TRNT CL E G H45767499ORPHA:254857Lethal infantile mitochondrial myopathy
HP:0003128HP:0003128Lactic acidosis0TRNT CL E G H45767499OMIM:551000Myopathy, mitochondrial, lethal infantile.
HP:0003128HP:0003128Lactic acidosis0TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0003128HP:0003128Lactic acidosis0TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0TRNW CL E G H45787501ORPHA:550MELASHP:0040281 - Very frequent
HP:0003128HP:0003128Lactic acidosis0TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0003128HP:0003128Lactic acidosis0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0003128HP:0003128Lactic acidosis0TUFM CL E G H728412420OMIM:610678Combined oxidative phosphorylation deficiency 455
HP:0003128HP:0003128Lactic acidosis0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0003128HP:0003128Lactic acidosis0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent138
HP:0003128HP:0003128Lactic acidosis0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0003128HP:0003128Lactic acidosis0UQCC3 CL E G H79095534399OMIM:616111Mitochondrial complex III deficiency, nuclear type 9.6
HP:0003128HP:0003128Lactic acidosis0UQCRFS1 CL E G H738612587OMIM:618775MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0003128HP:0003128Lactic acidosis0USP18 CL E G H1127412616OMIM:617397Pseudo-Torch syndrome 2.2
HP:0003128HP:0003128Lactic acidosis0VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 2056
HP:0003128HP:0003128Lactic acidosis0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0003128HP:0003128Lactic acidosis0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040282 - Frequent2
HP:0003128HP:0003128Lactic acidosis0YARS2 CL E G H5106724249ORPHA:2598Mitochondrial myopathy and sideroblastic anemiaHP:0040281 - Very frequent45
HP:0003128HP:0003128Lactic acidosis0YARS2 CL E G H5106724249OMIM:613561Myopathy, lactic acidosis, and sideroblastic anemia 2.45
HP:0003128HP:0004898Persistent lactic acidosis1 CL E G H
HP:0003128HP:0004901Exercise-induced lactic acidemia1AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0003128HP:0004925Chronic lactic acidosis1BCS1L CL E G H6171020OMIM:603358GRACILE SYNDROME72
HP:0003128HP:0004900Severe lactic acidosis1BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0003128HP:0004900Severe lactic acidosis1COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040282 - Frequent54
HP:0003128HP:0004900Severe lactic acidosis1COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0003128HP:0004913Intermittent lactic acidemia1FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiencyHP:0040282 - Frequent64
HP:0003128HP:0004902Congenital lactic acidosis1LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040282 - Frequent8
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0003128HP:0004900Severe lactic acidosis1NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0003128HP:0004902Congenital lactic acidosis1OGDH CL E G H49678124OMIM:203740Alpha-Ketoglutarate dehydrogenase deficiency.
HP:0003128HP:0004925Chronic lactic acidosis1PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0003128HP:0004900Severe lactic acidosis1PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0003128HP:0004902Congenital lactic acidosis1PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040282 - Frequent88
HP:0003128HP:0004900Severe lactic acidosis1PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040282 - Frequent54
HP:0003128HP:0004913Intermittent lactic acidemia1PYGL CL E G H58369725ORPHA:369Glycogen storage disease due to liver glycogen phosphorylase deficiencyHP:0040283 - Occasional71
HP:0003128HP:0004900Severe lactic acidosis1RRM2B CL E G H5048417296OMIM:612075Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)125
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0003128HP:0004900Severe lactic acidosis1SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0003128HP:0004900Severe lactic acidosis1SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0003128HP:0004913Intermittent lactic acidemia1TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome.
HP:0003128HP:0004900Severe lactic acidosis1TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040282 - Frequent101
HP:0003128HP:0004900Severe lactic acidosis1TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040282 - Frequent
HP:0003128HP:0004900Severe lactic acidosis1TRNT CL E G H45767499ORPHA:254857Lethal infantile mitochondrial myopathyHP:0040282 - Frequent
HP:0003128HP:0004902Congenital lactic acidosis1UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0003128HP:0004897Stress/infection-induced lactic acidosis1UQCRFS1 CL E G H738612587OMIM:618775MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10


Genes (189) :AARS2 ACAD9 AGK ALDH7A1 ALDOB ATP5F1D ATP5F1E BCKDHA BCKDHB BCS1L BOLA3 CA5A CAMKMT COA6 COA8 COQ2 COQ8A COQ9 COX1 COX10 COX16 COX2 COX3 COX6B1 COX8A CYC1 CYTB DBT DGUOK DLAT DLD DNM1L EARS2 ELAC2 ETHE1 FARS2 FBP1 FBXL4 FH FOXRED1 G6PC1 GATB GATC GFER GTPBP3 HADH HADHA HADHB HSD17B10 IBA57 ISCU LARS1 LARS2 LIAS LIG3 LIPT1 LIPT2 LONP1 LRPPRC LYRM4 LYRM7 MARS1 MICOS13 MIPEP MLYCD MPC1 MPV17 MRPS14 MRPS16 MRPS34 MRPS7 MTO1 NADK2 NAXE ND1 ND2 ND3 ND4 ND5 ND6 NDUFA1 NDUFA10 NDUFA11 NDUFA4 NDUFA6 NDUFA8 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NSUN3 NUBPL OGDH PC PCCA PCCB PCK1 PDHA1 PDHB PDHX PDP1 PDSS2 PET100 PHKA2 PHKB PHKG2 PLPBP PMPCA PNPLA8 POLG PPM1B PREPL PUS1 PYGL QRSL1 RMND1 RRM2B RYR1 SCO2 SDHA SDHD SERAC1 SFXN4 SLC25A13 SLC25A19 SLC25A26 SLC25A3 SLC25A4 SLC25A42 SLC37A4 SLC3A1 SLC52A1 SQOR SUCLA2 SUCLG1 SURF1 TAFAZZIN TANGO2 TIMMDC1 TK2 TKFC TMEM126B TMEM70 TPK1 TRMT10C TRMT5 TRMU TRNC TRNE TRNF TRNH TRNK TRNL1 TRNN TRNQ TRNS1 TRNS2 TRNT TRNT1 TRNV TRNW TSFM TUFM TYMP UQCC2 UQCC3 UQCRFS1 USP18 VARS2 WARS2 YARS2

Diseases (175) :OMIM:614096 ORPHA:99901 OMIM:611126 ORPHA:1369 OMIM:212350 ORPHA:3006 OMIM:229600 OMIM:618120 OMIM:614053 OMIM:248600 ORPHA:53693 OMIM:603358 OMIM:124000 OMIM:614299 OMIM:615751 ORPHA:163693 OMIM:616501 ORPHA:436271 OMIM:607426 ORPHA:255249 ORPHA:139485 OMIM:612016 OMIM:614654 ORPHA:550 OMIM:540000 OMIM:619046 OMIM:619355 OMIM:619051 OMIM:619059 OMIM:615453 ORPHA:137675 OMIM:251880 OMIM:245348 OMIM:246900 ORPHA:2394 OMIM:614388 OMIM:614924 OMIM:615440 OMIM:602473 ORPHA:51188 OMIM:614946 ORPHA:348 OMIM:615471 OMIM:606812 ORPHA:2609 OMIM:618241 OMIM:232200 OMIM:618838 OMIM:618839 ORPHA:330054 ORPHA:444013 OMIM:616198 ORPHA:71212 OMIM:609015 ORPHA:391428 ORPHA:391457 OMIM:300438 OMIM:615330 OMIM:255125 OMIM:615438 OMIM:617021 OMIM:614462 ORPHA:298 OMIM:616299 OMIM:617668 ORPHA:79243 ORPHA:70472 OMIM:220111 OMIM:615595 OMIM:615838 OMIM:615486 OMIM:618329 OMIM:617228 OMIM:248360 OMIM:614741 OMIM:256810 OMIM:618378 OMIM:610498 OMIM:617664 OMIM:617872 OMIM:614702 ORPHA:431361 OMIM:617186 OMIM:618243 OMIM:618236 OMIM:619065 OMIM:618253 OMIM:619272 OMIM:618240 OMIM:618238 OMIM:618239 OMIM:618776 OMIM:619003 OMIM:618246 OMIM:620135 OMIM:618226 OMIM:618228 OMIM:618230 OMIM:252010 OMIM:618232 OMIM:618229 OMIM:605711 OMIM:619012 OMIM:203740 OMIM:266150 OMIM:606054 OMIM:261680 OMIM:312170 ORPHA:255138 OMIM:614111 OMIM:245349 ORPHA:255182 OMIM:608782 ORPHA:79246 OMIM:619055 ORPHA:264580 OMIM:306000 ORPHA:79240 OMIM:613027 ORPHA:1170 OMIM:251950 OMIM:603041 ORPHA:2598 OMIM:600462 ORPHA:369 OMIM:618835 OMIM:614922 OMIM:612075 ORPHA:466650 OMIM:604377 OMIM:252011 OMIM:619167 OMIM:614739 OMIM:615578 ORPHA:247598 OMIM:607196 OMIM:616794 ORPHA:91130 OMIM:610773 OMIM:615418 OMIM:617184 OMIM:618416 ORPHA:79259 OMIM:232220 OMIM:232240 OMIM:615026 OMIM:619221 OMIM:612073 ORPHA:17 OMIM:245400 OMIM:220110 OMIM:302060 OMIM:616878 ORPHA:480864 OMIM:609560 OMIM:618805 OMIM:614052 OMIM:614458 OMIM:616974 OMIM:616539 OMIM:613070 ORPHA:254864 ORPHA:254857 OMIM:551000 OMIM:616084 OMIM:610505 OMIM:610678 OMIM:615824 OMIM:616111 OMIM:618775 OMIM:617397 OMIM:615917 OMIM:617710 ORPHA:572798 OMIM:613561
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.