Human Phenotype Ontology 
Grandparent Node:
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Abnormal activity of mitochondrial respiratory chain (HP:0011922)help
Parent Node:
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Decreased activity of mitochondrial respiratory chain (HP:0008972)help
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Decreased activity of mitochondrial complex I (HP:0011923)help
Term ID: 11923
Name: Decreased activity of mitochondrial complex I
Synonym: Respiratory complex I deficiency
Definition: A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.
Comments:
Reference: HP:0011923
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased activity of mitochondrial ATP synthase complex (HP:0011925) help
..expandDecreased activity of mitochondrial complex II (HP:0008314) help
..expandDecreased activity of mitochondrial complex III (HP:0011924) help
..expandDecreased activity of mitochondrial complex IV (HP:0008347) 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:0011923HP:0011923Decreased activity of mitochondrial complex I0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040280 - Obligate98
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency98
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040282 - Frequent35
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate61
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040282 - Frequent16
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type.19
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0MRPS23 CL E G H5164914509OMIM:618952COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 2729
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate7
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate32
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 1432
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 237
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate1
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 2627
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate40
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate26
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate31
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 1831
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate50
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 1550
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate34
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 1739
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFAF8 CL E G H28418433551OMIM:618776MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate3
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate9
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFB7 CL E G H47137702OMIM:620135
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate16
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFB9 CL E G H47157704OMIM:618245Mitochondrial complex I deficiency, nuclear type 2416
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate81
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate65
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate22
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFS3 CL E G H47227710OMIM:618230Mitochondrial complex I deficiency, nuclear type 822
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate27
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate21
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate38
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate42
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate74
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 474
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate27
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate89
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 2189
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 693
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0SLC25A10 CL E G H146810980OMIM:618972MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant68
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040282 - Frequent60
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate1
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0TIMMDC1 CL E G H513001321OMIM:618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN311
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiencyHP:0040280 - Obligate4
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 3512
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040282 - Frequent101
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040282 - Frequent
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 291
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0011923HP:0011923Decreased activity of mitochondrial complex I0VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 2056


Genes (76) :AARS2 ACAD9 BOLA3 CARS2 DGUOK EARS2 FOXRED1 GATC GFM1 GTPBP3 IBA57 ISCU MECR MGME1 MIEF2 MPV17 MRM2 MRPL12 MRPS14 MRPS16 MRPS23 MTFMT MTRFR ND1 ND2 ND3 NDUFA1 NDUFA11 NDUFA12 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NSUN3 NUBPL POLG PTCD3 QRSL1 RARS2 SLC25A10 SLC25A26 SLC25A4 SUCLG1 TIMM22 TIMMDC1 TK2 TMEM126B TRIT1 TRMT5 TRMU TRNE TSFM TXN2 UQCC2 VARS2

Diseases (66) :OMIM:614096 ORPHA:99901 OMIM:611126 OMIM:614299 ORPHA:477774 OMIM:616672 OMIM:251880 OMIM:614924 ORPHA:2609 OMIM:618241 OMIM:618839 OMIM:609060 ORPHA:444013 ORPHA:468661 OMIM:255125 ORPHA:508093 OMIM:615084 OMIM:619024 OMIM:256810 OMIM:618567 OMIM:618951 OMIM:618378 OMIM:610498 OMIM:618952 OMIM:618248 OMIM:613559 OMIM:618236 OMIM:618244 OMIM:618253 OMIM:619272 OMIM:618247 OMIM:618240 OMIM:618237 OMIM:618238 OMIM:618239 OMIM:618776 OMIM:619003 OMIM:620135 OMIM:618245 OMIM:619170 OMIM:618230 OMIM:252010 OMIM:618222 OMIM:618225 OMIM:619012 OMIM:618242 OMIM:613662 OMIM:619057 OMIM:618835 OMIM:611523 OMIM:618972 OMIM:616794 OMIM:617184 ORPHA:17 OMIM:245400 OMIM:618851 OMIM:618251 OMIM:609560 OMIM:617873 OMIM:616539 ORPHA:254864 OMIM:610505 ORPHA:478029 OMIM:616811 OMIM:615824 OMIM:615917
 

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