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 III (HP:0011924)help
Term ID: 11924
Name: Decreased activity of mitochondrial complex III
Synonym: Respiratory complex III deficiency
Definition: A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.
Comments:
Reference: HP:0011924
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased activity of mitochondrial ATP synthase complex (HP:0011925) help
..expandDecreased activity of mitochondrial complex I (HP:0011923) help
..expandDecreased activity of mitochondrial complex II (HP:0008314) 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:0011924HP:0011924Decreased activity of mitochondrial complex III0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia14
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040282 - Frequent35
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type.19
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0NSUN3 CL E G H6389926208OMIM:619012COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 693
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant68
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040282 - Frequent60
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 291
HP:0011924HP:0011924Decreased activity of mitochondrial complex III0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77


Genes (28) :BCS1L BOLA3 CARS2 CHCHD10 CYC1 DGUOK EARS2 GATC GFM1 ISCU LYRM7 MIEF2 MPV17 MRPS14 MRPS16 NDUFS4 NFS1 NSUN3 QRSL1 RARS2 SLC25A4 SUCLG1 TIMM22 TK2 TRMT5 TSFM TXN2 UQCC2

Diseases (31) :OMIM:124000 OMIM:614299 ORPHA:477774 OMIM:616672 OMIM:616209 OMIM:615453 OMIM:251880 OMIM:614924 OMIM:618839 OMIM:609060 OMIM:255125 OMIM:615838 OMIM:619024 OMIM:256810 OMIM:618378 OMIM:610498 OMIM:252010 OMIM:619386 OMIM:619012 OMIM:618835 OMIM:611523 OMIM:617184 ORPHA:17 OMIM:245400 OMIM:618851 OMIM:609560 OMIM:616539 OMIM:610505 ORPHA:478029 OMIM:616811 OMIM:615824
 

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