Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal activity of mitochondrial respiratory chain (HP:0011922)

Parent Node:
Decreased activity of mitochondrial respiratory chain (HP:0008972)

..Starting node
..Decreased activity of mitochondrial complex IV (HP:0008347)

Term ID:

8347

Name:

Decreased activity of mitochondrial complex IV

Synonym:

Respiratory complex IV deficiency

Definition:

A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.

Comments:

Reference:

HP:0008347

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased activity of mitochondrial ATP synthase complex (HP:0011925)

Decreased activity of mitochondrial complex I (HP:0011923)

Decreased activity of mitochondrial complex II (HP:0008314)

Decreased activity of mitochondrial complex III (HP:0011924)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent	35
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040281 - Very frequent	191
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent	60
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0008347	HP:0008347	Decreased activity of mitochondrial complex IV	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56

Genes (51) :AARS2 AIFM1 CARS2 CHCHD10 COA3 COA5 COA6 COA8 COX16 COX20 COX4I1 COX5A COX6A2 DGUOK EARS2 GATC GFM1 GTPBP3 ISCU LRPPRC MECR MGME1 MIEF2 MPV17 MRM2 MRPL12 MRPS14 MRPS16 MRPS23 MRPS25 MTRFR NDUFA4 NSUN3 PET100 PET117 POLG QRSL1 RARS2 RRM2B SCO2 SLC25A26 SLC25A4 SLC39A8 SUCLG1 TIMM22 TK2 TRIT1 TRMT5 TSFM UQCC2 VARS2

Diseases (54) :OMIM:614096 OMIM:300816 ORPHA:477774 OMIM:616672 OMIM:616209 OMIM:619058 OMIM:616500 OMIM:616501 OMIM:619061 OMIM:619355 OMIM:619054 OMIM:619060 OMIM:619064 OMIM:619062 OMIM:251880 OMIM:614924 OMIM:618839 OMIM:609060 ORPHA:444013 OMIM:255125 ORPHA:70472 ORPHA:508093 OMIM:615084 OMIM:619024 OMIM:256810 OMIM:618567 OMIM:618951 OMIM:618378 OMIM:610498 OMIM:618952 OMIM:619025 OMIM:613559 OMIM:619065 OMIM:619012 OMIM:619055 OMIM:619063 OMIM:613662 OMIM:618835 OMIM:611523 OMIM:612075 OMIM:604377 OMIM:616794 OMIM:615418 OMIM:617184 ORPHA:468699 ORPHA:17 OMIM:245400 OMIM:618851 OMIM:609560 OMIM:617873 OMIM:616539 OMIM:610505 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.

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