Human Phenotype Ontology

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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:
Abnormality of the musculature (HP:0003011)

Parent Node:
Muscle abnormality related to mitochondrial dysfunction (HP:0003800)

..Starting node
..Cytochrome C oxidase-negative muscle fibers (HP:0003688)

Term ID:

3688

Name:

Cytochrome C oxidase-negative muscle fibers

Synonym:

Cytochrome c oxidase deficiency in skeletal muscle; Cytochrome C oxidase-negative muscle fibres; Decreased activity of cytochrome C oxidase in muscle tissue; Decreased skeletal muscle cytochrome c oxidase activity

Definition:

An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.

Comments:

Reference:

HP:0003688

Genes and Diseases:

Child Nodes:

Sister Nodes:

Depletion of mitochondrial DNA in muscle tissue (HP:0009141)

Mitochondrial myopathy (HP:0003737)

Subsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	ETHE1 CL E G H	23474	602473	Ethylmalonic encephalopathy	602473	C1865349	OMIM	1	338	23287	608451
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	MT-TE CL E G H	4556	254864				ORPHA	1		7479	590025
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	POLG CL E G H	5428	254886				ORPHA	1	2324	9179	174763
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	2324	9179	174763
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	357	9180	604983
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	PUS1 CL E G H	80324	600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	600462	C1838103	OMIM	1	478	15508	608109
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	333	10990	103220
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	TK2 CL E G H	7084	254886				ORPHA	1	442	11831	188250
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	TRMU CL E G H	55687	254864				ORPHA	1	623	25481	610230
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0003688	HP:0003688	Cytochrome C oxidase-negative muscle fibers	0	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	895	3148	131222
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (28) :APOPT1 COA7 COA8 COX10 COX14 COX20 COX6B1 COX8A ETHE1 FASTKD2 MT-TE MT-TN MT-TS1 PET100 POLG POLG2 PUS1 RRM2B SCO1 SLC25A4 TACO1 TK2 TRMU TRNE TRNN TRNS1 TWNK TYMP

Diseases (13) :220110 602473 254892 254886 157640 258450 603041 607459 610131 600462 609283 254864 609286

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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