Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Muscle abnormality related to mitochondrial dysfunction (HP:0003800)help
..Starting node
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Cytochrome C oxidase-negative muscle fibers (HP:0003688)help
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: 
..expandDepletion of mitochondrial DNA in muscle tissue (HP:0009141) help
..expandMitochondrial myopathy (HP:0003737) help
..expandSubsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548) 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:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal20
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0COA3 CL E G H2895824990OMIM:619058MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN142
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040282 - Frequent191
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0MRPL44 CL E G H6508016650OMIM:615395Combined oxidative phosphorylation deficiency 1613
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type)464
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0PUS1 CL E G H8032415508OMIM:600462Myopathy, lactic acidosis, and sideroblastic anemia 1.57
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2.68
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0TACO1 CL E G H5120424316OMIM:619052MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN823
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040282 - Frequent103
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040281 - Very frequent101
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040281 - Very frequent
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0003688HP:0003688Cytochrome C oxidase-negative muscle fibers0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138


Genes (27) :AARS2 BRAT1 COA3 COA8 COX10 COX6A2 COX6B1 ETHE1 LRPPRC MIEF2 MRPL44 NDUFA4 POLG POLG2 PUS1 RRM2B SLC25A4 SURF1 TACO1 TK2 TRMT5 TRMU TRNE TRNN TRNS1 TWNK TYMP

Diseases (28) :OMIM:614096 OMIM:614498 OMIM:619058 OMIM:619061 OMIM:619046 OMIM:619062 OMIM:619051 OMIM:602473 ORPHA:70472 OMIM:619024 OMIM:615395 OMIM:619065 ORPHA:254892 ORPHA:254886 OMIM:603041 OMIM:613662 OMIM:157640 OMIM:258450 OMIM:607459 OMIM:610131 OMIM:600462 OMIM:615418 OMIM:609283 OMIM:220110 OMIM:619052 OMIM:616539 ORPHA:254864 OMIM:609286
 

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