Disease #01740

Official abbreviation -
Name deficiency, mitochondrial complex IV (cytochrome C oxidase)
OMIM ID 220110
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 16
Phenotype entries for this disease 16
Associated with 11 genes APOPT1, COA5, COX10, COX14, COX20, COX6A2, COX6B1, FASTKD2, PET100, SCO1, TACO1
Associated tissues -
Disease features -
Remarks -


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00020015 - - - M yes - - 00y01m 0 - - deficiency, mitochondrial complex IV (cytochrome C oxidase) core clinical features: progressive neonatal hypertrophic, cardiomyopathy, lactic acidosis, muscular hypotonia: other features: pulomonary hypertension, persistent ductus arteriosus, dysmorphic features (small chin flat orbital bridges) COA6 COA6 1 1 Richard Rodenburg
00095413 28386624-Pats PubMed: Renkema 2017, Journal: Renkema 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/sibs F yes Morocco - - 0 - - deficiency, mitochondrial complex IV (cytochrome C oxidase) see paper; ..., mitochondrial complex IV deficiency (HP:0008347), neurodevelopmental regression (HP:0002376), medulla oblongata lesions (HP:0011441) - PET117 1 2 Herma Renkema
00132782 - - - M - - - - 0 - - deficiency, mitochondrial complex IV (cytochrome C oxidase) - VARS2 VARS2 2 1 Daniele Ghezzi
00204778 24462369-A1 PubMed: Lim 2014 2 generation family, consanguineous parents, 1 affected M yes Australia Lebanese 00y08m 0 - - LS, deficiency, mitochondrial complex IV (cytochrome C oxidase) Decreased activity of mitochondrial complex IV (HP:0008347) (muscle, fibroblasts, liver), Global developmental delay (HP:0001263), failure to thrive (HP:0001508), seizures (HP:0001250), increased blood and CSF lactate levels (HP:0003128) - PET100 1 1 Sze Chern Lim
00205226 24462369-B1 PubMed: Lim 2014 2 generation family, consanguineous parents, 1 affected (first 4 children in the family died within the first year of life without clear diagnoses but all had developmental delay and seizures.) M yes Australia Lebanese 00y08m 0 - - LS, deficiency, mitochondrial complex IV (cytochrome C oxidase) Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), Global developmental delay (HP:0001263), failure to thrive (HP:0001508), seizures (HP:0001250), elevated blood and CSF lactate levels (HP:0003128) - PET100 1 1 Sze Chern Lim
00207012 24462369-C1 PubMed: Lim 2014 2 generation family, non-consanguineous parents, 1 affected F no Australia Lebanese >15y06m 0 - - LS, deficiency, mitochondrial complex IV (cytochrome C oxidase) Decreased activity of mitochondrial complex IV (HP:0008347) (muscle, fibroblasts), Elevated serum and CSF lactate levels (HP:0003128), elevated CSF and serum pyruvate (HP:0003542) levels - PET100 1 1 Sze Chern Lim
00207013 24462369-D1 PubMed: Lim 2014 2 generation family, consanguineous parents, 2 affected siblings M yes Australia Lebanese >24y 0 - - LS, deficiency, mitochondrial complex IV (cytochrome C oxidase) Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), Elevated plasma and CSF lactate levels (HP:0003128), profound mental retardation (HP:0002187), seizures (HP:0001250) - PET100 1 2 Sze Chern Lim
00207014 24462369-D2 PubMed: Lim 2014 2 generation family, consanguineous parents, 2 affected siblings M yes Australia Lebanese 00y07m 0 - - LS, deficiency, mitochondrial complex IV (cytochrome C oxidase) Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), seizures (HP:0001250), delayed motor milestones (HP:0001270), increased CSF lactate (HP:0002490) - PET100 1 1 Sze Chern Lim
00207418 24462369-E1 PubMed: Lim 2014 2 generation family, non-consanguineous parents, 2 affected siblings M no Australia Lebanese 16y 0 - - LS, deficiency, mitochondrial complex IV (cytochrome C oxidase) Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), Leigh-like, profound global developmental delay(HP:0001263), hypotonia and seizures (HP:0001250) - PET100 1 2 Sze Chern Lim
00207419 24462369-E2 PubMed: Lim 2014 2 generation family, non-consanguineous, 2 affected siblings M no Australia Lebanese >27y 0 - - LS, deficiency, mitochondrial complex IV (cytochrome C oxidase) Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), seizures (HP:0001250), developmental delay, hypotonia, failure to thrive (HP:0001508), increased blood lactate (HP:0002151) - PET100 1 1 Sze Chern Lim
00207420 24462369-F1 PubMed: Lim 2014 2 generation family, consanguineous parents M yes Australia Lebanese >09y08m 0 - - LS, deficiency, mitochondrial complex IV (cytochrome C oxidase) Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts), Lactic acidosis in blood and CSF (HP:0003128), hypotonic, seizures commenced before 8mo, severe hearing deficit and visual impairment - PET100 1 1 Sze Chern Lim
00207421 24462369-G1 PubMed: Lim 2014 2 generation family, consanguineous parents F yes Australia Lebanese 00y12m 0 - - LS, deficiency, mitochondrial complex IV (cytochrome C oxidase) Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts, liver), Leigh-like, developmental delay, hypotonia, seizures, elevated lactic acid and alanine levels in the urine PET100 PET100 1 1 Sze Chern Lim
00207422 24462369-H1 PubMed: Lim 2014 2 generation family, consanguineous parents, 1 affected child, 3 unaffected chlidren M yes Australia Lebanese 03y06m 0 - - LS, deficiency, mitochondrial complex IV (cytochrome C oxidase) blood and CSF lactate levels, and blood pyruvate level were elevated. Cranial MRI showed high-intensity signals in the putamen. Poor neurological development with myoclonic spasms, cortical blindness, and feeding difficulties., Decreased activity of mitochondrial complex IV (HP:0008347) (fibroblasts, muscle and liver) PET100 PET100 1 1 Sze Chern Lim
00207423 25293719-73387 PubMed: Oláhová 2015 2 generation family, consanguineous parents, 1 affected child F yes United Kingdom (Great Britain) Pakistani 00y00m02d 0 - - deficiency, mitochondrial complex IV (cytochrome C oxidase) Severe lactic acidosis(HP:0003128), Cranial ultrasound showed bilateral intraventricular cysts within the frontal horns and anterior portions of the lateral ventricles. Severely impaired liver function. - PET100 1 1 Sze Chern Lim
00265780 Fam1Pat1 PubMed: Inoue 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - deficiency, mitochondrial complex IV (cytochrome C oxidase) age onset infancy; hypotonia, muscle weakness, facial weakness, high arched palate, no respiratory disorder; ECG normal; myopatholgy no ragged red fiber, uniformly decreased cytochrome C oxidase, lipid droplets COX6A2 COX6A2 1 1 Johan den Dunnen
00265781 Fam2Pat2 PubMed: Inoue 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - 0 - - deficiency, mitochondrial complex IV (cytochrome C oxidase) hypotonia, muscle weakness, facial weakness, high arched palate, respiratory disorder; ECG cardiomyopathy; myopatholgy no ragged red fiber, uniformly decreased cytochrome C oxidase, lipid droplets COX6A2 COX6A2 2 1 Johan den Dunnen
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