Disease #01740

Official abbreviation -
Name deficiency, mitochondrial complex IV (cytochrome C oxidase)
OMIM ID 220110
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 14
Phenotype entries for this disease 14
Associated with 10 genes APOPT1, COA5, COX10, COX14, COX20, COX6B1, FASTKD2, PET100, SCO1, TACO1
Associated tissues -
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Remarks -


Individuals

14 entries on 1 page. Showing entries 1 - 14.
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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
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