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disease: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

id5548
nameHepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
descriptionLeigh syndrome (or subacute necrotizing encephalomyelopathy) is characterized by decompensation (often with elevated lactate levels in blood and/or CSF) during an intercurrent illness. It is typically associated with psychomotor retardation or regression, often followed by transient or prolonged stabilization or even improvement, but inevitably resulting in eventual progressive neurologic decline, typically occurring in stepwise decrements. Neurologic manifestations include hypotonia, spasticity, movement disorders (including chorea), cerebellar ataxia, and peripheral neuropathy. Extraneurologic manifestations may include hypertrophic cardiomyopathy, hypertrichosis, anemia, renal tubulopathy, liver involvement, ptosis, and muscle weakness. Onset is typically between ages three and 12 months; about 50% of affected individuals die by age three years, most often as a result of respiratory or cardiac failure. Later onset (including in adulthood) and long-term survival may occasionally occur.
variant-disease m.7896G>A AND Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
NM_001312871.1(COX20):c.154A>C (p.Thr52Pro) AND Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
NM_004589.3(SCO1):c.394G>A (p.Gly132Ser) AND Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
NM_005138.2(SCO2):c.276A>G (p.Glu92=) AND Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
NM_014929.3(FASTKD2):c.-178T>C AND Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
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