Monarch Ortholog Phenotypes
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Human (49 sources):
Abdominal distention,
Abnormality of the cardiovascular system,
Abnormality of the coagulation cascade,
Abnormality of the liver,
Abnormality of the nervous system,
Acute hepatic failure,
Areflexia,
Cytochrome C oxidase-negative muscle fibers,
Decreased activity of mitochondrial complex I,
Decreased plasma carnitine,
Delayed gross motor development,
Elevated circulating creatine kinase concentration,
Elevated circulating hepatic transaminase concentration,
Facial palsy,
Failure to thrive,
Feeding difficulties,
Feeding difficulties in infancy,
Generalized hypotonia,
Hepatomegaly,
High palate,
Hyperbilirubinemia,
Hypertrophied muscle fibers,
Hyporeflexia,
Hypotonia,
Increased circulating lactate concentration,
Increased muscle glycogen content,
Increased muscle lipid content,
Increased serum pyruvate,
Jaundice,
Lactic acidosis,
Macroglossia,
Macrovesicular hepatic steatosis,
Microvesicular hepatic steatosis,
Mildly elevated creatine kinase,
Mitochondrial myopathy,
Mitochondrial respiratory chain defects,
Muscle weakness,
Myopathic facies,
Myopathy,
Nasogastric tube feeding in infancy,
Neck muscle weakness,
Poor suck,
Ragged-red muscle fibers,
Respiratory distress,
Respiratory failure requiring assisted ventilation,
Respiratory insufficiency due to muscle weakness,
Severe lactic acidosis,
Ventilator dependence with inability to wean,
Vomiting
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Mouse (14 sources):
abnormal mitochondrial crista morphology,
abnormal mitochondrial physiology,
abnormal nucleotide metabolism,
decreased circulating amylase level,
embryonic lethality between implantation and somite formation, complete penetrance,
homeostasis/metabolism phenotype,
increased cell nucleus count,
increased circulating alanine transaminase level,
increased circulating aspartate transaminase level,
increased circulating lactate dehydrogenase level,
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View all ortholog results at Monarch
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