polg2 Phenotypes

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Phenotypes

Gene Literature (1)

Nucleotides (135)

Interactants (18)

XB-GENEPAGE-1009984

Gene Symbol: polg2 Gene Name: polymerase (DNA directed), gamma 2, accessory subunit

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (96 sources): Abdominal distention, Abnormal mitochondrial morphology, Abnormality of extrapyramidal motor function, Abnormality of eye movement, Abnormality of the liver, Abnormality of the mitochondrion, Absent Achilles reflex, Anxiety, Arrhythmia, Ataxia, Atrial fibrillation, Bipolar affective disorder, Bradykinesia, Cataract, Cerebellar atrophy, Cerebral visual impairment, Cholestasis, Cognitive impairment, Cogwheel rigidity, Constipation, Cytochrome C oxidase-negative muscle fibers, Depression, Diabetes mellitus, Difficulty climbing stairs, Dilated cardiomyopathy, Dysarthria, Dysphagia, EMG: myopathic abnormalities, Easy fatigability, Edema, Elevated circulating creatine kinase concentration, Elevated circulating hepatic transaminase concentration, Exercise intolerance, Exertional dyspnea, External ophthalmoplegia, Facial diplegia, Facial palsy, Failure to thrive, Fatigue, Feeding difficulties, Focal white matter lesions, Frequent falls, Gait ataxia, Gait disturbance, Gastroesophageal reflux, Gastroparesis, Generalized hypotonia, Global developmental delay, Glucose intolerance, Goiter, Hearing impairment, Hepatic failure, Hepatomegaly, Hyperthyroidism, Hypomimic face, Hypoplasia of the corpus callosum, Hyporeflexia, Hypothyroidism, Hypotonia, Impaired glucose tolerance, Increased circulating lactate concentration, Increased total bilirubin, Jaundice, Ketosis, Left ventricular hypertrophy, Lethargy, Limb muscle weakness, Metabolic acidosis, Migraine, Mitochondrial myopathy, Multiple mitochondrial DNA deletions, Muscle spasm, Myalgia, Myopathy, Nocturia, Ophthalmoparesis, Ophthalmoplegia, Osteoporosis, Palpitations, Peripheral axonal neuropathy, Peripheral neuropathy, Progressive external ophthalmoplegia, Progressive muscle weakness, Ptosis, Quadriceps muscle weakness, Ragged-red muscle fibers, Reduced ejection fraction, Respiratory insufficiency, Resting tremor, Rigidity, Seizure, Shoulder girdle muscle weakness, Spasticity, Tremor, Ventricular arrhythmia, Visual impairment [+]
Mouse (12 sources): abnormal respiratory electron transport chain, decreased circulating alanine transaminase level, decreased circulating alkaline phosphatase level, decreased circulating iron level, decreased mitochondrial DNA content, disorganized mitochondrial cristae, embryonic lethality between somite formation and embryo turning, complete penetrance, failure of initiation of embryo turning, homeostasis/metabolism phenotype, no abnormal phenotype detected, preweaning lethality, complete penetrance, vision/eye phenotype [+]
View all ortholog results at Monarch