Mitochondria Phenome Knowledgebase

Gene Symbol PC
Ensembl ID ENSG00000173599 Entrez 5091
Gene Alias PCB Subcellular Locations Mitochondria Mitochondrial-matrix
Map Position 11q13.4-q13.5 Subcell PMIDs 7918683
OMIM Gene 608786 Protein Complex
Swissprot ID P11498 Swissprot Description "Pyruvate carboxylase, mitochondrial precursor"
OMIM Disease Pyruvate carboxylase deficiency (PC) [266150]

85 Gene-Feature associations for Gene PC

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
PC 266150 Acid-base-imbalance metabolic #826106 #6422150 #6422151 #6424438 #7503391 #7720232 #9585002 #10323732 #12112657 #15781190 #16278852 #16325442
PC 266150 Acidosis metabolic; lactic acidosis; severe acidosis metabolic 826106 6422150 6422151 6424438 7503391 7720232 9585002 10323732 12112657 15781190 16278852 16325442
PC 266150 Aminoacid-levels-abnormal elevated alanine; elevated lysine; elevated citrulline; elevated proline; decreased glutamine; decreased glutamate; hypercitrullinemia; citrullinemia; hyperlysinemia; hyperalanaemia metabolic 6422150 6424438 7503391 7720232 10323732 12112657 15781190 16278852
PC 266150 Aminoaciduria lactic aciduria; cystinuria; hyperaminoaciduria metabolic 6422151 15781190
PC 266150 Arrhythmia bradycardia; spontaneous bradycardia cardiovascular 16278852
PC 266150 Asthma respiratory 7720232
PC 266150 Athetosis athetosis and clonus neurologic 9585612
PC 266150 Blood-coagulation-disorders prothrombin time prolonged; clotting functions abnormal; factor V decreased hematologic 15781190 16278852
PC 266150 Body-temperature-changes miscellaneous #9585002
PC 266150 Brain-diseases neurologic #6402999 #6422150 #7503391 #7720232 #7822739 #9585002 #9585612 #10323732 #16278852 #16325442
PC 266150 Brain-edema cerebral edema neurologic 10323732
PC 266150 Bronchial-diseases respiratory #7720232
PC 266150 Cardiorespiratory-arrest infant death; cardiac failure cardiovascular 7503391 12112657 15781190 16278852
PC 266150 Cardiovascular-diseases cardiovascular #7503391 #12112657 #15781190 #16278852
PC 266150 Central-nervous-system-diseases neurologic #6402999 #6422150 #7503391 #7720232 #7822739 #9585002 #9585612 #10323732 #15781190 #16278852 #16325442
PC 266150 Cerebral-gliosis diffuse gliosis; gray and white matter gliosis neurologic 7503391
PC 266150 Cerebral-necrosis neurologic 10323732
PC 266150 Cerebrovascular-disorders neurologic #10323732 #16278852
PC 266150 Consciousness-disorders depressed level of consciousness; coma; variable presentation; hyporeactivity neurologic 7503391 16278852
PC 266150 Craniofacial-abnormalities musculoskeletal #10323732 #16278852
PC 266150 Dehydration metabolic 7720232 15781190 16278852
PC 266150 Developmental-delay psychomotor retardation; psychomotor delay; dysgraphia neurologic 6422150 7720232 9585002 16325442
PC 266150 Digestive-system-diseases gastrointestinal #6422150 #6424438 #7503391 #10323732 #15781190 #16278852 #16325442
PC 266150 Dysarthria dysarthric; dysgraphia neurologic 7822739 16325442
PC 266150 Dysmorphism-and-abnormalities facial dysmorphism miscellaneous 16278852
PC 266150 Electroencephalogram-abnormal hypsarrhythmia; subintrant crisis; multifocal spikes; multiple polyspikes; irregular changes neurologic 7503391 16278852
PC 266150 Eye-diseases ophthalmologic #16278852
PC 266150 Failure-to-thrive failure to gain weight miscellaneous 6422151 9585002 16278852 16325442
PC 266150 Fatty-liver steatosis; portal steatosis; portal fibrosis gastrointestinal 10323732 16278852
PC 266150 Fever febrile illness miscellaneous 9585002
PC 266150 Genitourinary-diseases genitourinary #6422151 #7503391
PC 266150 Glucose-metabolism-disorders metabolic #6424438 #7503391 #9585002 #9585612
PC 266150 Growth-disorders miscellaneous #6422151 #9585002 #16278852 #16325442
PC 266150 Heart-diseases cardiovascular #16278852
PC 266150 Hematologic-diseases hematologic #15781190 #16278852
PC 266150 Hemochromatosis iron overload; hemosiderosis; liver metabolic 10323732
PC 266150 Hepatomegaly liver enlarged gastrointestinal 6424438 7503391 15781190 16278852
PC 266150 Hydrocephalus mild neurologic 7720232 10323732
PC 266150 Hyperammonemia ammonia levels elevated metabolic 826106 6424438 7503391 7720232 9585002 12112657 15781190
PC 266150 Hyperbilirubinemia jaundice metabolic 15781190
PC 266150 Hypernatremia metabolic 16278852
PC 266150 Hyperventilation tachypnea; rapid breathing; rapid respiration; episodes respiratory 7503391 7720232 16278852 16325442
PC 266150 Hypoglycemia episodes metabolic 6424438 7503391 9585002 9585612
PC 266150 Immune-system-diseases immunologic #9585002 #15781190 #16325442
PC 266150 Infections viral infections; infection related episodes; rhinopharyngitis immunologic 9585002 15781190 16325442
PC 266150 Intracranial-hemorrhages cerebellar hemorrhage; intraventricular hemorrhage; nonprogressive neurologic 10323732 16278852
PC 266150 Irritability neurologic 10323732
PC 266150 Ketosis ketone bodies elevated; ketonuria; urinary ketones elevated; hyperketonemia metabolic 826106 7503391 9585002 15781190 16278852 16325442
PC 266150 Kidney-diseases genitourinary #6422151 #7503391
PC 266150 Lethargy drowsiness neurologic 7720232 16325442
PC 266150 Leukoencephalopathy MRI findings; bilateral symmetric; signal intensity abnormalities; white matter abnormal; subcortical white matter abnormal; brainstem abnormal; leukodystrophy; leukodystrophic process; periventricular white matter abnormal; white matter cysts; subcortical leucodystrophy; periventricular leukomalacia (PVL) neurologic 6402999 7822739 9585002 16278852 16325442
PC 266150 Liver-diseases liver failure gastrointestinal #6424438 #7503391 #10323732 #15781190 16278852
PC 266150 Liver-enzymes-abnormal hepatic enzymes elevated; liver transaminases elevated; ALT elevated; AST elevated gastrointestinal 7503391 15781190 16278852
PC 266150 Lung-diseases respiratory #7503391
PC 266150 Macrocephaly musculoskeletal 10323732 16278852
PC 266150 Mental-retardation moderately retarded; mentally retarded neurologic 6422150 6424438 9585002
PC 266150 Metabolic-diseases metabolic #826106 #6422150 #6422151 #6424438 #7503391 #7720232 #9585002 #9585612 #10323732 #12112657 #15781190 #16278852 #16325442
PC 266150 Microcephaly musculoskeletal 10323732
PC 266150 Mitochondria-abnormal glycogen granules miscellaneous 10323732
PC 266150 Movement-disorders hypokinesia; hypomimia; tremulations; pendular movements neurologic #9585612 16278852
PC 266150 Muscle-hypotonia generalized hypotonia; axial hypotonia neurologic 7503391 9585612 15781190 16278852 16325442
PC 266150 Muscle-spasticity spasticity; progressive spasticity; hemiplegia; spastic tetraparesis; spastic quadriparesis neurologic 7822739 9585002 16278852
PC 266150 Musculoskeletal-diseases musculoskeletal #10323732 #16278852
PC 266150 Nervous-system-diseases neurologic #6402999 #6422150 #6424438 #7503391 #7720232 #7822739 #9585002 #9585612 #10323732 #15781190 #16278852 #16325442
PC 266150 Neurobehavioral-manifestations neurologic #6422150 #6424438 #7503391 #7720232 #7822739 #9585002 #10323732 #16278852 #16325442
PC 266150 Neurologic-manifestations neurologic #6422150 #6424438 #7503391 #7720232 #7822739 #9585002 #9585612 #10323732 #15781190 #16278852 #16325442
PC 266150 Neuromuscular-manifestations neurologic #7503391 #7822739 #9585002 #9585612 #15781190 #16278852 #16325442
PC 266150 Neuronal-loss-and-lesions MRI findings; ischemia like brain lesions; basal ganglia abnormal; cerebral cysts; white matter abnormal; Cranial ultrasound findings; cranial cysts; periventricular pseudocysts; myelination abnormal; hypomyelination; grey matter abnormal; mamillary bodies abnormal; midbrain abnormal neurologic 6402999 7503391 7822739 10323732 15781190 16278852 16325442
PC 266150 Ocular-motility-disorders conjugated upgaze; conjugated downgaze; fixed gaze; episodic; oculomotor apraxia ophthalmologic 16278852
PC 266150 Organic-acids-abnormal lactic aciduria; 3 hydroxybutyric aciduria; acetoacetic aciduria; p hydroxybenzaldehyde elevated metabolic 6422151 7503391 7720232 9585002 15781190 16278852
PC 266150 Paralysis-Paresis spastic tetraparesis; spastic quadriparesis neurologic 7822739 16278852
PC 266150 Pathologic-nystagmus abnormal nystagmus; pendular nystagmus; nystagmus like movements ophthalmologic 16278852
PC 266150 Pneumonia bronchopneumonia respiratory 7503391
PC 266150 Pyramidal-tract-signs neurologic 16278852
PC 266150 Reflexes-abnormal neurologic #16278852
PC 266150 Renal-insufficiency proximal; renal tubular dysfunction genitourinary 6422151 7503391
PC 266150 Respiration-disorders respiratory distress; apnea episodes; apnea; cyanosis; respiratory difficulties respiratory 7503391 7720232 9585612 10323732 15781190 #16278852 #16325442
PC 266150 Respiratory-tract-diseases respiratory #7503391 #7720232 #9585612 #10323732 #15781190 #16278852 #16325442
PC 266150 Seizures convulsions; petite mal; blnking; tripping; tonic clonic seizures; generalized seizures neurologic 6422150 7503391 9585002 9585612 16278852
PC 266150 Speech-disorders neurologic #7822739 #16325442
PC 266150 Tremor high amplitude tremor neurologic 16278852
PC 266150 Urologic-diseases genitourinary #6422151 #7503391
PC 266150 Vitamin-responsive biotine; vitamin B; variable response miscellaneous 7822739 9585002
PC 266150 Vomiting recurrent gastrointestinal 6422150 16325442
PC 266150 Water-electrolyte-imbalance metabolic #7720232 #15781190 #16278852

©2006-2009 Stanford Genome Technology Center, Stanford University | Webmastercreative commons