Mitochondria Phenome Knowledgebase

Gene Symbol OTC
Ensembl ID ENSG00000036473 Entrez 5009
Gene Alias MGC129967; MGC129968; MGC138856; OCTD Subcellular Locations Mitochondria Mitochondrial-matrix
Map Position Xp21.1 Subcell PMIDs 3891325
OMIM Gene 300461 Protein Complex Urea cycle
Swissprot ID P00480 Swissprot Description Ornithine carbamoyltransferase, mitochondrial precursor
OMIM Disease Hyperammonemia due to ornithine transcarbamylase deficieny (OTCD) [311250]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
OTC 311250 Digestive-system-diseases gastrointestinal #429491 #3508674 #3945292 #8008687 #8732901 #8829665 #9056557 #10064660 #11148526 #11260212 #11793468 #12083811 #12403252 #15243986 #15578616
OTC 311250 Liver-diseases hepatic dysfunction; hepatocellular dysfunction gastrointestinal #429491 #3508674 #8008687 8732901 #8829665 #9056557 #11148526 12403252
OTC 311250 Fatty-liver microvesicular fat accumulation; centrilobular steatosis; glycogen accumulation; fatty metamorphosis gastrointestinal 429491 3508674 8008687
OTC 311250 Liver-enzymes-abnormal ALT elevated; AST elevated; liver transaminases elevated gastrointestinal 429491 3508674 8732901 8829665 9056557
OTC 311250 Hepatomegaly gastrointestinal 8732901 9056557 11148526
OTC 311250 Pancreatic-diseases gastrointestinal #11148526
OTC 311250 Pancreatitis amylase elevated; lipase elevated; serum; pancreas echogenicity increased; chronic pancreatitis gastrointestinal 11148526
OTC 311250 Abdominal-pain abdominal distension gastrointestinal 11148526 15578616
OTC 311250 Feeding-difficulties feeding intolerance gastrointestinal 3508674 10064660 12403252
OTC 311250 Vomiting recurrent; nausea gastrointestinal 3945292 8008687 8732901 11148526 11260212 11793468 12083811 12403252 15243986
OTC 311250 Respiratory-tract-diseases respiratory #2347583 #10064660 #12403252 #15174800 #15578616
OTC 311250 Respiration-disorders respiratory #2347583 #10064660 #12403252 #15174800 #15578616
OTC 311250 Hyperventilation tachypnea; hyperpnea respiratory 15174800 15578616
OTC 311250 Respiratory-insufficiency progressive respiratory insufficiency; respiratory arrest; apnea; respiratory distress respiratory 2347583 10064660 12403252
OTC 311250 Nervous-system-diseases neurologic #429491 #2347583 #3508674 #3945292 #8008687 #8441099 #8732901 #8829665 #10064660 #10885542 #11148526 #11260212 #11793468 #11891099 #12083811 #12403252 #12647200 #12788037 #15174800 #15243986 #15578616
OTC 311250 Central-nervous-system-diseases neurologic #429491 #3508674 #3945292 #8732901 #10885542 #11148526 #11260212 #11793468 #11891099 #12083811 #12403252 #12647200 #12788037 #15174800 #15243986 #15578616
OTC 311250 Brain-diseases neurologic #429491 #3508674 #3945292 #8732901 #10885542 #11148526 #11260212 #11793468 #11891099 #12083811 #12403252 #12647200 #12788037 #15174800 #15243986 #15578616
OTC 311250 Brain-edema swollen brain; brain edema; focal edema; cerebral edema neurologic 3508674 11148526 11260212 12647200 12788037 15243986
OTC 311250 Encephalopathy encephalopatic signs; hyperammonemic encephalopathy neurologic 10885542 12647200 15174800 15243986 15578616
OTC 311250 Seizures convulsions; generalized seizures neurologic 3508674 3945292 8732901 10885542 11793468 11891099 12083811 12403252 12647200
OTC 311250 Headache-disorders relapsing headache neurologic 8732901 15243986
OTC 311250 Cerebellar-atrophy cerebellar degeneration; grumose degeneration; cerebellar atrophy neurologic 11891099
OTC 311250 Cerebral-atrophy cerebral atrophy; cortical atrophy neurologic 429491 10885542
OTC 311250 Cerebral-necrosis astrogliotic changes neurologic 11891099
OTC 311250 Electroencephalogram-abnormal diffuse suppression neurologic 12647200
OTC 311250 Movement-disorders neurologic #12647200
OTC 311250 Choreatic-disorders choreiform movements; arms neurologic 12647200
OTC 311250 Tremor resting tremor; hand tremor neurologic 12647200
OTC 311250 Neuronal-loss-and-lesions astrocytosis; astronecrosis; Alzheimer type II astrocytosis; myelination delayed; MRI findings; signal intensity abnormalities; front lobes; parietal lobes; cystic encephalopathy; putamen abnormal; nucleus caudatus abnormal; grey matter swelling; basal ganglia abnormal; neostriatum abnormal neurologic 3508674 10885542 11891099 12647200 15578616
OTC 311250 Neurologic-manifestations neurologic #429491 #2347583 #3508674 #3945292 #8008687 #8441099 #8732901 #8829665 #10064660 #10885542 #11148526 #11260212 #11793468 #12083811 #12403252 #12647200 #12788037 #15174800 #15243986 #15578616
OTC 311250 Ataxia episodic; transient ataxia neurologic 3945292 11260212 12647200 15243986
OTC 311250 Gait-disorders broad based neurologic 12647200
OTC 311250 Neurobehavioral-manifestations neurologic #3508674 #3945292 #8008687 #8732901 #8829665 #10064660 #10885542 #11148526 #11260212 #11793468 #12083811 #12403252 #12647200 #12788037 #15174800 #15243986 #15578616
OTC 311250 Speech-disorders neurologic #12647200
OTC 311250 Dysarthria slurred speech; dysarthria neurologic 12647200
OTC 311250 Confusion disoriented neurologic 8008687
OTC 311250 Consciousness-disorders coma; metabolic coma; somnolence; mental status altered; hyperammonemic coma neurologic 8829665 11148526 11260212 11793468 12083811 12403252 12647200 12788037 15174800 15243986 15578616
OTC 311250 Mental-retardation neurologic 3945292 10885542 11260212
OTC 311250 Developmental-delay psychomotor retardation; delayed milestones neurologic 3508674 3945292 10064660 12647200 15174800 15578616
OTC 311250 Psychomotor-agitation attention deficit; hyperactivity disorder; ADHD; psychomotor agitation neurologic 8732901 12647200
OTC 311250 Irritability temper tantrum; episodes; hyperexcitability neurologic 3508674 3945292 8732901 15174800 15243986
OTC 311250 Lethargy periods of lethargy neurologic 3508674 3945292 8008687 10064660 11260212 12083811 12403252 12647200 15243986 15578616
OTC 311250 Neuromuscular-manifestations neurologic #429491 #10885542
OTC 311250 Muscle-spasticity severe spasticity neurologic 429491
OTC 311250 Muscle-hypotonia neurologic 10885542
OTC 311250 Reflexes-abnormal neurologic #12647200
OTC 311250 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 12647200
OTC 311250 Pyramidal-tract-signs extensor plantar response; babinski sign neurologic 12647200
OTC 311250 Stroke-like-episodes metabolic stroke; hemiparesis; basal ganglia involvement; CNS infarctions; hemiparetic neurologic 2347583 3508674 8441099 12647200
OTC 311250 Genitourinary-diseases genitourinary #15578616
OTC 311250 Female-genital-diseases genitourinary #15578616
OTC 311250 Pregnancy-complications hypertension or hemolysis elevated liver enzymes and low platelets; HELLP syndrome genitourinary 15578616
OTC 311250 Cardiovascular-diseases cardiovascular #15174800
OTC 311250 Heart-diseases cardiovascular #15174800
OTC 311250 Arrhythmia tachycardia cardiovascular 15174800
OTC 311250 Vascular-diseases cardiovascular #15174800
OTC 311250 Hypotension cardiovascular 15174800
OTC 311250 Blood-circulation-disorder circulatory failure; circulatory instability cardiovascular 15174800
OTC 311250 Hematologic-diseases hematologic #8732901 #11891099 #12403252 #12647200 #15174800
OTC 311250 Blood-coagulation-disorders intravascular coagulation defect; prothrombin time prolonged hematologic 8732901 11891099 12403252 12647200
OTC 311250 Polycythemia mild polycythemia hematologic 15174800
OTC 311250 Metabolic-diseases metabolic #429491 #2347583 #3508674 #8008687 #8441099 #8732901 #8829665 #9056557 #10064660 #11148526 #11260212 #11793468 #11891099 #12083811 #12647200 #12788037 #15174800 #15243986 #15578616
OTC 311250 Acid-base-imbalance metabolic #10064660 #12788037 #15174800
OTC 311250 Alkalosis respiratory alkalosis metabolic 10064660 12788037 15174800
OTC 311250 Metabolic-brain-diseases metabolic #429491 #11793468
OTC 311250 Reye-like-symptoms reye syndrome like metabolic 429491 11793468
OTC 311250 Hyperammonemia ammonia levels elevated; episodes metabolic 3508674 8008687 8441099 8732901 8829665 9056557 10064660 11148526 11793468 11891099 12083811 12647200 12788037 15174800 15243986 15578616
OTC 311250 Hyperbilirubinemia Gilberts disease; icteric sclerae metabolic 8008687 11260212
OTC 311250 Hypouremia BUN test abnormal; BUN decreased; plasma urea levels decreased metabolic 8732901 15243986 15578616
OTC 311250 Aminoacid-levels-abnormal decreased citrulline; elevated glutamine; elevated asparagine; decreased arginine; elevated alanine; elevated methionine; elevated glycine; elevated lysine metabolic 2347583 8732901 8829665 12083811 12647200 15174800 15243986 15578616
OTC 311250 Aminoaciduria mild generalized aminoaciduria metabolic 3508674
OTC 311250 Organic-acids-abnormal oroticaciduria; uraciluria metabolic 2347583 #3508674 8732901 8829665 9056557 11260212 12083811 12647200 15174800 15243986 15578616
OTC 311250 Orotic-aciduria oroticaciduria; orotic acid elevated metabolic 2347583 3508674 8732901 8829665 9056557 11260212 12083811 12647200 15174800 15243986 15578616
OTC 311250 Uraciluria uracil levels elevated metabolic 15243986
OTC 311250 Immune-system-diseases immunologic #8732901 #9056557 #12403252 #12647200 #15243986
OTC 311250 Infections respiratory tract infections; sepsis; viral infections immunologic 8732901 9056557 12403252 12647200 15243986
OTC 311250 Psychiatric-disorders psychiatric #8008687 #8732901 #11260212 #11793468 #12647200 #12788037
OTC 311250 Behavioral-symptoms behavioral changes; behavioral problems; property destruction; mistreatment of animals; neurobehavioral changes psychiatric #8008687 #8732901 11260212 11793468 12647200 #12788037
OTC 311250 Aggression aggressive behavior; outbursts of anger; combative psychiatric 8008687 8732901
OTC 311250 Feeding-behavior protein avoidance; protein rich food refusal; voluntary adoption to vegetarian diet psychiatric 8732901 11260212 12788037
OTC 311250 Mental-disorders psychiatric #8732901
OTC 311250 Mood-disorders mood swings; rapid mood swings psychiatric 8732901
OTC 311250 Body-temperature-changes miscellaneous #12403252 #15578616
OTC 311250 Hypothermia miscellaneous 12403252 15578616
OTC 311250 Exercise-intolerance fatigue miscellaneous 11148526
OTC 311250 Growth-disorders miscellaneous #8732901 #10885542
OTC 311250 Failure-to-thrive appetite decreased miscellaneous 8732901 10885542
OTC 311250 Mitochondria-abnormal rounded and expanded mitochondria; cristae at the edge of mitochondrial membrane miscellaneous 8008687

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