Gene: NOS3
Cytoband position: 7q35-36
OMIM: 163729
RVIS score: -1.10
RVIS percentage: 6.97
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Heterogeneous | HP:0001425 | None | None |
| Abnormality of the urinary system | HP:0000079 | None | An abnormality of the urinary system. |
| Proteinuria | HP:0000093 | None | Increased levels of protein in the urine. |
| Abnormality of the genitourinary system | HP:0000119 | HP:0008713 | The presence of any abnormality of the genitourinary system. |
| Abnormal circulating non-proteinogenic amino acid concentration | HP:0033109 | None | Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. |
| Decreased level of GABA in serum | HP:0410054 | None | A decrease in the level of GABA in the serum. |
| Abnormal urine metabolite level | HP:0033354 | None | Any deviation from the normal concentration of a metabolite in urine. |
| Abnormality of the nervous system | HP:0000707 | HP:0006987 | An abnormality of the nervous system. |
| Dementia | HP:0000726 | HP:0007283 | A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. |
| Hypertension | HP:0000822 | HP:0005126 | The presence of chronic increased pressure in the systemic arterial system. |
| Edema | HP:0000969 | HP:0000990 | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| Abnormality of prenatal development or birth | HP:0001197 | None | An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. |
| Mental deterioration | HP:0001268 | HP:0007298 | Loss of previously present mental abilities, generally in adults. |
| Abnormality of forebrain morphology | HP:0100547 | None | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| Elevated hepatic transaminase | HP:0002910 | HP:0008342 | Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. |
| Abnormality of urine homeostasis | HP:0003110 | HP:0011866 | An abnormality of the composition of urine or the levels of its components. |
| Abnormal circulating amino acid concentration | HP:0003112 | None | The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. |
| Abnormal urine protein level | HP:0020129 | None | Any deviation of the concentration of one or more proteins in the urine. |
| Abnormal circulating carboxylic acid concentration | HP:0004354 | None | Any deviation from the normal concentration of a carboxylic acid in the blood circulation. |
| Elevated systolic blood pressure | HP:0004421 | HP:0004956 | Abnormal increase in systolic blood pressure. |
| Elevated mean arterial pressure | HP:0004972 | None | An abnormal increase in the average blood pressure in an individual during a single cardiac cycle. |
| Elevated diastolic blood pressure | HP:0005117 | None | Abnormal increase in diastolic blood pressure. |
| Maternal hypertension | HP:0008071 | None | Increased blood pressure during a pregnancy. |
| Abnormal cardiovascular system physiology | HP:0011025 | None | Abnormal functionality of the cardiovascular system. |
| Abnormality of fluid regulation | HP:0011032 | None | An abnormality of the regulation of body fluids. |
| Abnormality of the urinary system physiology | HP:0011277 | None | None |
| Abnormal central motor function | HP:0011442 | None | An anomaly of the control or production of movement in the central nervous system. |
| Abnormality of higher mental function | HP:0011446 | None | Cognitive, psychiatric or memory anomaly. |
| Abnormal platelet count | HP:0011873 | None | Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. |
| Abnormal homeostasis | HP:0012337 | None | An anomaly in the processes involved in the maintenance of an internal equilibrium. |
| Abnormal enzyme/coenzyme activity | HP:0012379 | None | An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. |
| Abnormality of brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Abnormal nervous system physiology | HP:0012638 | None | A functional anomaly of the nervous system. |
| Abnormal nervous system morphology | HP:0012639 | None | A structural anomaly of the nervous system. |
| Abnormal systemic blood pressure | HP:0030972 | None | A chronic deviation from normal pressure in the systemic arterial system. |
| Abnormal circulating metabolite concentration | HP:0032180 | None | An abnormal level of an analyte measured in the blood. |
| Increased blood pressure | HP:0032263 | None | Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. |
| Eclampsia | HP:0100601 | None | An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. |
| Long-tract signs | HP:0002423 | None | None |
| Alzheimer disease | HP:0002511 | HP:0007213 | A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. |
| Seizure | HP:0001250 | HP:0010520 | A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| Stroke | HP:0001297 | HP:0002452 | Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. |
| Parkinsonism | HP:0001300 | None | Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. |
| Multifactorial inheritance | HP:0001426 | HP:0001472 | A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. |
| Growth abnormality | HP:0001507 | HP:0008904 | None |
| Growth delay | HP:0001510 | HP:0008926 | A deficiency or slowing down of growth pre- and postnatally. |
| Intrauterine growth retardation | HP:0001511 | HP:0008931 | An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. |
| Abnormality of the cardiovascular system | HP:0001626 | None | Any abnormality of the cardiovascular system. |
| Abnormality of blood and blood-forming tissues | HP:0001871 | HP:0003135 | An abnormality of the hematopoietic system. |
| Abnormal thrombocyte morphology | HP:0001872 | HP:0005554 | An abnormality of platelets. |
| Thrombocytopenia | HP:0001873 | HP:0008302 | A reduction in the number of circulating thrombocytes. |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0004367 | None |
| Morphological central nervous system abnormality | HP:0002011 | HP:0007319 | A structural abnormality of the central nervous system. |
| Cerebral inclusion bodies | HP:0100314 | None | Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. |
| Abnormal cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |
| Abnormality of the spinal cord | HP:0002143 | None | An abnormality of the spinal cord (myelon). |
| Neurofibrillary tangles | HP:0002185 | HP:0007070 | Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. |
| Cognitive impairment | HP:0100543 | HP:0007211 | Abnormal cognition with deficits in thinking, reasoning, or remembering. |
| Toxemia of pregnancy | HP:0100603 | None | Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia. |
| Preeclampsia | HP:0100602 | None | Pregnancy-induced hypertension in association with significant amounts of protein in the urine. |
| Abnormal cerebral vascular morphology | HP:0100659 | None | An anomaly of the cerebral blood vessels. |
| Abnormality of the vasculature | HP:0002597 | None | An abnormality of the vasculature. |
| Prenatal maternal abnormality | HP:0002686 | None | None |
| Autosomal dominant inheritance | HP:0000006 | HP:0001463 | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| Abnormality of extrapyramidal motor function | HP:0002071 | HP:0007113 | A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). |