Gene: AGT
Cytoband position: 1q42-43
OMIM: 106150
RVIS score: 0.49
RVIS percentage: 79.61
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Abnormality of the kidney | HP:0000077 | None | An abnormality of the kidney. |
| Abnormality of the urinary system | HP:0000079 | None | An abnormality of the urinary system. |
| Abnormal renal tubule morphology | HP:0000091 | None | An abnormality of the renal tubules. |
| Abnormality of the genitourinary system | HP:0000119 | HP:0008713 | The presence of any abnormality of the genitourinary system. |
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| Abnormality of the fontanelles or cranial sutures | HP:0000235 | None | Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). |
| Abnormality of skull size | HP:0000240 | None | Any abnormality of the size of the skull. |
| Microcephaly | HP:0000252 | HP:0005497 | Head circumference below 2 standard deviations below the mean for age and gender. |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Abnormality of the nervous system | HP:0000707 | HP:0006987 | An abnormality of the nervous system. |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Abnormal skull morphology | HP:0000929 | None | An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. |
| Respiratory insufficiency | HP:0002093 | HP:0006542 | None |
| Anuria | HP:0100519 | None | Absence of urine, clinically classified as below 50ml/day. |
| 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. |
| Hypotension | HP:0002615 | HP:0006701 | Low Blood Pressure, vascular hypotension. |
| Abnormality of the calvaria | HP:0002683 | None | Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. |
| Abnormal respiratory system physiology | HP:0002795 | None | None |
| Aplasia/Hypoplasia involving the central nervous system | HP:0002977 | HP:0001323 | Absence or underdevelopment of tissue in the central nervous system. |
| Elevated systolic blood pressure | HP:0004421 | HP:0004956 | Abnormal increase in systolic blood pressure. |
| Widely patent fontanelles and sutures | HP:0004492 | HP:0005492 | An abnormally increased width of the cranial fontanelles and sutures. |
| 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. |
| Aplasia/Hypoplasia of the lungs | HP:0006703 | None | None |
| Aplasia/Hypoplasia of the cerebrum | HP:0007364 | None | None |
| Renotubular dysgenesis | HP:0008660 | None | A developmental defect characterized by absence or poor development of proximal renal tubules. |
| Abnormal axial skeleton morphology | HP:0009121 | None | An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. |
| Wide cranial sutures | HP:0010537 | None | An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). |
| Abnormality of the upper urinary tract | HP:0010935 | None | An abnormality of the upper urinary tract. |
| Abnormal cardiovascular system physiology | HP:0011025 | None | Abnormal functionality of the cardiovascular system. |
| Abnormality of renal excretion | HP:0011036 | None | An altered ability of the kidneys to void urine and/or specific substances. |
| Decreased urine output | HP:0011037 | None | A decreased rate of urine production. |
| Abnormality of the urinary system physiology | HP:0011277 | None | None |
| Abnormality of fontanelles | HP:0011328 | None | An abnormality of the fontanelle. |
| Abnormality of cranial sutures | HP:0011329 | None | Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. |
| Facial shape deformation | HP:0011334 | None | None |
| Abnormality of skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormal renal morphology | HP:0012210 | HP:0008712 | Any structural anomaly of the kidney. |
| Abnormal renal physiology | HP:0012211 | HP:0008646 | An abnormal functionality of the kidney. |
| Abnormal respiratory system morphology | HP:0012252 | None | A structural anomaly of the respiratory system. |
| Abnormality of brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Abnormal nephron morphology | HP:0012575 | None | A structural anomaly of the nephron. |
| Abnormal urine output | HP:0012590 | None | An abnormal amount of urine production. |
| 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. |
| 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. |
| Abnormality of prenatal development or birth | HP:0001197 | None | An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. |
| 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. |
| Abnormality of the amniotic fluid | HP:0001560 | None | Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. |
| Oligohydramnios | HP:0001562 | HP:0004638 | Diminished amniotic fluid volume in pregnancy. |
| Abnormality of the cardiovascular system | HP:0001626 | None | Any abnormality of the cardiovascular system. |
| Abnormal facial shape | HP:0001999 | HP:0005124 | An abnormal morphology (form) of the face or its components. |
| Morphological central nervous system abnormality | HP:0002011 | HP:0007319 | A structural abnormality of the central nervous system. |
| Abnormal cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |
| Abnormality of the respiratory system | HP:0002086 | None | An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. |
| Abnormal lung morphology | HP:0002088 | None | Any structural anomaly of the lung. |
| Pulmonary hypoplasia | HP:0002089 | None | None |
| Autosomal recessive inheritance | HP:0000007 | HP:0001526 | 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| Large fontanelles | HP:0000239 | HP:0004473 | In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. |
| Potter facies | HP:0002009 | None | A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. |
| Decreased head circumference | HP:0040195 | None | An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. |
| Abnormality of the musculoskeletal system | HP:0033127 | None | An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. |