Phenotypes associated with the disease Senior-Boichis syndrome (ORPHA:84081):
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Renal corticomedullary cysts (HP:0000108): The presence of multiple cysts at the border between the renal cortex and medulla. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Elevated circulating hepatic transaminase concentration (HP:0002910): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Increased total bilirubin (HP:0003573): Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Hyperechogenic kidneys (HP:0004719): An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Reduced renal corticomedullary differentiation (HP:0005565): Reduced differentiation between renal cortex and medulla on diagnostic imaging. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Malformation of the hepatic ductal plate (HP:0006563). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Reduced number of intrahepatic bile ducts (HP:0006571): The presence of reduced numbers of intrahepatic bile duct than normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Abnormal urinary electrolyte concentration (HP:0012591): An abnormality in the concentration of electrolytes in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Thickening of the tubular basement membrane (HP:0020132): Increase in thickness of the basement membrane of the tubulus of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Abnormal renal interstitial morphology (HP:0032581): Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Tubular luminal dilatation (HP:0032622): Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:84081)
- Agitation (HP:0000713): A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:84081)
- Aggressive behavior (HP:0000718): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:84081)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:84081)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:84081)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:84081)
- Esophageal varix (HP:0002040): Extreme dilation of the submucusoal veins in the lower portion of the esophagus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:84081)
- Abnormal cerebral white matter morphology (HP:0002500): An abnormality of the cerebral white matter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:84081)
- Diffuse cerebral atrophy (HP:0002506): Diffuse unlocalised atrophy affecting the cerebrum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:84081)
- Congenital hepatic fibrosis (HP:0002612): The presence of fibrosis of that part of the liver with congenital onset. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:84081)
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:84081)
- Attention deficit hyperactivity disorder (HP:0007018): Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:84081)
- Carotid artery dilatation (HP:0012163): A dilatation (balooning or bulging out of the vessel wall) of a carotid artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:84081)
- Renal atrophy (HP:0012585): Atrophy of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:84081)
- Suicidal ideation (HP:0031589): Frequent thoughts about or preoccupation with killing oneself. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:84081)