Phenotypes associated with the disease Oligomeganephronia (ORPHA:2260):
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2260)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2260)
- Elevated circulating creatinine concentration (HP:0003259): An increased amount of creatinine in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2260)
- Decreased numbers of nephrons (HP:0005563): A reduction in the count of nephrons per kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2260)
- Decreased glomerular filtration rate (HP:0012213): An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2260)
- Abnormal nephron morphology (HP:0012575): A structural anomaly of the nephron. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2260)
- Bilateral renal hypoplasia (HP:0012584): Two sided hypoplasia of the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2260)
- Glomerulomegaly (HP:0030162): Abnormally large size of glomeruli. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2260)
- Renal tubular atrophy (HP:0000092): The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2260)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2260)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2260)
- 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: Frequent (HP:0040282). (ORPHA:2260)
- Abnormal renal cortex morphology (HP:0011035): An abnormality of the cortex of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2260)
- Abnormal medullary pyramid morphology (HP:0025361): A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2260)
- Dehydration (HP:0001944). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2260)
- Polydipsia (HP:0001959): Excessive thirst manifested by excessive fluid intake. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2260)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2260)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2260)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2260)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2260)
- Optic disc coloboma (HP:0000588): A cleft of the optic nerve that extends inferiorly. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2260)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2260)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2260)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2260)
- Secundum atrial septal defect (HP:0001684): A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2260)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2260)
- Pulmonary venous occlusion (HP:0006518): Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2260)
- Branchial cyst (HP:0009796): A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2260)
- Neurodevelopmental delay (HP:0012758): Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2260)
- Abnormality of limbs (HP:0040064). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2260)