Phenotypes associated with the disease Generalized pseudohypoaldosteronism type 1 (ORPHA:171876):
- Increased circulating renin concentration (HP:0000848): An increased level of renin in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:171876)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:171876)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:171876)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:171876)
- Glucocortocoid-insensitive primary hyperaldosteronism (HP:0011740): A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:171876)
- Abnormal circulating aldosterone concentration (HP:0040085). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:171876)
- Failure to thrive in infancy (HP:0001531). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171876)
- Dehydration (HP:0001944). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171876)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171876)
- Hypovolemic shock (HP:0031274): A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171876)
- Recurrent upper and lower respiratory tract infections (HP:0200117): Increased susceptibility to upper and lower respiratory tract infections as manifested by recurrent episodes of upper and lower respiratory tract infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:171876)
- Atopic dermatitis (HP:0001047): Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171876)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171876)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171876)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171876)
- Proportionate short stature (HP:0003508): A kind of short stature in which different regions of the body are shortened to a comparable extent. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171876)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171876)
- Recurrent tonsillitis (HP:0011110): Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171876)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171876)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171876)
- Wheezing (HP:0030828): A high-pitched whistling sound associated with labored breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171876)
- Pustule (HP:0200039): A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:171876)