Phenotype #0000171398

Individual ID 00226272
Associated disease PHA1B
Phenotype details Elevated sweat chloride (HP:0012236), renal salt wasting (HP:0000127), hyponatremia (HP:0002902), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942), hyperreninemia (plasma renin activity > 10 ng/mL/h (HP:0000841), hyperaldosteronism (HP:0000859), recurrent respiratory infections (HP:0002205), tachypnea (HP:0002789)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset <00y01m
Phenotype/Onset Salt wasting (HP:0000127), electrolyte disturbances
Protein -
Owner name Susan Tzotzos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Susan Tzotzos
Date created 2019-03-06 13:46:24 +01:00 (CET)
Date last edited 2021-02-09 09:31:29 +01:00 (CET)

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