Phenotype #0000171405

Individual ID 00226279
Associated disease PHA1B
Phenotype details Hyperkalemia (HP:0002153), hyponatremia (HP:0002902), metabolic acidosis (HP:0001942), renal salt wasting (HP:0000127), hyperaldosteronism (HP:0000859), increased plasma renin activity (HP:0000841). Recurrent episodes of vomiting (HP.0002013), hyperkalemia (HP:0002153), salt wasting (HP:0000127), dehydration (HP:0001944) necessitated frequent hospitalisation.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset <00y01m
Phenotype/Onset Dehydration (HP:0001944), hypovolemic shock (HP:0031274)
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 16:56:08 +01:00 (CET)
Date last edited 2019-03-08 19:31:52 +01:00 (CET)

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