Phenotype #0000171403

Individual ID 00226277
Associated disease PHA1B
Phenotype details Hyperkalemia (HP:0002153), muscle pain (HP:0003326), increased plasma renin activity (HP:0000841), hyperaldosteronism (HP0000859), metabolic acidosis (HP:0001942). Serum Na+, lower normal range; serum K+, upper normal range.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 32y (32 years)
Age/Diagnosis -
Age/Onset <00y01m
Phenotype/Onset Lethargy (HP:0001254), hypovolemia (HP:0011106), hyperkalemia (HP:0002153), metabolic acidosis (HP:0001942)
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 16:07:51 +01:00 (CET)
Date last edited 2019-03-08 19:30:05 +01:00 (CET)

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