Phenotype #0000267020

Individual ID 00371680
Associated disease PHA1B
Phenotype details Dehydration, HP:0001944; elevated sweat chloride, HP:0012236; feeding difficulties, HP:0008872; raised plasma renin activity, HP:0000841; hyperaldosteronism, HP:0000859; hyperkalemia, HP:0002153; hyponatremia, HP:0002902; metabolic acidosis, HP:0001942; recurrent respiratory infections, HP:0002205; lethargy, HP:0001254; renal salt wasting, HP:0000127; vomiting, HP:0002013; skin rash, HP:0001047
Diagnosis/Initial Congenital adrenal hyperplasia (CAH)
Inheritance Familial, autosomal recessive
Diagnosis/Definite Autosomal recessive pseudohypoaldosteronism PHA1B)
Age/Examination -
Age/Diagnosis 00y02m
Age/Onset <00y01m
Phenotype/Onset Dehydration, HP:0001944; feeding difficulties, HP:0008872; hyperkalemia, HP:0002153; hyponatremia, HP:0002902; metabolic acidosis, HP:0001942; lethargy, HP:0001254; vomiting, HP:0001047
Protein -
Owner name Susan Tzotzos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Susan Tzotzos
Date created 2021-05-04 15:40:03 +02:00 (CEST)
Date last edited 2021-05-05 17:03:47 +02:00 (CEST)

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