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 International |
| 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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