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Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.
Features include always present findings: Hyperkalemia, Increased circulating aldosterone concentration, Hyponatremia, and Dehydration and others; and very common findings: Increased circulating renin concentration, Glucocortocoid-insensitive primary hyperaldosteronism, and Abnormal circulating aldosterone concentration. 30 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 4 | Diarrhea, Vomiting, Feeding difficulties in infancy |
Growth and development | 4 | Failure to thrive, Failure to thrive in infancy, Weight loss |
Lungs and breathing | 3 | Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Wheezing |
Lab test results | 2 | Increased circulating aldosterone concentration, Increased circulating renin concentration |
Blood and immune system | 2 | Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections |
Kidneys and urinary system | 1 | Renal salt wasting |
Muscles | 1 | Renal salt wasting |
Metabolism | 1 | Metabolic acidosis |
Skin | 1 | Atopic dermatitis |
Bones and joints | 1 | Bone infection (osteomyelitis) |
Heart and blood vessels | 1 | Arrhythmia |
SCNN1A function has not been fully characterized.
Pseudohypoaldosteronism, type IB1, autosomal recessive is strongly associated with mutations in the SCNN1A gene on chromosome 12.
Genetic testing for SCNN1A is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 6 always present features, 3 very common features, 3 common features.
No clinical trials have been registered for pseudohypoaldosteronism, type IB1, autosomal recessive.
4 publications have been identified in PubMed for pseudohypoaldosteronism, type IB1, autosomal recessive. Research spans Case Report / Case Series (100%).
Wu Z (2026). [PMID: 41982973](https://pubmed.ncbi.nlm.nih.gov/41982973/). *Transl Pediatr*. [Case Report / Case Series]
Alshaikh R (2025). [PMID: 40398899](https://pubmed.ncbi.nlm.nih.gov/40398899/). *BMJ Case Rep*. [Case Report / Case Series]
Centonze E (2025). [PMID: 40969802](https://pubmed.ncbi.nlm.nih.gov/40969802/). *Front Med (Lausanne)*. [Case Report / Case Series]
Saffari F (2024). [PMID: 38963175](https://pubmed.ncbi.nlm.nih.gov/38963175/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center