Disease - Pseudohypoaldosteronism 1B3, autosomal recessive
- DefinitionA form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss.
- AcronymPHA1B3
- Alternative names
- Cross references
Disclaimer
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.Related UniProtKB entry
Browse 1 entry- Amiloride-sensitive sodium channel subunit gamma · Gene: SCNN1G · Homo sapiens (Human) · 649 amino acids · Evidence at protein level · Annotation score: 5/5