Pseudohypoaldosteronism
Pseudohypoaldosteronism
About the Disease
Pseudohypoaldosteronism, Type I, Autosomal Recessive, also known as autosomal recessive pseudohypoaldosteronism type 1, is related to pseudohypoaldosteronism, type i, autosomal dominant and arthrogryposis, distal, type 3, and has symptoms including diarrhea and vomiting. An important gene associated with Pseudohypoaldosteronism, Type I, Autosomal Recessive is SCNN1A (Sodium Channel Epithelial 1 Subunit Alpha), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Enalaprilat and Enalapril have been mentioned in the context of this disorder. Affiliated tissues include kidney, colon and lung, and related phenotypes are hyponatremia and hyperkalemia
Common Targets
PIEZO2 | SCNN1A | KLHL3

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