Condition: Pseudohypoaldosteronism, Type I, Autosomal Recessive


rs137852635 in LOC107984500;SCNN1A gene and Pseudohypoaldosteronism, Type I, Autosomal Recessive PMID 15853823 2005 Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

PMID 10586178 1999 Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel.

PMID 18634878 2008 Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.

rs137852706 in SCNN1B gene and Pseudohypoaldosteronism, Type I, Autosomal Recessive PMID 8589714 1996 Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.