| umls-concept:C0268436 | skos:definition | MSH: Rare autosomal disorder of renal electrolyte transport dysfunctions. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Loss of function mutations in EPITHELIAL SODIUM CHANNELS subunits (autosomal dominant) or MINERALOCORTICOID RECEPTORS (autosomal recessive) cause the disorder. Different mutations in EPITHELIAL SODIUM CHANNELS subunits cause Liddle syndrome. | lld:umls |
