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GENATLAS PHENOTYPE

last update : 23-04-2009

Symbol	PHA1A1
Location	16p12.2
Name	pseudohypoaldosteronism, type 1
Corresponding gene	SCNN1B , SCNN1G
Main clinical features	salt wasting in infancy that is responsive to supplementary sodium but not to mineralocorticoids marked aldosterone excess and the renin level is increased in most, sweat and salivary glands and colonic mucosa are unresponsive to mineralocorticoids as is the distal renal tubule
Genetic determination	autosomal recessive
Function/system disorder	endocrinology
Type	disease

Gene product

Name	epithelial amiloride-sensitive sodium channel, beta subunit (SCNN1B) or gamma subunit (SCNN1G)

Remark(s)