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Pseudohypoaldosteronism, Type I

Known as: Pseudohypoaldosteronism Type Is, Type Is, Pseudohypoaldosteronism, Pseudohypoaldosteronism Type I 
Rare autosomal disorder of renal electrolyte transport dysfunctions. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA… 
National Institutes of Health

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Pseudohypoaldosteronism

Papers overview

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Review
2016
Review
2016
Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.
Review
2009
Review
2009
Activation of the epithelial sodium channel (ENaC) by serine proteases.
The study of human monogenic diseases [pseudohypoaldosteronism type 1 (PHA-1) and Liddle's syndrome] as well as mouse models… 
Review
2002
Review
2002
Epithelial sodium channel and the control of sodium balance: interaction between genetic and environmental factors.
The epithelial sodium channel (ENaC) expressed in aldosterone-responsive epithelial cells of the kidney and colon plays a… 
Review
2002
Review
2002
Concerted action of ENaC, Nedd4-2, and Sgk1 in transepithelial Na(+) transport.
The epithelial Na(+) channel (ENaC), located in the apical membrane of renal aldosterone-responsive epithelia, plays an essential… 
Highly Cited
1999
Highly Cited
1999
Disruption of the beta subunit of the epithelial Na+ channel in mice: hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype.
The epithelial Na+ channel (ENaC) is composed of three homologous subunits: alpha, beta and gamma. We used gene targeting to… 
Highly Cited
1998
Highly Cited
1998
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I
Pseudohypoaldosteronism type I (PHA1) is characterized by neonatal renal salt wasting with dehydration, hypotension… 
Highly Cited
1997
Highly Cited
1997
Regulation of stability and function of the epithelial Na+ channel (ENaC) by ubiquitination
The epithelial Na+ channel (ENaC), composed of three subunits (αβγ), plays a critical role in salt and fluid homeostasis… 
Highly Cited
1996
Highly Cited
1996
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
Autosomal recessive pseudohypoaldosteronism type I is a rare life-threatening disease characterized by severe neonatal salt… 
Highly Cited
1996
Highly Cited
1996
A novel spice–site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families
Pseudohypoaldosteronism type 1 (PHA1, OMIM 264350) is an uncommon inherited disorder characterized by salt-wasting and end-organ… 
Review
1991
Review
1991
Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects.
Type I pseudohypoaldosteronism (PHA) is a hereditary disease characterized by salt wasting resulting from target organ… 
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