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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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2019
2019
Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism
Interstitial and terminal deletions of chromosome 4q have been described for many years and have variable phenotypes depending on… 
2017
2017
Clinical Manifestation and Molecular Analysis of Three Korean Patients with the Renal Form of Pseudohypoaldosteronism Type 1.
Pseudohypoaldosteronism (PHA) type 1 is a rare, heterogeneous disease characterized by hyponatremia and hyperkalemia due to… 
2013
2013
Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by resistance to the actions of aldosterone… 
2013
2013
A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1
Abstract Systemic pseudohypoaldosteronism type 1 (PHA1) is characterized by excessive salt loss from the renal tubulus, colon… 
2012
2012
Unique eyelid manifestations in type 1 pseudohypoaldosteronism
Familial pseudohypoaldosteronism type 1 (PHA1) occurs in two genetically and clinically distinguishable variants. Autosomal… 
2011
2011
Structural chromosome disruption of the NR3C2 gene causing pseudohypoaldosteronism type 1 presenting in infancy
Abstract Type I pseudohypoaldosteronism (PHA1) is a rare form of mineralocorticoid resistance presenting in infancy with renal… 
2007
2007
Exclusion of Serum- and Glucocorticoid-Induced Kinase 1 (SGK1) as a Candidate Gene for Genetically Heterogeneous Renal Pseudohypoaldosteronism Type I in Eight Families
Objective: Autosomal-dominant pseudohypoaldosteronism type 1 (PHA1) is mostly caused by mutations in the mineralocorticoid… 
2004
2004
Genetic Heterogeneity in Autosomal Dominant Pseudohypoaldosteronism Type I: Exclusion of Claudin-8 as a Candidate Gene
Background/Aims: Pseudohypoaldosteronism type I (PHAI) is an inherited disorder characterized by renal salt wasting, hyperkalemic… 
Review
2000
Review
2000
Amiloride-sensitive sodium channels contribute to the woes of the flu.
Major discomforts with influenza infections and other types of respiratory infection are runny nose, airway congestion, and… 
1994
1994
A Partial Form of Pseudohypoaldosteronism Type I Without Renal Sodium Wasting
Multiple target organ involvement in pseudohypoaldosteronism is known but partial defects involving only a single organ system… 
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