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PHA2A Pseudohypoaldosteronism type II (gene A) [ Homo sapiens (human) ]

Gene ID: 7830, updated on 31-Aug-2024

Summary

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Official Symbol
PHA2Aprovided by HGNC
Official Full Name
Pseudohypoaldosteronism type II (gene A)provided by HGNC
Primary source
MIM:145260
Gene type
unknown
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PHA2
Summary
Pseudohypoaldosteronism type II, also known as Gordon hyperkalemia-hypertension syndrome, is characterized by hyperkalemia despite normal renal glomerular filtration, hypertension, and correction of physiologic abnormalities by thiazide diuretics. Mild hyperchloremia, metabolic acidosis, and suppressed plasma renin activity are variable associated findings.[supplied by OMIM, Jul 2002]

Genomic context

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Location:
1q31-q42

Bibliography

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GeneRIFs: Gene References Into Functions

Phenotypes

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Associated conditions

Description Tests
Pseudohypoaldosteronism type II (gene A)
OMIM: 145260GeneReviews: Not available

General gene information

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Property

  • phenotype only

Gene LinkOut

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