Pseudohypoaldosteronism, Type Iie malady
Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases
Aliases & Descriptions for Pseudohypoaldosteronism, Type Iie:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)
pseudohypoaldosteronism type 2:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: adult
pseudohypoaldosteronism, type iie:
Inheritance: autosomal dominant inheritance
Penetrance: penetrance of the disorder is high...
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases, Nephrological diseases
NIH Rare Diseases:47 Psuedohypoaldosteronism type 2 is an inborn error of metabolism. It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis. It is caused by mutations in the WNK1 or WNK4 gene. Treatment may involve dietary restriction of sodium and hydrochlorothiazide. Last updated: 12/2/2011
MalaCards based summary: Pseudohypoaldosteronism, Type Iie, also known as pseudohypoaldosteronism type 2, is related to pseudohypoaldosteronism, type iia and pseudohypoaldosteronism, type iid, and has symptoms including hypertension, hyperkalemia and flexion contracture. An important gene associated with Pseudohypoaldosteronism, Type Iie is CUL3 (Cullin 3). Affiliated tissues include kidney.
Genetics Home Reference:25 Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect regulation of the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys.
UniProtKB/Swiss-Prot:69 Pseudohypoaldosteronism 2E: An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics.
Description from OMIM:51 614496
GeneReviews for NBK65707
Human phenotypes related to Pseudohypoaldosteronism, Type Iie:63 53 (show all 13)
MalaCards organs/tissues related to Pseudohypoaldosteronism, Type Iie:35
UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoaldosteronism, Type Iie:69
Clinvar genetic disease variations for Pseudohypoaldosteronism, Type Iie:5 (show all 50)
Search GEO for disease gene expression data for Pseudohypoaldosteronism, Type Iie.
Cellular components related to Pseudohypoaldosteronism, Type Iie according to GeneCards Suite gene sharing:
Biological processes related to Pseudohypoaldosteronism, Type Iie according to GeneCards Suite gene sharing:
Molecular functions related to Pseudohypoaldosteronism, Type Iie according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet