Pseudohypoaldosteronism Type I, Autosomal Dominant malady
Categories: Genetic diseases, Rare diseases, Nephrological diseases, Cardiovascular diseases
Aliases & Descriptions for Pseudohypoaldosteronism Type I, Autosomal Dominant:
Orphanet epidemiological data:53
autosomal dominant pseudohypoaldosteronism type 1:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases, Cardiovascular diseases
Rare renal diseases
OMIM:51 Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal... (177735) more...
MalaCards based summary: Pseudohypoaldosteronism Type I, Autosomal Dominant, also known as pseudohypoaldosteronism, type i, autosomal dominant, is related to pseudohypoaldosteronism, type i and pseudohypoaldosteronism, and has symptoms including hyperactive renin-angiotensin system, increased circulating renin level and hyperaldosteronism. An important gene associated with Pseudohypoaldosteronism Type I, Autosomal Dominant is NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2). Affiliated tissues include kidney.
NIH Rare Diseases:47 Autosomal dominant pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration. Patients typically present in the newborn period, improve with age, and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. Autosomal dominant pseudohypoaldosteronism type 1 (PHA1A) exhibits autosomal dominant inheritance with variable expression. It is caused by by mutations in the mineralocorticoid receptor gene (NR3C2). Last updated: 12/2/2011
UniProtKB/Swiss-Prot:69 Pseudohypoaldosteronism 1, autosomal dominant: A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment.
Diseases in the Pseudohypoaldosteronism family:
Diseases related to Pseudohypoaldosteronism Type I, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:
Human phenotypes related to Pseudohypoaldosteronism Type I, Autosomal Dominant:63 (show all 13)
UMLS symptoms related to Pseudohypoaldosteronism Type I, Autosomal Dominant:diarrhea, vomiting
MalaCards organs/tissues related to Pseudohypoaldosteronism Type I, Autosomal Dominant:35
UniProtKB/Swiss-Prot genetic disease variations for Pseudohypoaldosteronism Type I, Autosomal Dominant:69 (show all 13)
Clinvar genetic disease variations for Pseudohypoaldosteronism Type I, Autosomal Dominant:5 (show all 19)
Search GEO for disease gene expression data for Pseudohypoaldosteronism Type I, Autosomal Dominant.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet