Pseudohypoaldosteronism type 2A

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERTENSIVE HYPERKALEMIA, FAMILIAL
HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL
GORDON HYPERKALEMIA-HYPERTENSION SYNDROME
PHA2A
Number of Symptoms 3
OrphanetNr: 88938
OMIM Id: 145260
ICD-10: I15.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Pseudohypoaldosteronism type 2
 -Rare circulatory system disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0002153) Hyperkalemia 25 / 7739
2
(OMIM) Muscle aches, intermittent 1 / 7739
3
(OMIM) Hypertension, mild 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pseudohypoaldosteronism type II (PHAII), 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 (179820) activity ...
Clinical Description OMIM Brautbar et al. (1978) described a 52-year-old man with hypertension, persistent hyperkalemia, and hyperchloremic metabolic acidosis. Four other members of the family, including the brother and son of the proband, were identically affected. Renal and adrenal functions were ...