Preferred Label : Pseudohypoaldosteronism, type iia;
Symbol : PHA2A;
CISMeF acronym : PHA2A;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Hyperpotassemia and hypertension, familial; Hypertensive hyperkalemia, familial; Gordon hyperkalemia-hypertension syndrome;
Description : 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
are variable associated findings (summary by Mansfield et al., 1997). - Genetic Heterogeneity
of Pseudohypoaldosteronism Type II A locus, PHA2A, has been mapped to chromosome 1q31-q42.
PHA2B (614491) is caused by mutations in the WNK4 gene on chromosome 17q21 (601844).
PHA2C (614492) is caused by mutations in the WNK1 gene on chromosome 12p13 (605232).
PHA2D (614495) is caused by mutations in the KLHL3 gene (605775) on chromosome 5q31.
PHA2E (614496) is caused by mutations in the CUL3 gene (603136) on chromosome 2q36.
Boyden et al. (2012) observed that families with PHAII due to mutation in the WNK1
gene (PHA2C) are significantly less severely affected than those with mutation in
WNK4 (PHA2B) or dominant or recessive mutation in the KLHL3 gene (PHA2D), and all
are less severely affected than those with dominant mutations in the CUL3 gene (PHA2E).;
Inheritance : Autosomal dominant;
Laboratory abnormalities : Hyperkalemia;
Prefixed ID : %145260;
Origin ID : 145260;
UMLS CUI : C1840389;
Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
