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Pseudohypoaldosteronism type 2E(PHA2E)

MedGen UID:
483336
Concept ID:
C3469606
Disease or Syndrome
Synonyms: PHA2E; Pseudohypoaldosteronism Type IIE
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): CUL3 (2q36.2)
 
Monarch Initiative: MONDO:0013782
OMIM®: 614496
Orphanet: ORPHA300530

Disease characteristics

Excerpted from the GeneReview: Pseudohypoaldosteronism Type II
Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described. [from GeneReviews]
Authors:
David H Ellison   view full author information

Clinical features

From HPO
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Hyperkalemia
MedGen UID:
5691
Concept ID:
C0020461
Finding
An abnormally increased potassium concentration in the blood.
Hyperchloremia
MedGen UID:
39325
Concept ID:
C0085679
Disease or Syndrome
An abnormally increased chloride concentration in the blood.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Hyperchloremic metabolic acidosis
MedGen UID:
369924
Concept ID:
C1969073
Disease or Syndrome
A form of metabolic acidosis with increased serum chloride levels.
Pseudohypoaldosteronism
MedGen UID:
18721
Concept ID:
C0033805
Disease or Syndrome
A state of renal tubular unresponsiveness or resistance to the action of aldosterone.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Pseudohypoaldosteronism type 2E in Orphanet.

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