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. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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Hyperkalemia

MedGen UID:: 5691
•Concept ID:: C0020461
•: Finding

An abnormally increased potassium concentration in the blood.

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Hyperchloremia

MedGen UID:: 39325
•Concept ID:: C0085679
•: Disease or Syndrome

An abnormally increased chloride concentration in the blood.

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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.

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Hyperchloremic metabolic acidosis