Pseudohypoaldosteronism type 2D(PHA2D)

MedGen UID:: 483335
•Concept ID:: C3469605
•: Disease or Syndrome

Synonyms:	FAMILIAL HYPERKALEMIC HYPERTENSION; PHA2D; Pseudohypoaldosteronism Type IID; PSEUDOHYPOALDOSTERONISM, TYPE IID, AUTOSOMAL DOMINANT OR RECESSIVE
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). 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 recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	KLHL3 (5q31.2)

Monarch Initiative:	MONDO:0013781
OMIM®:	614495
Orphanet:	ORPHA300525

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

Additional description

From OMIM
Familial hyperkalemic hypertension, also known as type II pseudohypoaldosteronism (PHAII) or Gordon syndrome, is a rare autosomal dominant disease in which a net positive sodium ion balance is associated with renal potassium ion retention, resulting in hypertension, hyperkalemia, and hyperchloremic metabolic acidosis (summary by Louis-Dit-Picard et al., 2012). Genetic Heterogeneity of Type II Pseudohypoaldosteronism For a discussion of genetic heterogeneity of type II pseudohypoaldosteronism, see PHA2A (145260). http://www.omim.org/entry/614495