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

Authors:

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