Pseudohypoaldosteronism, type iid

Preferred Label : Pseudohypoaldosteronism, type iid;

Symbol : PHA2D;

CISMeF acronym : FHHT; PHA2D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FHHT; Familial hyperkalemic hypertension;

Description : 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).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the kelch-like 3 gene (KLHL3, 605775.0001);

Laboratory abnormalities : Hyperkalemia ( 6.2 mM in both dominant and recessive); Hyperchloremia (mean 110 mM in both dominant and recessive);

Prefixed ID : #614495;

Details

Origin ID

614495;

UMLS CUI

C3469605;

Automatic exact mappings (from CISMeF team)
- Hyperkalemic Mineralocorticoid Resistance [NCIt concept]
- Pseudohypoaldosteronism type 2 [ORDO Disease]
Currated CISMeF NLP mapping
- Pseudohypoaldosteronism type 2D [ORDO Disease]
Genes related to phenotype
- Kelch-like 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hyperchloremia [HPO term]
- Hyperchloremic metabolic acidosis [HPO term]
- Hyperkalemia [HPO term]
- Hypertension [HPO term]
- Pseudohypoaldosteronism [HPO term]
ORDO concept(s)
- Pseudohypoaldosteronism type 2 [ORDO Disease]
- Pseudohypoaldosteronism type 2D [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudohypoaldosteronism type 2D [ORDO Disease]

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