Pseudohypoaldosteronism, type iib

Preferred Label : Pseudohypoaldosteronism, type iib;

Symbol : PHA2B;

CISMeF acronym : PHA2B;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the WNK lysine deficient protein kinase 4 gene (WNK4, 601844.0001);

Laboratory abnormalities : Hyperkalemia (6.4 /- 0.7 mM); Hyperchloremia (mean 111 mM);

Prefixed ID : #614491;

Details

Origin ID

614491;

UMLS CUI

C1840390;

Currated CISMeF NLP mapping
- Pseudohypoaldosteronism type 2B [ORDO Disease]
- pseudohypoaldosteronism, type IIb [MeSH concept]
- pseudohypoaldosteronism, type IIb [MeSH Supplementary Concept]
Genes related to phenotype
- Protein kinase, lysine-deficient 4 [OMIM gene]
HPO term(s)
- Autosomal dominant 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 2B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudohypoaldosteronism type 2B [ORDO Disease]
- pseudohypoaldosteronism, type IIb [MeSH Supplementary Concept]
- pseudohypoaldosteronism, type IIb [MeSH concept]

Keyword's position in hierarchy(ies) :

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