Pseudohypoaldosteronism, type iic

Preferred Label : Pseudohypoaldosteronism, type iic;

Symbol : PHA2C;

CISMeF acronym : PHA2C;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the WNK lysine deficient protein kinase 1 gene (WNK1, 605232.0001);

Laboratory abnormalities : Hyperkalemia (5.8 /- 0.8 mM); Hyperchloremia (mean 109 mM);

Prefixed ID : #614492;

Details

Origin ID

614492;

UMLS CUI

C1840391;

Automatic exact mappings (from CISMeF team)
- Pseudohypoaldosteronism type 2 [ORDO Disease]
- WNK1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Pseudohypoaldosteronism type 2C [ORDO Disease]
- pseudohypoaldosteronism, type IIc [MeSH concept]
- pseudohypoaldosteronism, type IIc [MeSH Supplementary Concept]
Genes related to phenotype
- Protein kinase, lysine-deficient 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hyperchloremia [HPO term]
- Hyperchloremic metabolic acidosis [HPO term]
- Hyperkalemia [HPO term]
- Hypertension [HPO term]
- Metabolic acidosis [HPO term]
- Pseudohypoaldosteronism [HPO term]
ORDO concept(s)
- Pseudohypoaldosteronism type 2 [ORDO Disease]
- Pseudohypoaldosteronism type 2C [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudohypoaldosteronism type 2C [ORDO Disease]
- pseudohypoaldosteronism, type IIc [MeSH Supplementary Concept]
- pseudohypoaldosteronism, type IIc [MeSH concept]

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