Pseudohypoaldosteronism, type iie

Preferred Label : Pseudohypoaldosteronism, type iie;

Symbol : PHA2E;

CISMeF acronym : PHA2E;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cullin 3 gene (CUL3, 603136.0001);

Laboratory abnormalities : Hyperchloremia (mean 114 mM); Hyperkalemia (7.5 /- 0.9 mM);

Prefixed ID : #614496;

Détails

Origin ID

614496;

UMLS CUI

C3469606;

Automatic exact mappings (from CISMeF team)
- CUL3 wt Allele [NCIt concept]
- Pseudohypoaldosteronism type 2 [ORDO Disease]
Currated CISMeF NLP mapping
- Pseudohypoaldosteronism type 2E [ORDO Disease]
Genes related to phenotype
- Cullin 3 [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 2E [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudohypoaldosteronism type 2E [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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