Hyperaldosteronism, familial, type II

Preferred Label : Hyperaldosteronism, familial, type II;

Symbol : HALD2;

CISMeF acronym : HALD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fh II;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of familial hyperaldosteronism, see FH I (103900).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chloride channel 2 gene (CLCN2, 600570.0010);

Laboratory abnormalities : Increased aldosterone:renin ratio; Hypokalemia (in some patients); Increased serum aldosterone; Decreased renin;

Prefixed ID : #605635;

Details

Origin ID

605635;

UMLS CUI

C1854107;

Automatic exact mappings (from CISMeF team)
- Familial hyperaldosteronism type 2 [ICD-11 More detail]
Currated CISMeF NLP mapping
- Familial Hyperaldosteronism Type 2 [NCIt concept]
- Familial hyperaldosteronism type 2 (disorder) [SNOMED CT concept]
- Familial hyperaldosteronism type II [ORDO Disease]
- familial hyperaldosteronism type II [Disease (Nov.)]
- hyperaldosteronism, familial, type II [MeSH concept]
- hyperaldosteronism, familial, type II [MeSH Supplementary Concept]
DO Cross reference
- primary hyperaldosteronism [DO Concept]
Genes related to phenotype
- Chloride channel 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypertension [HPO term]
- Hypokalemia [HPO term]
- Incomplete penetrance [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Familial hyperaldosteronism type II [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Hyperaldosteronism Type 2 [NCIt concept]
- Familial hyperaldosteronism type 2 (disorder) [SNOMED CT concept]
- Familial hyperaldosteronism type II [ORDO Disease]
- hyperaldosteronism, familial, type II [MeSH Supplementary Concept]
- hyperaldosteronism, familial, type II [MeSH concept]

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