Hyperaldosteronism, familial, type I

Preferred Label : Hyperaldosteronism, familial, type I;

Symbol : HALD1;

CISMeF acronym : GRA; GSH; HALD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aldosteronism, sensitive to dexamethasone; Glucocorticoid-remediable aldosteronism; Glucocorticoid-suppressible hyperaldosteronism; GRA; Acth-dependent hyperaldosteronism syndrome; GSH; Fh I;

Description : Glucocorticoid-remediable aldosteronism is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol (Lifton et al., 1992). There is significant phenotypic heterogeneity, and some individuals never develop hypertension (Stowasser et al., 2000). - Genetic Heterogeneity of Familial Hyperaldosteronism Familial hyperaldosteronism type II (605635) has been mapped to chromosome 7p22. Familial hyperaldosteronism type III (613677) is caused by mutation in the KCNJ5 gene (600734) on chromosome 11q24.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by fusion of the cytochrome P450, subfamily XIB, polypeptide 1 gene (CYP11B1, 610613) and the cytochrome P450, subfamily XIB, polypeptide 2 gene (CYP11B2, 124080);

Laboratory abnormalities : Normal or decreased serum potassium; Increased aldosterone; Low plasma renin activity; Increased 18-oxocortisol; Increased 18-hydroxycortisol;

Prefixed ID : #103900;

Details

Origin ID

103900;

UMLS CUI

C3838731;

Automatic exact mappings (from CISMeF team)
- Glutathione [NCIt concept]
Currated CISMeF NLP mapping
- Familial Hyperaldosteronism Type 1 [NCIt concept]
- Familial hyperaldosteronism type 1 [ICD-11 More detail]
- Familial hyperaldosteronism type 1 (disorder) [SNOMED CT concept]
- Familial hyperaldosteronism type I [ORDO Disease]
- Glucocorticoid Suppressible Hyperaldosteronism [NCIt concept]
- Glucocorticoid-Remediable aldosteronism [MeSH concept]
- Glucocorticoid-Remediable aldosteronism [MeSH Supplementary Concept]
- Glucocorticoid-remediable aldosteronism [ICD-9 code]
- Glucocorticoid-suppressible hyperaldosteronism (disorder) [SNOMED CT concept]
- familial hyperaldosteronism type I [Disease (Nov.)]
- glucocorticoid-remediable aldosteronism [DO Concept]
DO Cross reference
- glucocorticoid-remediable aldosteronism [DO Concept]
False automatic mappings
- Glutathione.reduced [LOINC component]
- glutathione [MeSH Descriptor]
- reduced glutathione [MeSH concept]
- reduced glutathione [SNOMED Notion]
Genes related to phenotype
- Cytochrome p450, subfamily xib, polypeptide 1 [OMIM gene]
HPO term(s)
- Abnormality of the urinary system [HPO term]
- Adrenal hyperplasia [HPO term]
- Adrenogenital syndrome [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased circulating renin level [HPO term]
- Hyperaldosteronism [HPO term]
- Hypertension [HPO term]
- Onset [HPO term]
- Variable age at onset [HPO term]
ORDO concept(s)
- Familial hyperaldosteronism type I [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Hyperaldosteronism Type 1 [NCIt concept]
- Familial hyperaldosteronism type 1 (disorder) [SNOMED CT concept]
- Familial hyperaldosteronism type I [ORDO Disease]
- Glucocorticoid Suppressible Hyperaldosteronism [NCIt concept]
- Glucocorticoid-Remediable aldosteronism [MeSH Supplementary Concept]
- Glucocorticoid-Remediable aldosteronism [MeSH concept]
- Glucocorticoid-remediable aldosteronism [ICD-9 code]
- Glucocorticoid-suppressible hyperaldosteronism (disorder) [SNOMED CT concept]
- familial hyperaldosteronism type I [Disease (Nov.)]
- glucocorticoid-remediable aldosteronism [DO Concept]

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