Hyperaldosteronism, familial, type III

Preferred Label : Hyperaldosteronism, familial, type III;

Symbol : HALD3;

CISMeF acronym : HALD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fh III;

Description : This form of hyperaldosteronism is characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like patients with glucocorticoid-remediable aldosteronism (GRA, or FH I; 103900), patients with FH III present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. However, hypertension and aldosteronism in FH III are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension (Geller et al., 2008).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the member-5 subfamily-J inwardly rectifying potassium channel gene (KCNJ5, 600734.0002);

Laboratory abnormalities : Hypercalciuria (in some patients); Hypokalemia; Paradoxical increase or no change in serum aldosterone and blood pressure after dexamethasone administration; Decreased plasma renin activity;

Prefixed ID : #613677;

Details

Origin ID

613677;

UMLS CUI

C3838758;

Automatic exact mappings (from CISMeF team)
- Familial hyperaldosteronism type 3 [ICD-11 More detail]
Currated CISMeF NLP mapping
- Familial Hyperaldosteronism Type 3 [NCIt concept]
- Familial hyperaldosteronism type 3 (disorder) [SNOMED CT concept]
- Familial hyperaldosteronism type III [ORDO Disease]
DO Cross reference
- primary hyperaldosteronism [DO Concept]
Genes related to phenotype
- Potassium channel, inwardly rectifying, subfamily j, member 5 [OMIM gene]
HPO term(s)
- Adrenal hyperplasia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased circulating renin level [HPO term]
- Hyperaldosteronism [HPO term]
- Hypercalciuria [HPO term]
- Hypertension [HPO term]
- Hypokalemia [HPO term]
- Metabolic acidosis [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
ORDO concept(s)
- Familial hyperaldosteronism type III [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Hyperaldosteronism Type 3 [NCIt concept]
- Familial hyperaldosteronism type 3 (disorder) [SNOMED CT concept]
- Familial hyperaldosteronism type III [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients