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GTR Home > Conditions/Phenotypes > Familial hyperaldosteronism type III

Familial hyperaldosteronism type III

Synonyms
FH III; Familial hyperaldosteronism type 3
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Hyperaldosteronism type III (HALD3) is characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like patients with glucocorticoid-remediable aldosteronism (GRA, or HALD1; 103900), patients with HALD3 present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. However, hypertension and aldosteronism in HALD3 are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension (Geller et al., 2008). [from OMIM]

Available tests

36 tests are in the database for this condition.

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Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CIR, GIRK4, KATP1, KIR3.4, LQT13, KCNJ5
    Summary: potassium inwardly rectifying channel subfamily J member 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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