Monogenic hypertension syndromes

Common name	Full name(s)	Mode of inheritance	Genes mutated	Plasma renin	Plasma aldosterone	Associated features
Elevated plasma aldosterone
GRA	Glucocorticoid remediable aldosteronism Familial hyperaldosteronism type 1 Glucocorticoid suppressible hyperaldosteronism	AD	CYP11B2	Low	High	Potassium often normal, high prevalence of intracranial aneurysms
Gordon syndrome	Pseudohypoaldosteronism type II (PHA2)	AR and AD	WNK1, WNK4	Low	High	Hyperkalemia, responsive to thiazide diuretics
	Gordon hyperkalemia-hypertension syndrome	AR and AD	KLHL3
	Familial hyperkalemic hypertension (FHHT)	AR and AD	CUL3
HALD 2-4	Familial hyperaldosteronism type II	AD	CLCN2	Low	High	Hypokalemia
	Familial hyperaldosteronism type III	AD	KCNJ5
	Familial hyperaldosteronism type IV	AD	CACNA1H
Low plasma aldosterone
Liddle syndrome	Pseudoaldosteronism	AD	SCNN1B, SCNN1G	Low	Low	Hypokalemia, responsive to amiloride
AME	Cortisol 11-beta-ketoreductase deficiency Syndrome of apparent mineralocorticoid excess	AR	HSD11B2	Low	Low	Hypokalemia
HTNB	Hypertension and brachydactyly syndrome Bilginturan syndrome	AD	PDE3A	Low	Low	Brachydactyly
Geller syndrome	Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy Autosomal dominant hypertension with exacerbation in pregnancy	AD	NR3C2	Low	Low	Hypertension and hypokalemia during pregnancy
CAH	Congenital adrenal hyperplasia type IV	AR	CYP11B1	Low	Low	Hypokalemia, virilization (type IV)
CAH	Congenital adrenal hyperplasia type V	AR	CYP17A1	Low	Low	Hypogonadism (type V)

For each monogenic hypertension syndrome the mode of inheritance, the genes mutated, and typical plasma renin and aldosterone levels are indicated.

AD: autosomal dominant; AR: autosomal recessive.

Graphic 105744 Version 4.0