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. 2001 Jan;51(1):5–11. doi: 10.1046/j.1365-2125.2001.01254.x

Table 1.

Molecular basis for known familial (monogenic) hypertension syndromes.

Monogenic syndrome Mode of inheritance Gene product Chromosomal location
Apparent mineralocorticoid excess (AME) Recessive Non-functional 11-β-hydroxy steroid dehydrogenase (11β-HSD Type 2) enzyme 16q
Glucocorticoid remediable aldosteronism (GRA) Dominant Hybrid aldosterone synthase (CYP11B2) enzyme expressed under ACTH control 8p
Hypertensive forms of congenital adrenal hyperplasia Recessive Non-functional forms of the corresponding hydroxylases 8q21 and 10q24
(11-β and 17-α hydroxylase types) (CYP11B1 and CYP17A)
Liddle's Syndrome (pseudo-aldosteronism) Dominant Constitutively expressed amiloride-sensitive sodium channel in distal nephron 16p