Version June 2024
| Gene(s) | Chromosome position | Disease name and MIM identifier | Key features of clinical syndrome (other than hypertension) | Mode of inheritance and genetic mechanism |
| CACNA1H (calcium voltage-gated channel subunit alpha1 H gene) | 16p | Familial hyperaldosteronism type IV MIM 607904 | Hypokalemia | AD; GOF |
| CLCN2 (chloride voltage-gated channel 2 gene) | 3q | Familial hyperaldosteronism type II MIM 605635 | Hypokalemia | AD; GOF |
| CUL3 (cullin 3 gene) | 2q | Pseudohypoaldosteronism type 2 (PHA2; Gordon syndrome) PHA2E MIM 614496 | Hyperkalemia, response to thiazides | AD; LOF |
| CYP11B1 (cytochrome P450 family 11 subfamily B member 1 gene) | 8q | CAH due to 11-beta-hydroxylase deficiency (CAH type IV) MIM 202010 | Hypokalemia, virilization (variable); two-thirds of patients have severe "classic form" with hypertension in first years of life | AR; LOF |
| CYP11B2 (cytochrome P450 family 11 subfamily B member 2 gene) | 8p | Familial hyperaldosteronism type I (glucocorticoid-remediable aldosteronism) MIM 103900 | Low plasma renin, increased aldosterone, response to dexamethasone; high genetic heterogeneity and potassium level often normal; high prevalence of intracranial aneurysms | AD; GOF; gene expressed under ACTH control (fusion of the promoter region of the gene for CYP11B1 and the coding sequences of CYP11B2) |
| CYP17A1 (cytochrome P450 family 17 subfamily A member 1 gene) | 10q | CAH due to 17-alpha-hydroxylase deficiency (CAH type V) MIM 202110 | Hypokalemia, hypogonadism/androgen deficiency | AR; LOF |
| HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2 gene) | 16q | Cortisol 11-beta-ketoreductase deficiency (syndrome of apparent mineralocorticoid excess) MIM 218030 | Hypokalemia, low plasma renin, response to spironolactone | AR; LOF |
| KCNJ5 (potassium inwardly rectifying channel subfamily J member 5 gene) | 11q | Familial hyperaldosteronism type III MIM 613677 | Hypokalemia, high aldosterone, high 18-oxocortisol and 18-hydroxycortisol | AD; LOF |
| KLHL3 (kelch like family member 3 gene) | 5q | Pseudohypoaldosteronism type 2 (PHA2; Gordon syndrome) PHA2D MIM 614495 | Hyperkalemia, response to thiazides | AD or AR; LOF (inhibition of KLHL3 increases the activity of SLC12A3) |
| NR3C2 (nuclear receptor subfamily 3 group C member 2 gene) | 4q | Early-onset AD hypertension with exacerbation in pregnancy (Geller syndrome) MIM 605115 | Severe hypertension in pregnancy | AD; GOF |
| PDE3A (phosphodiesterase 3A gene) | 12p | AD hypertension with brachydactyly MIM 123805 | Brachydactyly | AD; GOF |
| SCNN1B, SCNN1G (sodium channel epithelial 1 subunit beta and gamma genes) | 16p | Liddle's syndrome (pseudoaldosteronism) MIM 177200 | Hypokalemia, metabolic alkalosis, low plasma renin, low aldosterone, response to amiloride | AD; GOF |
| WNK1 (WNK lysine deficient protein kinase 1 gene) | 12p | Pseudohypoaldosteronism type 2 (PHA2; Gordon syndrome) PHA2C MIM 614492 | Hyperkalemia, response to thiazides | AR; GOF |
| WNK4 (WNK lysine deficient protein kinase 4 gene) | 12p | Pseudohypoaldosteronism type 2 (PHA2; Gordon syndrome) PHA2B MIM 614491 | Hyperkalemia, response to thiazides | AR; LOF; ± expression of the thiazide-sensitive Na-Cl co-transporter SLC12A3 (NCCT) |
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