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Condition report · Cardiovascular

Monogenic Hypertension (Liddle, Gordon)

Inherited conditions that change how the kidneys and adrenal glands handle salt and the hormone aldosterone. They can cause high blood pressure from a young age, or salt loss, and several respond well to specific treatments.

A condition report looks for rare variants known to cause the conditions it covers.

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The 7 conditions we analyse

Liddle Syndrome

Autosomal dominant

An overactive kidney sodium channel, caused by changes in SCNN1B, SCNN1G or SCNN1A, that leads to early-onset high blood pressure, often with low potassium and low aldosterone.

What a diagnosis changes

Knowing about it points to treatment with amiloride or triamterene, which target the overactive channel directly.

Genes analysed

Also known as

LIDLS; pseudoaldosteronism; pseudohyperaldosteronism type 1

Includes 3 related subtypes ↓
  • Liddle syndrome 1
  • Liddle syndrome 2
  • Liddle syndrome 3
MONDO:0008323Orphanet 526MedGen 67439

Familial Hyperaldosteronism

Autosomal dominant

A group of conditions, including glucocorticoid-remediable aldosteronism (CYP11B1/CYP11B2) and forms caused by CLCN2, KCNJ5 or CACNA1H, in which the adrenal glands make too much aldosterone, causing high blood pressure.

What a diagnosis changes

Knowing about it guides treatment (dexamethasone for glucocorticoid-remediable aldosteronism, aldosterone-blocking drugs more generally) and supports screening of relatives.

Genes analysed

Also known as

FH; genetic hyperaldosteronism; hereditary hyperaldosteronism

Includes 5 related subtypes ↓
  • aldosterone-producing adenoma with seizures and neurological abnormalities
  • familial hyperaldosteronism type II
  • familial hyperaldosteronism type III
  • glucocorticoid-remediable aldosteronism
  • hyperaldosteronism, familial, type IV
MONDO:0016525Orphanet 235936Orphanet 371861MedGen 780028

Apparent Mineralocorticoid Excess

Autosomal recessive

A condition caused by changes in HSD11B2 in which cortisol acts like aldosterone in the kidney, causing high blood pressure and low potassium, usually from childhood.

What a diagnosis changes

Knowing about it supports treatment with aldosterone-blocking drugs and a low-salt diet.

Genes analysed

Also known as

11 Beta-hydroxysteroid dehydrogenase type 2 deficiency; AME; AME 1; APE; apparent mineralocorticoid excess syndrome; cortisol 11-beta-ketoreductase deficiency; syndrome of apparent mineralocorticoid Excess; Ulick syndrome

MONDO:0009025OMIM 218030Orphanet 320MedGen 90983

Pseudohypoaldosteronism Type 2 (Gordon Syndrome)

Autosomal dominant

A condition caused by changes in WNK1, WNK4, KLHL3 or CUL3 that causes high blood pressure with high potassium and acid build-up in the blood.

What a diagnosis changes

Knowing about it points to thiazide diuretics, which usually correct both the blood pressure and the potassium.

Genes analysed

Also known as

chloride shunt syndrome; familial hyperkalemic hypertension; Gordon hyperkalemia-hypertension syndrome; hyperkalemia-hypertension syndrome, Gordon type; hyperpotassemia and hypertension familial; hypertensive hyperkalemia; mineralocorticoid resistant hyperkalemia; PHA2; PHAII; pseudohypoaldosteronism, type 2; pseudohypoaldosteronism, type II; Spitzer-Weinstein syndrome

Includes 5 related subtypes ↓
  • pseudohypoaldosteronism type 2A
  • pseudohypoaldosteronism type 2B
  • pseudohypoaldosteronism type 2C
  • pseudohypoaldosteronism type 2D
  • pseudohypoaldosteronism type 2E
MONDO:0019162Orphanet 757MedGen 259599

Pseudohypoaldosteronism Type 1

A salt-wasting condition in which the body does not respond to aldosterone, caused by changes in NR3C2 (a milder kidney-limited form) or in the SCNN1 sodium-channel genes (a more severe, multi-organ form).

What a diagnosis changes

Knowing about it supports early salt supplementation and monitoring of potassium in infancy.

Genes analysed

Also known as

PHA type 1; PHA1B; pseudohypoaldosteronism type I autosomal recessive; pseudohypoaldosteronism, type I

Includes 4 related subtypes ↓
  • autosomal dominant pseudohypoaldosteronism type 1
  • pseudohypoaldosteronism, type IB1, autosomal recessive
  • pseudohypoaldosteronism, type IB2, autosomal recessive
  • pseudohypoaldosteronism, type IB3, autosomal recessive
MONDO:0019161Orphanet 756MedGen 82805

Aldosterone Synthase Deficiency

Autosomal recessive

An inherited defect in the last step of aldosterone production, usually caused by changes in CYP11B2, which leads to salt loss and high potassium in infancy.

What a diagnosis changes

Knowing about it supports treatment with fludrocortisone and salt replacement.

Genes analysed

Includes 5 related subtypes ↓
  • corticosterone methyloxidase type 1 deficiency
  • corticosterone methyloxidase type 2 deficiency
  • early-onset familial hypoaldosteronism
  • familial hyperreninemic hypoaldosteronism type 2
  • late-onset familial hypoaldosteronism
MONDO:0018541Orphanet 427MedGen 899592

Brachydactyly with Arterial Hypertension

Autosomal dominant

A condition caused by changes in PDE3A that combines short fingers and toes (brachydactyly type E) with severe high blood pressure that does not depend on salt.

What a diagnosis changes

Knowing about it explains early severe hypertension and supports blood pressure control to reduce the risk of stroke.

Genes analysed

Also known as

Bilginturan brachydactyly; Bilginturan syndrome; brachydactyly type E with short stature and hypertension; HTNB; hypertension and brachydactyly syndrome

MONDO:0007211OMIM 112410Orphanet 1276MedGen 349445

Limitations

  • Glucocorticoid-remediable aldosteronism is caused by a fused CYP11B1/CYP11B2 gene formed between two near-identical neighbouring genes. This rearrangement needs structural-variant analysis and may be missed.
  • One form of Gordon syndrome is caused by a large deletion within the WNK1 gene, which needs copy-number analysis and may be missed.

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