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Related terms:
renal tubule acidosis
Bartter disease
Fanconi syndrome
oculocerebrorenal syndrome
pseudohypoaldosteronism
Gitelman syndrome
Dent disease
Disease or Syndrome
Liddle syndrome
Subclass of:
Renal Tubular Transport, Inborn Errors
Definitions related to liddle syndrome:
  • An autosomal dominant inherited syndrome caused by dysregulation of the amiloride-sensitive sodium channel. It is characterized by early onset hypertension, hypokalemia, metabolic alkalosis, low plasma renin and hypoaldosteronism.
    NCI Thesaurus
    U.S. National Cancer Institute, 2021
  • An autosomal dominant syndrome caused by dysregulation of the amiloride-sensitive sodium channel, which is characterized by early onset hypertension, hypokalemia, metabolic alkalosis, low plasma renin, and hypoaldosteronism.
    NICHD Pediatric Terminology
    U.S. National Cancer Institute, 2021
  • Familial pseudoaldosteronism characterized by autosomal dominant inheritance of hypertension with HYPOKALEMIA; ALKALOSIS; RENIN and ALDOSTERONE level decreases. It is caused by mutations in EPITHELIAL SODIUM CHANNELS beta and gamma subunits. Different mutations in the same EPITHELIAL SODIUM CHANNELS subunits can cause PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT.
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2021
  • Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal. In addition to hypertension, affected individuals can have low levels of potassium in the blood (hypokalemia). Signs and symptoms of hypokalemia include muscle weakness or pain, fatigue, constipation, or heart palpitations. The shortage of potassium can also raise the pH of the blood, a condition known as metabolic alkalosis.
    MedlinePlus Genetics
    U.S. National Library of Medicine, 2021
  • Liddle syndrome is a rare hereditary disorder involving increased activity of the epithelial sodium channel (ENaC), which causes the kidneys to excrete potassium but retain too much sodium and water, leading to hypertension. Symptoms are of hypertension, fluid retention, and metabolic alkalosis. Diagnosis is through measurement of...
    Merck Manuals
    Merck & Co., Inc., 2020
  • Liddle syndrome is a rare, inherited condition that is primarily characterized by severe high blood pressure (hypertension) that often develops at an early age. Although the condition may not be associated with signs and symptoms initially, untreated hypertension can eventually lead to heart disease or stroke. Affected people may also...
    NIH Genetic and Rare Diseases
    National Center for Advancing Translational Sciences
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This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.

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