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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Liddle syndrome


Other Names for this Disease

  • Liddle's syndrome
  • Pseudoaldosteronism
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Symptoms

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What are the signs and symptoms of Liddle syndrome?

Liddle syndrome is chiefly characterized by severe, early-onset hypertension (high blood pressure). In most affected individuals the condition becomes apparent at a young age, but some are not diagnosed until well into adulthood.[1] Individuals typically present with hypertension, hypokalemia (low blood potassium) and metabolic alkalosis.[1] Symptoms of hypokalemia may include weakness, fatigue, muscle pain (myalgia), constipation or heart palpitations.[2] Some affected individuals are not hypokalemic at the time of presentation.[1]
Last updated: 9/21/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Liddle syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Arrhythmia 90%
Constipation 90%
Hypertension 90%
Hypokalemia 90%
Cerebral ischemia 50%
Muscle weakness 50%
Nephropathy 50%
Renal insufficiency 50%
Autosomal dominant inheritance -
Decreased circulating renin level -
Hypokalemic alkalosis -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. William F. Young, Jr. Genetic disorders of the collecting tubule sodium channel: Liddle's syndrome and pseudohypoaldosteronism type 1. UpToDate. Waltham, MA: UpToDate; 2012;
  2. Rosa Vargas-Poussou. Liddle syndrome. Orphanet. August 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=526. Accessed 9/21/2012.


Other Names for this Disease
  • Liddle's syndrome
  • Pseudoaldosteronism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.