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LIDLS1
MCID: LDD007
MIFTS: 57
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Liddle Syndrome 1 (LIDLS1)
Categories:
Blood diseases, Cardiovascular diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Liddle Syndrome 1:
Characteristics:Orphanet epidemiological data:58
liddle syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult; OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant
Miscellaneous:
variable severity within families phenotype ameliorated by low-salt diet and antagonists of the epithelial channel of the distal nephron no improvement with antagonists of the mineralocorticoid receptor sequelae of long-term hypertension, such as myocardial infarction, stroke, and renal failure, have been observed in affected individuals HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Cardiovascular diseases Nephrological diseases Blood diseases
ICD10:
33
Orphanet: 58
Rare circulatory system diseases
Rare renal diseases External Ids:
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MedlinePlus Genetics :
43
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.
MalaCards based summary : Liddle Syndrome 1, also known as liddle syndrome, is related to hypokalemia and hypertension, essential. An important gene associated with Liddle Syndrome 1 is SCNN1B (Sodium Channel Epithelial 1 Subunit Beta), and among its related pathways/superpathways are Aldosterone-regulated sodium reabsorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include Kidney, heart and brain, and related phenotypes are constipation and hypertension Disease Ontology : 12 A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel. GARD : 20 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 have low levels of potassium in the blood ( hypokalemia ) and metabolic alkalosis. Liddle syndrome is caused by mutations in either the SCNN1B or SCNN1G genes and is inherited in an autosomal dominant manner. Treatment may include a low sodium diet and potassium-sparing diuretics to reduce blood pressure and normalize potassium levels. Conventional anti-hypertensive therapies are not effective. OMIM® : 57 Liddle syndrome is an autosomal dominant disorder characterized by early-onset salt-sensitive hypertension, hypokalemia, metabolic alkalosis, and suppression of plasma renin activity and aldosterone secretion (summary by Yang et al., 2014). (177200) (Updated 05-Apr-2021) KEGG : 36 Liddle syndrome (LIDLS) is a rare form of autosomal dominant hypertension characterized by hypokalemic metabolic alkalosis, low-renin activity, and suppressed aldosterone secretion. The mutations in the epithelial Na+ channel gene cause failure of the protein endocytosis and accumulation of active channels at the cell surface, leading persistent absorption of Na+ and resulting in large blood volume and high blood pressure. UniProtKB/Swiss-Prot : 72 Liddle syndrome 1: A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. Wikipedia : 73 Liddle's syndrome, also called Liddle syndrome is a genetic disorder inherited in an autosomal dominant... more... |
Human phenotypes related to Liddle Syndrome 1:58 31 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:177200 (Updated 05-Apr-2021)GenomeRNAi Phenotypes related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:26 (show all 12)
MGI Mouse Phenotypes related to Liddle Syndrome 1:46
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Interventional clinical trials:
Cochrane evidence based reviews: liddle syndrome |
MalaCards organs/tissues related to Liddle Syndrome 1:40
Heart,
Kidney,
Brain
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Liddle Syndrome 1:
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Articles related to Liddle Syndrome 1:(show top 50) (show all 186)
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Genes related to Liddle Syndrome 1 (3 elite genes):(show all 38) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Liddle Syndrome 1:6 (show top 50) (show all 75)
UniProtKB/Swiss-Prot genetic disease variations for Liddle Syndrome 1:72
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Search
GEO
for disease gene expression data for Liddle Syndrome 1.
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Pathways related to Liddle Syndrome 1 according to KEGG:36
Pathways related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:(show all 11)
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Cellular components related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:(show all 29)
Molecular functions related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:
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