LIDLS1
MCID: LDD007
MIFTS: 59
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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:Inheritance:
Liddle Syndrome 1:
Autosomal dominant 57
Liddle Syndrome:
Autosomal dominant 58
OMIM®:57 (Updated 08-Dec-2022)
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 Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Cardiovascular diseases Nephrological diseases Blood diseases
ICD10:
32
Orphanet: 58
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MedlinePlus Genetics: 42 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 hypertension, essential and pseudohypoaldosteronism type 1. An important gene associated with Liddle Syndrome 1 is SCNN1B (Sodium Channel Epithelial 1 Subunit Beta), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include Kidney, heart and liver, and related phenotypes are constipation and hypertension GARD: 19 Liddle syndrome is a rare, inherited condition that is primarily characterized by severe high blood pressure (hypertension) that often develops at an early age. Affected people may also have low levels of potassium in the blood (hypokalemia) and metabolic alkalosis. Liddle syndrome is caused by genetic changes in either the SCNN1B or SCNN1G genes and is inherited in an autosomal dominant manner. 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 08-Dec-2022) UniProtKB/Swiss-Prot: 73 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. Disease Ontology: 11 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. Orphanet: 58 A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone. Wikipedia: 75 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 30 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:177200 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Liddle Syndrome 1:45
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Interventional clinical trials:
Cochrane evidence based reviews: liddle syndrome |
Organs/tissues related to Liddle Syndrome 1:
MalaCards :
Kidney,
Heart,
Liver,
Brain,
Skin,
Prostate,
Pituitary
![]() 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 590)
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ClinVar genetic disease variations for Liddle Syndrome 1:5 (show top 50) (show all 77)
UniProtKB/Swiss-Prot genetic disease variations for Liddle Syndrome 1:73
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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 GeneCards Suite gene sharing:
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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 34)
Molecular functions related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:
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