{"Name":"Liddle syndrome","DiseaseID__c":"GARD:0007381","id":7381,"encodedName":"liddle-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Liddle syndrome","Xref_IDs__c":"707747007; C0221043; C84827; D056929; DOID:0050477; MEDGEN:67439; MONDO:0008323; OMIMPS:177200; ORPHA:526","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0008323","Disease_Description__c":"A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.","GARD_Name__c":"Liddle syndrome","GARD_Synonym__c":"liddle's syndrome; pseudoaldosteronism; pseudohyperaldosteronism type 1; pseudoprimary hyperaldosteronism","Curated_Disease_Description_Source__c":"GARD:0007381","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:526","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008323","ORPHANET_ID__c":"ORPHA:526","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de liddle","Spanish_Description_Source__c":"ORPHA:526","Spanish_Description__c":"Es una forma genética y poco frecuente de hipertensión de baja renina caracterizada por hipertensión asociada a una disminución de los niveles plasmáticos de potasio y aldosterona.","Spanish_Disease_Name__c":"síndrome de liddle","Spanish_GARD_Synonym__c":"pseudoaldosteronismo","Category_Linearization__c":"ORPHA:93626","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"GARD:0007381","GARD_Synonym__c":"liddle's syndrome; pseudoaldosteronism; pseudohyperaldosteronism type 1; pseudoprimary hyperaldosteronism","Name":"Liddle syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:526"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:526"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:526"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:526"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0221043"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007381","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=67439","Source__c":"C0221043","Xref__c":"MEDGEN:67439"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=707747007","Source__c":"C0221043; MONDO:0008323","Xref__c":"707747007"},{"URL__c":"https://www.orpha.net/en/disease/detail/526","Source__c":"C0221043; MONDO:0008323; ORPHA:526","Xref__c":"ORPHA:526"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS177200","Source__c":"MONDO:0008323","Xref__c":"OMIMPS:177200"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0221043","Source__c":"C0221043","Xref__c":"C0221043"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84827","Source__c":"C0221043; MONDO:0008323","Xref__c":"C84827"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C056929","Source__c":"C0221043; MONDO:0008323","Xref__c":"D056929"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050477","Source__c":"MONDO:0008323","Xref__c":"DOID:0050477"},{"URL__c":"https://medlineplus.gov/genetics/condition/liddle-syndrome","Source__c":"GARD:0007381","Xref__c":"https://medlineplus.gov/genetics/condition/liddle-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008323","Source__c":"GARD:0007381","Xref__c":"MONDO:0008323"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SCNN1A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scnn1a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SCNN1B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scnn1b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SCNN1G","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scnn1g","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:526","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002637","HPO_Synonym__c":"Brain ischemia; Cerebrovascular ischemia; Disruption of blood oxygen supply to brain","HPO_Name__c":"Cerebral ischemia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:526","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:526","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:526","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:526","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:526","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:526","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased potassium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002900","HPO_Synonym__c":"Low blood potassium levels","HPO_Name__c":"Hypokalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:526","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:526","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A nonspecific term referring to disease or damage of the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000112","HPO_Name__c":"Nephropathy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology"],"Specialist":["Genetics","Nephrology","Pediatrics"],"Account":["Nephrology"]},"synonyms":["liddle's syndrome"," pseudoaldosteronism"," pseudohyperaldosteronism type 1"," pseudoprimary hyperaldosteronism"]}