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Liddle syndrome

Disease Summary
Associated Targets (4)
Tclin

4


GARD Rare
Mondo Description Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.
Uniprot Description An autosomal dominant disorder characterized by hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0008323:  Liddle syndrome
GARD:0007381: 
MESH:D056929: 
NCIT:C84827: 
OMIMPS:177200: 
Orphanet:526: 
SCTID:707747007: 
UMLS:C0221043: