Disease: Liddle Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.540 GeneticVariation disease BEFREE The cause of Liddle syndrome is missense or frameshift mutations in SCNN1A, SCNN1B, or SCNN1G genes that encode epithelial sodium channel subunits. 31655555 2019
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.540 GermlineCausalMutation disease ORPHANET A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome. 28710092 2017
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.540 Biomarker disease CTD_human Renal tubular NEDD4-2 deficiency causes NCC-mediated salt-dependent hypertension. 23348737 2013
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.540 GeneticVariation disease BEFREE Mutations in the alpha-, beta- and gamma-ENaC subunit genes (SCNN1A, SCNN1B and SCNN1G) are associated with multi-system pseudohypoaldosteronism (PHA), and mutations in the PY motif of carboxy-terminal region of beta and gamma subunits are associated with Liddle syndrome of hereditary hypertension. 20064610 2010
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.540 Biomarker disease BEFREE In contrast, defects in the epithelial Na(+) channel (SCNN1) have been associated with phenotypes dominated by renal disease (systemic pseudohypoaldosteronism type I and Liddle syndrome). 16207733 2005
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.540 Biomarker disease BEFREE This review briefly discusses recent advances in understanding the implication of ENaC in Liddle's syndrome and in pseudohypoaldosteronism type I, both caused by mutations in the SCNN1 (ENaC) genes. 12530930 2003