Details of Disease | DrugMAP

General Information of Disease (ID: DISY0X0N)

Disease Name	Liddle syndrome
Synonyms	LIDLS; pseudohyperaldosteronism type 1; Liddle syndrome; pseudoaldosteronism; Liddle's syndrome
Definition	A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISBGF8S: Renal tubular transport disease DISNCQLA: Inherited kidney disorder DISY0X0N: Liddle syndrome
Disease Identifiers	MONDO ID MONDO_0008323 MESH ID D056929 UMLS CUI C0221043 OMIM ID 177200 MedGen ID 67439 Orphanet ID 526 SNOMED CT ID 707747007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYP11B1	TTIQUX7	Limited	Genetic Variation	[1]
REN	TTB2MXP	Limited	Altered Expression	[2]
NEDD4	TT1QU6G	moderate	Genetic Variation	[3]
CYP11B2	TT9MNE2	Strong	Genetic Variation	[1]
NR3C2	TT26PHO	Strong	Genetic Variation	[4]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASIC5	OT1KWTC1	Limited	Genetic Variation	[5]
SCNN1A	OTE2KVZV	Supportive	Autosomal dominant	[6]
SCNN1B	OT61QQTL	Supportive	Autosomal dominant	[7]
SCNN1G	OTSJYQVQ	Definitive	Autosomal dominant	[8]
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References

1	Genetic determination of human essential hypertension.Tohoku J Exp Med. 2000 Sep;192(1):19-33. doi: 10.1620/tjem.192.19.
2	Identification of glycyrrhizin metabolites in humans and of a potential biomarker of liquorice-induced pseudoaldosteronism: a multi-centre cross-sectional study.Arch Toxicol. 2019 Nov;93(11):3111-3119. doi: 10.1007/s00204-019-02588-2. Epub 2019 Oct 11.
3	The epithelial Na+ channel: cell surface insertion and retrieval in Na+ homeostasis and hypertension.Endocr Rev. 2002 Apr;23(2):258-75. doi: 10.1210/edrv.23.2.0458.
4	Genetics of the mineralocorticoid system in primary hypertension.Curr Hypertens Rep. 2002 Feb;4(1):18-24. doi: 10.1007/s11906-002-0048-8.
5	Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach.Proc Natl Acad Sci U S A. 1996 Dec 24;93(26):15370-5. doi: 10.1073/pnas.93.26.15370.
6	A Missense Mutation in the Extracellular Domain of ENaC Causes Liddle Syndrome. J Am Soc Nephrol. 2017 Nov;28(11):3291-3299. doi: 10.1681/ASN.2016111163. Epub 2017 Jul 14.
7	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
8	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.