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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Renal Tubular Transport, Inborn Errors (D015499)
..Starting node ..Liddle Syndrome (D056929)
Child Nodes:
Sister Nodes:
..Acidosis, Renal Tubular (D000141) 11
..Azotemia, Familial (C566233)
..Bartter Syndrome (D001477) 8
..Dent Disease (D057973) 1
..Donnai-Barrow syndrome (C536390)
..Fanconi Syndrome (D005198) 3
..Gitelman Syndrome (D053579) 1
..Glycosuria, Renal (D006030) 1
..Hypomagnesemia 1, Intestinal (C566593)
..Hypomagnesemia 2, renal (C537152)
..Hypomagnesemia 4, Renal (C567127)
..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..Hypomagnesemia primary (C537153)
..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..Hypophosphatemia, Familial (D007015) 11
..Hypouricemia, Familial Renal, due to Tubular Hypersecretion (C564405)
..Hypouricemia, Hypercalcinuria, and Decreased Bone Density (C565475)
..Hypouricemia, Renal, 2 (C567426)
..Iminoglycinuria (C536285)
..Liddle Syndrome (D056929)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..Oculocerebrorenal Syndrome (D009800) 1
..Pseudohypoaldosteronism (D011546) 4
..Renal Aminoacidurias (D000608) 9
..Renal hypouricemia (C537757)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6428

Name:

Liddle Syndrome

Definition:

Familial pseudoaldosteronism characterized by autosomal dominant inheritance of hypertension with HYPOKALEMIA; ALKALOSIS; RENIN and ALDOSTERONE level decreases. It is caused by mutations in EPITHELIAL SODIUM CHANNELS beta and gamma subunits. Different mutations in the same EPITHELIAL SODIUM CHANNELS subunits can cause PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT.

Alternative IDs:

OMIM:177200

ParentIDs:

MESH:D015499

TreeNumbers:

C12.777.419.815.683 |C13.351.968.419.815.683 |C16.320.565.861.698 |C18.452.648.861.698

Synonyms:

Pseudoaldosteronism |Syndrome, Liddle

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: D056929
MeSH: D056929
OMIM: 177200;

Genes: SCNN1B; SCNN1G;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004319	Decreased circulating aldosterone level
3	HP:0003351	Decreased circulating renin level
4	HP:0000822	Hypertension
5	HP:0002900	Hypokalemia
6	HP:0001949	Hypokalemic alkalosis
7	HP:0000083	Renal insufficiency

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000336.2(SCNN1B):c.1696C>T (p.Arg566Ter)	6338	SCNN1B	Pathogenic	137852704	RCV000009378;	N	MedGen:C0221043,OMIM:177200,ORPHA:526,SNOMED CT:71275003	16	23391895	23391895	NM_000336.2:c.1696C>T	NP_000327.2:p.Arg566Ter	NC_000016.9:g.23391895C>T	OMIM Allelic Variant:600760.0001	C0221043 177200 Pseudoprimary hyperaldosteronism
NM_000336.2(SCNN1B):c.1847C>T (p.Pro616Leu)	6338	SCNN1B	Pathogenic	387906402	RCV000009379;	N	MedGen:C0221043,OMIM:177200,ORPHA:526,SNOMED CT:71275003	16	23392046	23392046	NM_000336.2:c.1847C>T	NP_000327.2:p.Pro616Leu	NC_000016.9:g.23392046C>G,NC_000016.9:g.23392046C>T	OMIM Allelic Variant:600760.0002	C0221043 177200 Pseudoprimary hyperaldosteronism
NM_000336.2(SCNN1B):c.1847C>G (p.Pro616Arg)	6338	SCNN1B	Pathogenic	387906402	RCV000009385;	N	MedGen:C0221043,OMIM:177200,ORPHA:526,SNOMED CT:71275003	16	23392046	23392046	NM_000336.2:c.1847C>G	NP_000327.2:p.Pro616Arg	NC_000016.9:g.23392046C>G,NC_000016.9:g.23392046C>T	OMIM Allelic Variant:600760.0008	C0221043 177200 Pseudoprimary hyperaldosteronism
NM_000336.2(SCNN1B):c.1849C>T (p.Pro617Ser)	6338	SCNN1B	Pathogenic	137852708	RCV000009384;	N	MedGen:C0221043,OMIM:177200,ORPHA:526,SNOMED CT:71275003	16	23392048	23392048	NM_000336.2:c.1849C>T	NP_000327.2:p.Pro617Ser	NC_000016.9:g.23392048C>T	OMIM Allelic Variant:600760.0007	C0221043 177200 Pseudoprimary hyperaldosteronism
NM_000336.2(SCNN1B):c.1858T>C (p.Tyr620His)	6338	SCNN1B	Pathogenic	137852707	RCV000009381;	N	MedGen:C0221043,OMIM:177200,ORPHA:526,SNOMED CT:71275003	16	23392057	23392057	NM_000336.2:c.1858T>C	NP_000327.2:p.Tyr620His	NC_000016.9:g.23392057T>C	OMIM Allelic Variant:600760.0004	C0221043 177200 Pseudoprimary hyperaldosteronism
NM_001039.3(SCNN1G):c.1718G>A (p.Trp573Ter)	6340	SCNN1G	Pathogenic	137853342	RCV000009372;	N	MedGen:C0221043,OMIM:177200,ORPHA:526,SNOMED CT:71275003	16	23226558	23226558	NM_001039.3:c.1718G>A	NP_001030.2:p.Trp573Ter	NC_000016.9:g.23226558G>A	OMIM Allelic Variant:600761.0001	C0221043 177200 Pseudoprimary hyperaldosteronism