Pseudohypoaldosteronism, Type I, Autosomal Recessive
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Pseudohypoaldosteronism type 1 and Liddle's syndrome mutations that affect the single-channel properties of the epithelial Na+ channel.
|
26537344 |
2015 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Clinical and molecular features of type 1 pseudohypoaldosteronism.
|
19571553 |
2009 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome.
|
17634077 |
2007 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G-->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1.
|
11231969 |
2001 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive
|
0.700 |
Biomarker
|
disease |
CTD_human |
A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families.
|
8640238 |
1996 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Liddle Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis identified a novel SCNN1G frameshift mutation, p.Arg586Valfs*598, in the proband with LS.
|
30977777 |
2019 |
Liddle Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To identify mutation in SCNN1B and SCNN1G genes in an adolescent with suspicious Liddle syndrome and his family members and to explore the screening target subjects of Liddle syndrome.
|
28718682 |
2018 |
Liddle Syndrome
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Pseudohypoaldosteronism type 1 and Liddle's syndrome mutations that affect the single-channel properties of the epithelial Na+ channel.
|
26537344 |
2015 |
Liddle Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
We screened the C-terminus of SCNN1B and SCNN1G in an adolescent with poorly controlled hypertension who was clinically diagnosed as having Liddle syndrome.
|
25378078 |
2015 |
Liddle Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The sequence of C-terminus of SCNN1B and SCNN1G were screened in the two families with likely Liddle syndrome.
|
24474657 |
2014 |
Liddle Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We screened an adolescent with severe hypertension who was clinically diagnosed with Liddle syndrome for mutations in the C-terminus of the SCNN1B and SCNN1G genes.
|
22809657 |
2013 |
Liddle Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Genetic diagnosis of Liddle's syndrome by mutation analysis of SCNN1B and SCNN1G in a Chinese family.
|
22613642 |
2012 |
Liddle Syndrome
|
0.600 |
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 |
Liddle Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to search for mutations of SCNN1B and SCNN1G in an Italian family with apparently dominant autosomal transmission of a clinical phenotype consistent with Liddle's syndrome.
|
18398334 |
2008 |
Liddle Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In accord, loss of function mutations in ENaC (PHA1) cause hypotension, whereas gain of function mutations (Liddle syndrome) result in hypertension.
|
18691017 |
2008 |
Liddle Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to determine whether mutations of SCNN1B or SCNN1G were present in a patient clinically suspected to have Liddle syndrome with no familial history of hypertension.
|
17634077 |
2007 |
Liddle Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The SCNN1G gene, located on human chromosome 16p12, encodes the gamma subunit of the amiloride-sensitive epithelial sodium channel, and mutations in SCNN1G can result in Liddle's syndrome or pseudohypoaldosteronism type I.
|
11463765 |
2001 |
Liddle Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
These results strongly suggest that PHA1 and Liddle's syndrome are allelic variants caused by mutations in genes encoding subunits of this sodium channel.
|
8824886 |
1996 |
Liddle Syndrome
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Pseudohypoaldosteronism, Type I
|
0.560 |
GeneticVariation
|
disease |
BEFREE |
Pseudohypoaldosteronism type 1 (PHA1) is a monogenic disease caused by mutations in the genes encoding the human mineralocorticoid receptor (MR) or the α (SCNN1A), β (SCNN1B) or γ (SCNN1G) subunit of the epithelial Na(+) channel (ENaC).
|
23416952 |
2013 |
Pseudohypoaldosteronism, Type I
|
0.560 |
GeneticVariation
|
disease |
BEFREE |
Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport.
|
21750640 |
2011 |
Pseudohypoaldosteronism, Type I
|
0.560 |
GeneticVariation
|
disease |
BEFREE |
The SCNN1G gene, located on human chromosome 16p12, encodes the gamma subunit of the amiloride-sensitive epithelial sodium channel, and mutations in SCNN1G can result in Liddle's syndrome or pseudohypoaldosteronism type I.
|
11463765 |
2001 |
Pseudohypoaldosteronism, Type I
|
0.560 |
GeneticVariation
|
disease |
BEFREE |
Syndromes of aldosterone resistance have been also characterized molecularly and mutations in the gene MLR, encoding mineralocorticoid receptor, and in the genes SNCC1A, SNCC1B, and SCNN1G, encoding subunits of the epithelial Na+ channel, have been found in dominant and recessive forms of pseudohypoaldosteronism type 1, respectively.
|
11045400 |
2000 |
Pseudohypoaldosteronism, Type I
|
0.560 |
Biomarker
|
disease |
MGD |
Role of gammaENaC subunit in lung liquid clearance and electrolyte balance in newborn mice. Insights into perinatal adaptation and pseudohypoaldosteronism.
|
9788978 |
1998 |