Allanson Pantzar McLeod syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
The severe intestinal developmental abnormality culminating in microcolon and early terminal ileum perforation/necrotizing enterocolitis is a novel finding not previously associated with RTD, which points to a role of the renin-angiotensin system in gut development.
|
30071301 |
2019 |
Allanson Pantzar McLeod syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Inherited renal tubular dysgenesis (RTD) is caused by mutations in the genes encoding the components of the renin-angiotensin system (RAS).
|
25414114 |
2015 |
Allanson Pantzar McLeod syndrome
|
0.790 |
GermlineCausalMutation
|
disease |
ORPHANET |
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
|
22095942 |
2012 |
Allanson Pantzar McLeod syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
|
22095942 |
2012 |
Allanson Pantzar McLeod syndrome
|
0.790 |
Biomarker
|
disease |
BEFREE |
This is the first characterization of the mechanisms underlying loss of renin function in RTD.
|
21036942 |
2011 |
Allanson Pantzar McLeod syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia.
|
21903317 |
2011 |
Allanson Pantzar McLeod syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Inherited renal tubular dysgenesis (RTD) is caused by mutations in the genes encoding components of the renin-angiotensin cascade: angiotensinogen, renin, angiotensin-converting enzyme (ACE), and angiotensin ΙΙ receptor type 1.
|
20607303 |
2010 |
Allanson Pantzar McLeod syndrome
|
0.790 |
Biomarker
|
disease |
BEFREE |
Renin-angiotensin system in kidney development: renal tubular dysgenesis.
|
19924102 |
2010 |
Allanson Pantzar McLeod syndrome
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
|
19664745 |
2009 |
Allanson Pantzar McLeod syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Genetic and functional analysis of the renin-angiotensin system contributes to the diagnosis of RTD.
|
17443344 |
2008 |
Allanson Pantzar McLeod syndrome
|
0.790 |
GermlineCausalMutation
|
disease |
ORPHANET |
We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1.
|
16116425 |
2005 |
Allanson Pantzar McLeod syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
|
16116425 |
2005 |
Allanson Pantzar McLeod syndrome
|
0.790 |
Biomarker
|
disease |
CTD_human |
We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1.
|
16116425 |
2005 |
Allanson Pantzar McLeod syndrome
|
0.790 |
GeneticVariation
|
disease |
UNIPROT |
We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1.
|
16116425 |
2005 |
Allanson Pantzar McLeod syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Allanson Pantzar McLeod syndrome
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Allanson Pantzar McLeod syndrome
|
0.790 |
Biomarker
|
disease |
HPO |
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 2
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Our findings provide insight into the functionality of renin-angiotensin system and stress the importance of renin analysis in families and individuals with early onset hyperuricemia, anemia, and progressive kidney failure.
|
19664745 |
2009 |
Hyperuricemic Nephropathy, Familial Juvenile 2
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our findings provide insight into the functionality of renin-angiotensin system and stress the importance of renin analysis in families and individuals with early onset hyperuricemia, anemia, and progressive kidney failure.
|
19664745 |
2009 |
Hyperuricemic Nephropathy, Familial Juvenile 2
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Our findings provide insight into the functionality of renin-angiotensin system and stress the importance of renin analysis in families and individuals with early onset hyperuricemia, anemia, and progressive kidney failure.
|
19664745 |
2009 |
Hyperuricemic Nephropathy, Familial Juvenile 2
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 2
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Hypertensive disease
|
0.600 |
Biomarker
|
group |
BEFREE |
The renin-angiotensin-aldosterone system: a crossroad from arterial hypertension to heart failure.
|
31512149 |
2020 |