Allanson Pantzar McLeod syndrome
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
We report three patients from two unrelated families with RTD due to pathogenic variants of the angiotensin-converting enzyme (ACE) gene, in whom RTD was associated with microcolon.
|
30071301 |
2019 |
Allanson Pantzar McLeod syndrome
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis.
|
30058238 |
2018 |
Allanson Pantzar McLeod syndrome
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Subsequently, two compound heterozygous deletions leading to frameshift mutations were identified in the angiotensin 1-converting enzyme gene ACE; exon 5:c.820_821delAG (p.Arg274Glyfs*117) and exon24: c.3521delG (p.Gly1174Alafs*12), consistent with a diagnosis of renal tubular dysgenesis.
|
25899979 |
2015 |
Allanson Pantzar McLeod syndrome
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
In this report, we present the effect of different ACE mutations associated with RTD on ACE intracellular trafficking, secretion and enzymatic activity.
|
24163131 |
2014 |
Allanson Pantzar McLeod syndrome
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
|
22095942 |
2012 |
Allanson Pantzar McLeod syndrome
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
|
22095942 |
2012 |
Allanson Pantzar McLeod syndrome
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the identification of a novel ACE mutation (Q1069R) in an RTD patient.
|
21695262 |
2011 |
Allanson Pantzar McLeod syndrome
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Patient with RTD in Lisbon, Portugal, maintained by peritoneal dialysis since birth, was found to have a homozygous substitution of Arg for Glu at position 1069 in the C-terminal domain of ACE (Q1069R) resulting in absence of plasma ACE activity; both parents and a brother who are heterozygous carriers of this mutation had exactly half-normal plasma ACE activity compared to healthy individuals.
|
20454656 |
2010 |
Allanson Pantzar McLeod syndrome
|
0.760 |
Biomarker
|
disease |
CTD_human |
Patient with RTD in Lisbon, Portugal, maintained by peritoneal dialysis since birth, was found to have a homozygous substitution of Arg for Glu at position 1069 in the C-terminal domain of ACE (Q1069R) resulting in absence of plasma ACE activity; both parents and a brother who are heterozygous carriers of this mutation had exactly half-normal plasma ACE activity compared to healthy individuals.
|
20454656 |
2010 |
Allanson Pantzar McLeod syndrome
|
0.760 |
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
|
0.760 |
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
|
0.760 |
Biomarker
|
disease |
HPO |
|
|
|
Allanson Pantzar McLeod syndrome
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Allanson Pantzar McLeod syndrome
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|