|
Ogden syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Recently, NAA10 germline variants were found in patients with the X-linked lethal Ogden syndrome, and in other familial or de novo cases with variable degrees of developmental delay, intellectual disability (ID) and cardiac anomalies.
|
31174490 |
2019 |
|
Ogden syndrome
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
Recently, NAA10 germline variants were found in patients with the X-linked lethal Ogden syndrome, and in other familial or de novo cases with variable degrees of developmental delay, intellectual disability (ID) and cardiac anomalies.
|
31174490 |
2019 |
|
Ogden syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10, originally described as Ogden syndrome, to the milder NAA10-related intellectual disability found with different variants in both males and females.
|
30054457 |
2018 |
|
Ogden syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
In recent years, NAA10 variants have been found in patients with an X-linked developmental disorder called Ogden syndrome in its most severe form and, in other familial or de novo cases, with variable degrees of syndromic intellectual disability (ID) affecting both sexes.
|
29558889 |
2018 |
|
Ogden syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Our study thus links Naa10p mutation-associated Ogden syndrome to defective DNA methylation and genomic imprinting.
|
28943313 |
2017 |
|
Ogden syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome.
|
28967461 |
2017 |
|
Ogden syndrome
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Lessons learned from additional research analyses of unsolved clinical exome cases.
|
28327206 |
2017 |
|
Ogden syndrome
|
0.780 |
Biomarker
|
disease |
BEFREE |
The core phenotype of X-linked NAA10-related N-terminal-acetyltransferase deficiency in both males and females includes developmental delay, severe intellectual disability, postnatal growth failure with severe microcephaly, and skeletal or cardiac anomalies.
|
27094817 |
2016 |
|
Ogden syndrome
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects.
|
25489052 |
2015 |
|
Ogden syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Our findings expand the clinical spectrum of NAA10 and suggest that the proposed correlation between mutant Naa10 enzyme activity and phenotype severity is more complex than anticipated; the p.Tyr43Ser mutant enzyme has less catalytic activity than the p.Ser37Pro mutant associated with lethal Ogden syndrome but results in a milder phenotype.
|
26522270 |
2015 |
|
Ogden syndrome
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
Our findings expand the clinical spectrum of NAA10 and suggest that the proposed correlation between mutant Naa10 enzyme activity and phenotype severity is more complex than anticipated; the p.Tyr43Ser mutant enzyme has less catalytic activity than the p.Ser37Pro mutant associated with lethal Ogden syndrome but results in a milder phenotype.
|
26522270 |
2015 |
|
Ogden syndrome
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
NAA10 has been previously shown to be mutated in patients with Ogden syndrome, which is clinically distinct from LMS.
|
24431331 |
2014 |
|
Ogden syndrome
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
NAA10 has been previously shown to be mutated in patients with Ogden syndrome, which is clinically distinct from LMS.
|
24431331 |
2014 |
|
Ogden syndrome
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
|
21700266 |
2011 |
|
Ogden syndrome
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
|
21700266 |
2011 |
|
Ogden syndrome
|
0.780 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Ogden syndrome
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Microphthalmia, syndromic 1
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
One of the individuals is an 11-year-old boy with a frameshift variant in exon 7 of NAA10, who presents most notably with microphthalmia, which confirms a prior finding with a single family with Lenz microphthalmia syndrome.
|
31127942 |
2019 |
|
Microphthalmia, syndromic 1
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
|
24431331 |
2014 |
|
Microphthalmia, syndromic 1
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
|
24431331 |
2014 |
|
Microphthalmia, syndromic 1
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
|
24431331 |
2014 |
|
Microphthalmia, syndromic 1
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
|
24431331 |
2014 |
|
Microphthalmia, syndromic 1
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Microphthalmia, syndromic 1
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Adenocarcinoma of lung (disorder)
|
0.310 |
Biomarker
|
disease |
CTD_human |
c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma.
|
27602772 |
2016 |