|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation.
|
29318938 |
2018 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene.
|
30375316 |
2018 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TCF4 mutational analysis was performed in 117 patients with PTHS-like features.
|
18728071 |
2008 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
CTD_human |
TCF4 mutational analysis was performed in 117 patients with PTHS-like features.
|
18728071 |
2008 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TCF4 mutational analysis was performed in 117 patients with PTHS-like features.
|
18728071 |
2008 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
CLINGEN |
TCF4 mutational analysis was performed in 117 patients with PTHS-like features.
|
18728071 |
2008 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
TCF4 mutational analysis was performed in 117 patients with PTHS-like features.
|
18728071 |
2008 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
TCF4 mutational analysis was performed in 117 patients with PTHS-like features.
|
18728071 |
2008 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TCF4 deletions in Pitt-Hopkins Syndrome.
|
18781613 |
2008 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TCF4 mutations also cause Pitt-Hopkins Syndrome, an autosomal-dominant neurodevelopmental disorder associated with severe mental retardation.
|
20421335 |
2010 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
Transcription factor 4 (TCF4 also known as ITF2 or E2-2) is a basic helix-loop-helix (bHLH) protein associated with Pitt-Hopkins syndrome, intellectual disability, and schizophrenia (SCZ).
|
28951451 |
2017 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Although validation in additional patients is required, our findings suggest that the dysmorphic features and severe intellectual disability characteristic of PTHS are partially rescued by overexpression of those short TCF4 transcripts encoding a nuclear localization signal, a transcription activation domain, and the basic helix-loop-helix domain.
|
27179618 |
2016 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG1, SLC9A6 (Christianson syndrome), and TCF4 (Pitt-Hopkins syndrome).
|
24839169 |
2014 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As mutations in TCF4 cause Pitt-Hopkins syndrome (PTHS) characterized by severe intellectual disability, our data also potentially provide insights into the basis of neurological defects linked to TCF4 mutations.
|
31845732 |
2019 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Both null and missense mutations impaired the interaction of TCF4 with ASCL1 from the PHOX-RET pathway in transactivating an E box-containing reporter construct; therefore, hyperventilation and Hirschsprung disease in patients with Pitt-Hopkins syndrome might be explained by altered development of noradrenergic derivatives.
|
17436255 |
2007 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Both null and missense mutations impaired the interaction of TCF4 with ASCL1 from the PHOX-RET pathway in transactivating an E box-containing reporter construct; therefore, hyperventilation and Hirschsprung disease in patients with Pitt-Hopkins syndrome might be explained by altered development of noradrenergic derivatives.
|
17436255 |
2007 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Both null and missense mutations impaired the interaction of TCF4 with ASCL1 from the PHOX-RET pathway in transactivating an E box-containing reporter construct; therefore, hyperventilation and Hirschsprung disease in patients with Pitt-Hopkins syndrome might be explained by altered development of noradrenergic derivatives.
|
17436255 |
2007 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CGH-array allowed characterisation of a de novo 6.2 Mb 18q21.2q21.32 interstitial deletion involving TCF4, the recently identified gene responsible for Pitt-Hopkins syndrome (PHS).
|
18222743 |
2008 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.
|
29222403 |
2018 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
MGD |
Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.
|
29222403 |
2018 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
CLINGEN |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.
|
18627065 |
2008 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
|
28631899 |
2017 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |