TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
Disease: PITT-HOPKINS SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 GeneticVariation disease CLINVAR The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. 24077912 2014
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 Biomarker disease BEFREE Haploinsufficiency of the TCF4 (formatting follows IUPAC nomenclature: TCF4 protein/protein function, Tcf4 rodent gene cDNA mRNA, TCF4 human gene cDNA mRNA) gene causes the Pitt-Hopkins syndrome-a neurodevelopmental disease characterized by severe mental retardation. 24413739 2014
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
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
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 GeneticVariation disease BEFREE We suggest careful studies in parents of other patients with PTHS to determine the frequency of germline and somatic mosaicism for TCF4 mutations. 22335494 2013
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 Biomarker disease BEFREE Haploinsufficiency of TCF4 causes Pitt-Hopkins syndrome (PTHS): a severe form of mental retardation with phenotypic similarities to Angelman, Mowat-Wilson and Rett syndromes. 24058414 2013
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 Biomarker disease BEFREE In order to provide a molecular biological context for the loss of function of TCF4 in PTHS, the review will also present a brief overview of the basic biochemistry of TCF4-mediated regulation of cellular and neuronal gene expression. 23640545 2013
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 Biomarker disease BEFREE Quantitative real-time polymerase chain reaction is another method to identify TCF4 and to confirm Pitt-Hopkins syndrome diagnosis. 23248353 2013
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 GeneticVariation disease BEFREE The current report describes a new TCF4 deletion associated with a PTHS phenotype. 23528641 2013
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 GeneticVariation disease CLINVAR Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects. 22460224 2012
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 GeneticVariation disease CLINVAR In this study, we have summarized the current knowledge of TCF4 molecular pathology, reported all the mutations in the TCF4 database (http://www.LOVD.nl/TCF4), and present a novel and comprehensive diagnostic strategy for PTHS. 22045651 2012
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 GeneticVariation disease BEFREE However, a frameshift mutation in TCF4 was identified in a patient with a clinical diagnosis of "variant" RTT, in whom the clinical evolution later raised the possibility of Pitt-Hopkins syndrome. 22383159 2012
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 GeneticVariation disease CLINVAR These data demonstrate that PTHS-associated missense mutations can have multiple effects on the function of the protein, and suggest that TCF4 may modulate the expression of NRXN1 and CNTNAP2 thereby defining a regulatory network in PTHS. 22777675 2012
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 AlteredExpression disease BEFREE These data demonstrate that PTHS-associated missense mutations can have multiple effects on the function of the protein, and suggest that TCF4 may modulate the expression of NRXN1 and CNTNAP2 thereby defining a regulatory network in PTHS. 22777675 2012
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 Biomarker disease BEFREE We conclude that different PTHS-associated mutations impair the functions of TCF4 by diverse mechanisms and to a varying extent, possibly contributing to the phenotypic variability of PTHS patients. 22460224 2012
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 CausalMutation disease CLINVAR In this study, we have summarized the current knowledge of TCF4 molecular pathology, reported all the mutations in the TCF4 database (http://www.LOVD.nl/TCF4), and present a novel and comprehensive diagnostic strategy for PTHS. 22045651 2012
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 GeneticVariation disease UNIPROT In this study, we have summarized the current knowledge of TCF4 molecular pathology, reported all the mutations in the TCF4 database (http://www.LOVD.nl/TCF4), and present a novel and comprehensive diagnostic strategy for PTHS. 22045651 2012
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 Biomarker disease BEFREE In this study, we have summarized the current knowledge of TCF4 molecular pathology, reported all the mutations in the TCF4 database (http://www.LOVD.nl/TCF4), and present a novel and comprehensive diagnostic strategy for PTHS. 22045651 2012
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 GeneticVariation disease BEFREE This scoring system is also proposed for a clinically based diagnosis of PTHS in absence of a proven TCF4 mutation. 22678594 2012
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 GeneticVariation disease UNIPROT These data demonstrate that PTHS-associated missense mutations can have multiple effects on the function of the protein, and suggest that TCF4 may modulate the expression of NRXN1 and CNTNAP2 thereby defining a regulatory network in PTHS. 22777675 2012
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 GeneticVariation disease BEFREE In this study, we performed an in-depth analysis of the neurologic and ophthalmologic phenotype in a patient with Pitt-Hopkins syndrome (PTHS), a disorder characterized by severe mental and motor retardation, carrying a uniallelic TCF4 deletion, and studied a zebrafish model. 21544580 2011
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 GeneticVariation disease BEFREE We looked for TCF4 mutations in 63 patients with a suspected PTHS. 21671391 2011
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 GeneticVariation disease CLINVAR The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. 21671391 2011
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
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
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
PITT-HOPKINS SYNDROME 		1.000 GeneticVariation disease BEFREE The deletion of the transcription factor 4 gene suggested a possible contribution of the deletion to the patient's facial abnormalities, as observed in Pitt-Hopkins syndrome. 19813260 2010