Pitt-Hopkins syndrome

Common Name(s)

Pitt-Hopkins syndrome

Pitt-Hopkins syndrome is a genetic condition characterized by intellectual disability, a wide mouth, other distinctive facial features, and abnormal breathing (i.e., periodic hyperventilation followed by apnea). It is believed that the syndrome is associated with mutations in the TCF4 transcription factor gene. The majority of cases reported thus far are believed to be sporadic; therefore, most of the individuals who have Pitt-Hopkins syndrome do not have any family members with the condition. Treatment is symptomatic.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pitt-Hopkins syndrome" for support, advocacy or research.

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Pitt Hopkins Research Foundation

The Pitt Hopkins Research Foundation (PHRF) is dedicated to finding treatments for this gene-based, developmental disorder. PHRF is additionally dedicated to providing support to our families of children with Pitt Hopkins Syndrome and Pitt Hopkins-Like Syndrome.

http://www.pitthopkins.org

Last Updated: 29 Nov 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pitt-Hopkins syndrome" for support, advocacy or research.

Logo
Pitt Hopkins Research Foundation

The Pitt Hopkins Research Foundation (PHRF) is dedicated to finding treatments for this gene-based, developmental disorder. PHRF is additionally dedicated to providing support to our families of children with Pitt Hopkins Syndrome and Pitt Hopkins-Like Syndrome.

http://www.pitthopkins.org

Last Updated: 29 Nov 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pitt-Hopkins syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
 

Author(s): Mari Sepp, Priit Pruunsild, T├Ánis Timmusk

Journal: Hum. Mol. Genet.. 2012 Jul;21(13):2873-88.

 

Transcription factor TCF4 (alias ITF2, SEF2 or E2-2) is a broadly expressed basic helix-loop-helix (bHLH) protein that functions as a homo- or heterodimer. Missense, nonsense, frame-shift and splice-site mutations as well as translocations and large deletions encompassing TCF4 gene ...

Last Updated: 13 Jun 2012

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TCF4, schizophrenia, and Pitt-Hopkins Syndrome.
 

Author(s): Derek J Blake, Marc Forrest, Ria M Chapman, Caroline L Tinsley, Michael C O'Donovan, Michael J Owen

Journal: Schizophr Bull. 2010 May;36(3):443-7.

 

Genome-wide association studies allied with the identification of rare copy number variants have provided important insights into the genetic risk factors for schizophrenia. Recently, a meta-analysis of several genome-wide association studies found, in addition to several other markers, ...

Last Updated: 2 Jun 2010

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Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.
 

Author(s): Grazia Taddeucci, Alice Bonuccelli, Ilaria Mantellassi, Alessandro Orsini, Enrico Tarantino

Journal:

 

We will discuss the clinical and genetic diagnosis of a child with severe psychomotor delay, who at 3 years of age presented with paroxysms of hyperpnea-apnea and seizures unrelated to breathing anomalies.

Last Updated: 8 Mar 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pitt-Hopkins syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.
 

Author(s): J David Sweatt

Journal:

 

TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt-Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual disability. The TCF4 gene is also a risk ...

Last Updated: 3 May 2013

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.