Pitt-Hopkins Syndrome Overview
Learn About Pitt-Hopkins Syndrome
Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.
Mutations in the TCF4 gene cause Pitt-Hopkins syndrome. This gene provides instructions for making a protein that attaches (binds) to other proteins and then binds to specific regions of DNA to help control the activity of many other genes. On the basis of its DNA binding and gene controlling activities, the TCF4 protein is known as a transcription factor. The TCF4 protein plays a role in the maturation of cells to carry out specific functions (cell differentiation) and the self-destruction of cells (apoptosis).
Pitt-Hopkins syndrome is thought to be a very rare condition. Approximately 500 affected individuals have been reported worldwide.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Tonis Timmusk practices in Tallinn, Estonia. Timmusk is rated as an Elite expert by MediFind in the treatment of Pitt-Hopkins Syndrome. Their top areas of expertise are Pitt-Hopkins Syndrome, Hyperventilation, Schizophrenia, and Huntington Disease.
Giuseppe Marangi practices in Rome, Italy. Mr. Marangi is rated as an Elite expert by MediFind in the treatment of Pitt-Hopkins Syndrome. His top areas of expertise are Pitt-Hopkins Syndrome, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, and Microcephaly.
Marcella Zollino practices in Rome, Italy. Ms. Zollino is rated as an Elite expert by MediFind in the treatment of Pitt-Hopkins Syndrome. Her top areas of expertise are Pitt-Hopkins Syndrome, Wolf-Hirschhorn Syndrome, Achalasia Microcephaly Syndrome, and Microcephaly.
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Summary: The investigators propose to investigate Microbiota Transfer Therapy (MTT) for treating patients with Pitt-Hopkins Syndrome (PTHS) and gastrointestinal problems (constipation, bloating, abdominal pain). MTT involves a combination of 10 days of oral vancomycin (an antibiotic to kill pathogenic bacteria), followed by 1 day of bowel cleanse using magnesium citrate, followed by 4 days of high dose MTP...
Published Date: February 01, 2015
Published By: National Institutes of Health