Pitt-Hopkins Syndrome (PTHS)

Alias:
Pths
Mental Retardation, Syndromal, with Intermittent Hyperventilation
Encephalopathy, Severe Epileptic, with Autonomic Dysfunction
Encephalopathy Severe Epileptic with Autonomic Dysfunction
Phs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pitt-Hopkins Syndrome, also known as pths, is related to pitt-hopkins-like syndrome 1 and pitt-hopkins-like syndrome 2, and has symptoms including constipation, seizures and nasal flaring. An important gene associated with Pitt-Hopkins Syndrome is TCF4 (Transcription Factor 4), and among its related pathways/superpathways are MECP2 and associated Rett syndrome and Myogenesis. The drugs Magnesium citrate and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include testes and brain, and related phenotypes are intellectual disability and failure to thrive
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
1-9/1000000
43
478
84

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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