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PHS
MCID: PTT014
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Pitt-hopkins Syndrome (PHS) malady |
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Sources: 20Genetics Home Reference, 39NIH Rare Diseases, 43OMIM, 18GeneReviews, 29MalaCards See all sources Fully expand this MalaCard Export this MalaCard |
NIH Rare Diseases:39 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.
MalaCards: Pitt-hopkins Syndrome, also known as pitt hopkins syndrome, is related to schizophrenia and familial adenomatous polyposis. An important gene associated with Pitt-hopkins Syndrome is TCF4 (transcription factor 4), and among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Human Embryonic Stem Cell Pluripotency. The drugs buspirone hydrochloride and buspirone and the compound mononucleotide have been mentioned in the context of this disorder. Related mouse phenotype behavior/neurological. Genetics Home Reference:20 Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay which range from moderate to severe, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. OMIM: GeneReviews summary for pitt-hopkins |
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Sources: 18GeneReviews, 39NIH Rare Diseases, 19GeneTests, 20Genetics Home Reference, 43OMIM, 45Orphanet, 56UMLS, 32MESH via Orphanet, 57UMLS via Orphanet See all sources |
Aliases & Descriptions:
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Sources: 43OMIM See all sources |
Clinical features from OMIM: |
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Sources: 5CenterWatch, 38NIH Clinical Center, 6ClinicalTrials, 56UMLS, 37NDF-RT See all sources |
Approved drugs:Search CenterWatch for pitt-hopkins syndrome Drug clinical trials:Search ClinicalTrials for pitt-hopkins syndrome Search NIH Clinical Center for pitt-hopkins syndrome Search CenterWatch for pitt-hopkins syndrome Inferred drug relations via UMLS56/NDF-RT37: |
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Sources: 19GeneTests See all sources |
Genetic tests related to pitt-hopkins syndrome:
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Sources: 33MGI, 26inGenious Targeting Laboratory See all sources |
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Sources: 47PubMed See all sources |
Articles related to pitt-hopkins syndrome:(show all 13)
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Sources: 16GeneCards, 42Novus Biologicals, 26inGenious Targeting Laboratory See all sources |
Genes related to pitt-hopkins syndrome:
Products for genes related to pitt-hopkins syndrome disease:
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Sources: 58UniProtKB/Swiss-Prot See all sources |
Genetic disease variations for pitt-hopkins syndrome:58 (show all 13)
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Sources: 1BioGPS See all sources |
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Sources: 34NCBI BioSystems Database, 48QIAGEN, 27KEGG See all sources |
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Sources: 41Novoseek See all sources |
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Sources: 15Gene Ontology See all sources |
Biological processes related to pitt-hopkins syndrome according to GeneCards/GeneDecks:
Molecular functions related to pitt-hopkins syndrome according to GeneCards/GeneDecks:
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