Pitt-Hopkins syndrome

Summary
Definition
A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:0060488
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
6925 TCF4 transcription factor 4
6929 TCF3 transcription factor 3
6938 TCF12 transcription factor 12
26047 CNTNAP2 contactin associated protein 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
21406 Tcf12 transcription factor 12
21413 Tcf4 transcription factor 4
66797 Cntnap2 contactin associated protein-like 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
39387 Nrx-IV Neurexin IV
Displaying 1 entry
Gene ID Gene Symbol Description Source
178167 nlr-1 Neurexin like receptor 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024