Details of Disease | DrugMAP

General Information of Disease (ID: DISM1JID)

Disease Name	Pitt-Hopkins syndrome
Synonyms	intellectual disability, Syndromal, with intermittent hyperventilation; encephalopathy, Severe epileptic, with autonomic dysfunction; intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea; Pitt Hopkins syndrome; PTHS; mental retardation, Syndromal, with intermittent hyperventilation; Pitt-Hopkins syndrome
Definition	Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISM1JID: Pitt-Hopkins syndrome
Disease Identifiers	MONDO ID MONDO_0012589 MESH ID C537403 UMLS CUI C1970431 OMIM ID 610954 MedGen ID 370910 Orphanet ID 2896 SNOMED CT ID 702344008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NEUROD1	OTZQ7QJ2	Limited	Genetic Variation	[1]
CNTNAP2	OT48T2ZP	moderate	Altered Expression	[2]
NRXN1	OTJN1JQA	Definitive	Biomarker	[3]
TCF4	OTB9ASTK	Definitive	Autosomal dominant	[4]
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References

1	Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.Eur J Med Genet. 2016 Jun;59(6-7):310-4. doi: 10.1016/j.ejmg.2016.04.003. Epub 2016 Apr 28.
2	Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.Hum Mutat. 2012 Dec;33(12):1676-86. doi: 10.1002/humu.22160. Epub 2012 Jul 27.
3	Neurexins and neuropsychiatric disorders.Neurosci Res. 2018 Feb;127:53-60. doi: 10.1016/j.neures.2017.10.012. Epub 2017 Dec 6.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.