Details of Disease | DrugMAP

General Information of Disease (ID: DISRKSS8)

Disease Name	Pitt-Hopkins-like syndrome 2
Synonyms	PTHSL2; Pitt-Hopkins-like syndrome caused by mutation in NRXN1; NRXN1 Pitt-Hopkins-like syndrome; Pitt-Hopkins-like syndrome type 2; Pitt-Hopkins-like syndrome 2
Definition	Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.
Disease Hierarchy	DISD9JZD: Pitt-Hopkins-like syndrome DISYKSRF: Genetic disease DISRKSS8: Pitt-Hopkins-like syndrome 2
Disease Identifiers	MONDO ID MONDO_0013690 UMLS CUI C3280479 OMIM ID 614325 MedGen ID 482109

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NRXN1	OTJN1JQA	Strong	Autosomal recessive	[1]
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References

1	CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet. 2009 Nov;85(5):655-66. doi: 10.1016/j.ajhg.2009.10.004. Epub 2009 Nov 5.