Details of Disease | DrugMAP

General Information of Disease (ID: DIS9T3AO)

Disease Name	Marbach-Schaaf neurodevelopmental syndrome
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DIS9T3AO: Marbach-Schaaf neurodevelopmental syndrome
Disease Identifiers	MONDO ID MONDO_0859214 UMLS CUI C5562050 OMIM ID 619680 MedGen ID 1794260

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
PRKAR1B	OT777OHS	Strong	Autosomal dominant	[1]
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References

1	Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genet Med. 2021 Aug;23(8):1465-1473. doi: 10.1038/s41436-021-01152-7. Epub 2021 Apr 8.