Details of Disease | DrugMAP

General Information of Disease (ID: DISGR8IJ)

Disease Name	SIN3A-related intellectual disability syndrome due to a point mutation
Disease Hierarchy	DISCAQTR: SIN3A-related intellectual disability syndrome DISGR8IJ: SIN3A-related intellectual disability syndrome due to a point mutation
Disease Identifiers	MONDO ID MONDO_0044700 UMLS CUI C4310804 OMIM ID 613406 MedGen ID 934771 Orphanet ID 500166 SNOMED CT ID 1187122000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SIN3A	OTM8OZWV	Supportive	Autosomal dominant	[1]
SIN3B	OTFB59FK	Supportive	Autosomal dominant	[2]
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References

1	Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nat Genet. 2016 Aug;48(8):877-87. doi: 10.1038/ng.3619. Epub 2016 Jul 11.
2	Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. Am J Hum Genet. 2021 May 6;108(5):929-941. doi: 10.1016/j.ajhg.2021.03.017. Epub 2021 Apr 2.