Details of Disease | DrugMAP

General Information of Disease (ID: DIS26Q3S)

Disease Name	Heyn-Sproul-Jackson syndrome
Synonyms	Microcephaly, Short Stature, and Impaired Intellectual Development; HESJAS; HEYN-SPROUL-JACKSON SYNDROME
Disease Hierarchy	DISYKSRF: Genetic disease DIS26Q3S: Heyn-Sproul-Jackson syndrome
Disease Identifiers	MONDO ID MONDO_0032882 UMLS CUI C5231475 OMIM ID 618724 MedGen ID 1684743

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DNMT3A	TTJUALD	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNMT3A	OTEJP0GH	Strong	Autosomal dominant	[1]
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References

1	Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. Nat Genet. 2019 Jan;51(1):96-105. doi: 10.1038/s41588-018-0274-x. Epub 2018 Nov 26.