Details of Disease | DrugMAP

General Information of Disease (ID: DIS3ENYF)

Disease Name	SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
Synonyms	SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
Definition	A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features.
Disease Hierarchy	DISD715V: Hereditary neurological disease DISMBNXP: Intellectual disability DIS3ENYF: SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth

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
SETD2	TTPC3H4	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SETD2	OTQW463T	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	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.