Details of Disease | DrugMAP

General Information of Disease (ID: DISQSY1T)

Disease Name	SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
Disease Hierarchy	DISH7SDF: Syndromic intellectual disability DIS3ENYF: SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth DISQSY1T: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
Disease Identifiers	MONDO ID MONDO_0035706 UMLS CUI C5681587 MedGen ID 1843293 Orphanet ID 597743

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	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
SETD2	OTQW463T	Strong	Autosomal dominant	[1]
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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.