Details of Disease | DrugMAP

General Information of Disease (ID: DIS69WC6)

Disease Name	Cornelia de Lange syndrome 3
Synonyms	CDLS3; Cornelia DE Lange syndrome 3; Cornelia de Lange syndrome caused by mutation in Smc3; Smc3 Cornelia de Lange syndrome; Cornelia de Lange syndrome caused by mutation in SMC3; SMC3 Cornelia de Lange syndrome; Cornelia de Lange syndrome 3; Cornelia De Lange syndrome type 3
Definition	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.
Disease Hierarchy	DIS5M94B: Non-syndromic limb reduction defect DISEQSXO: Cornelia de Lange syndrome DIS69WC6: Cornelia de Lange syndrome 3
Disease Identifiers	MONDO ID MONDO_0012555 MESH ID D003635 UMLS CUI C1853099 OMIM ID 610759 MedGen ID 339902

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
BRD4	TTSRAOU	Strong	Biomarker	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NIPBL	OTF6OOLU	Strong	Biomarker	[1]
SMC3	OTWGFRHD	Definitive	Autosomal dominant	[2]
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References

1	BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. Nat Genet. 2018 Mar;50(3):329-332. doi: 10.1038/s41588-018-0042-y. Epub 2018 Jan 29.
2	Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 2007 Mar;80(3):485-94. doi: 10.1086/511888. Epub 2007 Jan 17.