Details of Disease | DrugMAP

General Information of Disease (ID: DIS1UHD6)

Disease Name	Cornelia de Lange syndrome 1
Synonyms	CDLS1; Cdl; Cornelia DE Lange syndrome 1; De Lange syndrome; typus Degenerativus Amstelodamensis; Brachmann-De Lange syndrome; NIPBL Cornelia de Lange syndrome; Cornelia De Lange syndrome type 1; Cornelia de Lange syndrome 1; Cornelia de Lange syndrome caused by mutation in NIPBL
Definition	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.
Disease Hierarchy	DIS5M94B: Non-syndromic limb reduction defect DISEQSXO: Cornelia de Lange syndrome DIS1UHD6: Cornelia de Lange syndrome 1
Disease Identifiers	MONDO ID MONDO_0007387 MESH ID D003635 UMLS CUI C4551851 OMIM ID 122470 MedGen ID 1645760

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 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NIPBL	OTF6OOLU	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	NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet. 2004 Jun;36(6):636-41. doi: 10.1038/ng1363. Epub 2004 May 16.