Details of Disease | DrugMAP

General Information of Disease (ID: DISUCHUA)

Disease Name	Cornelia de Lange syndrome 2
Synonyms	Cornelia De Lange syndrome, X-linked; CDLS2; Cornelia DE Lange syndrome 2; Cdls, X-linked; X-linked Cornelia De Lange syndrome; Cornelia De Lange syndrome type 2; Cornelia de Lange syndrome caused by mutation in SMC1A; SMC1A Cornelia de Lange syndrome; Cornelia de Lange syndrome 2; Cornelia de Lange syndrome 2, X-linked dominant
Definition	An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.
Disease Hierarchy	DIS5M94B: Non-syndromic limb reduction defect DISEQSXO: Cornelia de Lange syndrome DISUCHUA: Cornelia de Lange syndrome 2
Disease Identifiers	MONDO ID MONDO_0010370 MESH ID D003635 UMLS CUI C1802395 OMIM ID 300590 MedGen ID 315658 SNOMED CT ID 55016009

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]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NIPBL	OTF6OOLU	Strong	Biomarker	[1]
SMC1A	OT9ZMRK9	Definitive	X-linked	[2]
------------------------------------------------------------------------------------

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	Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A. Am J Med Genet A. 2010 Aug;152A(8):2127-9. doi: 10.1002/ajmg.a.33486.