Details of Disease | DrugMAP

General Information of Disease (ID: DISXRJCA)

Disease Name	Cornelia de Lange syndrome 4
Synonyms	Cornelia DE Lange syndrome 4; CDLS4; Cornelia de Lange syndrome caused by mutation in RAD21; RAD21 Cornelia de Lange syndrome; Cornelia de Lange syndrome 4; Cornelia De Lange syndrome type 4
Definition	Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.
Disease Hierarchy	DIS5M94B: Non-syndromic limb reduction defect DISEQSXO: Cornelia de Lange syndrome DISXRJCA: Cornelia de Lange syndrome 4
Disease Identifiers	MONDO ID MONDO_0013864 UMLS CUI C3553517 OMIM ID 614701 MedGen ID 766431

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BCL9	OTRBIPR4	Strong	Genetic Variation	[1]
LGSN	OTQG5Z82	Strong	Genetic Variation	[1]
RAD21	OTQS84ZF	Definitive	Autosomal dominant	[2]
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References

1	Prenatal diagnosis and array comparative genomic hybridization characterization of interstitial deletions of 8q23.3-q24.11 and 8q24.13 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and haploinsufficiency of TRPS1, RAD21 and EXT1.Taiwan J Obstet Gynecol. 2015 Oct;54(5):592-6. doi: 10.1016/j.tjog.2015.08.013.
2	A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. Eur J Med Genet. 2019 Jun;62(6):103526. doi: 10.1016/j.ejmg.2018.08.007. Epub 2018 Aug 17.