Details of Disease | DrugMAP

General Information of Disease (ID: DISEXLJF)

Disease Name	Cornelia de Lange syndrome 5
Synonyms	CDLS5; Cornelia DE Lange syndrome 5; Cornelia de Lange syndrome 5; Cornelia de Lange syndrome 5, X-linked dominant; Cornelia De Lange syndrome type 5
Disease Hierarchy	DIS5M94B: Non-syndromic limb reduction defect DISEQSXO: Cornelia de Lange syndrome DISEXLJF: Cornelia de Lange syndrome 5
Disease Identifiers	MONDO ID MONDO_0010471 UMLS CUI C3550903 OMIM ID 300882 MedGen ID 763817

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HDAC8	TTT6LFV	Strong	X-linked	[1]
HDAC8	TTT6LFV	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HDAC8	OT5L4RYX	Strong	X-linked	[1]
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References

1	Epigenetic control of skull morphogenesis by histone deacetylase 8. Genes Dev. 2009 Jul 15;23(14):1625-30. doi: 10.1101/gad.1809209.
2	Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30.