Details of Disease | DrugMAP

General Information of Disease (ID: DISZFWB9)

Disease Name	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Synonyms	agenesis of corpus callosum, cardiac, ocular, and genital syndrome; AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
Disease Hierarchy	DISYKSRF: Genetic disease DISZFWB9: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Disease Identifiers	MONDO ID MONDO_0030065 UMLS CUI C5394523 OMIM ID 618929 MedGen ID 1718475

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
CDH2	TT1WS0T	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDH2	OTH0Y56P	Strong	Autosomal dominant	[1]
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References

1	De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005.