Details of Disease | DrugMAP

General Information of Disease (ID: DISFOWVC)

Disease Name	Ventriculomegaly-cystic kidney disease
Synonyms	ventriculomegaly with cystic kidney disease; VMCKD; congenital nephrosis-cerebral ventriculomegaly syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISFOWVC: Ventriculomegaly-cystic kidney disease
Disease Identifiers	MONDO ID MONDO_0009063 MESH ID C565657 UMLS CUI C1857423 OMIM ID 219730 MedGen ID 346584 Orphanet ID 443988 SNOMED CT ID 1216942009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRB2	OTG0L2CE	Definitive	Autosomal recessive	[1]
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References

1	CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. Am J Hum Genet. 2015 Jan 8;96(1):162-9. doi: 10.1016/j.ajhg.2014.11.013. Epub 2014 Dec 31.