Details of Disease | DrugMAP

General Information of Disease (ID: DISET7WL)

Disease Name	Hydrocephalus, nonsyndromic, autosomal recessive 2
Synonyms	HYC2; hydrocephalus, nonsyndromic, autosomal recessive 2; hydrocephalus, congenital, 2, with or without brain or eye anomalies; MPDZ congenital hydrocephalus; congenital hydrocephalus caused by mutation in MPDZ; hydrocephalus, nonsyndromic, autosomal recessive type 2
Definition	Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.
Disease Hierarchy	DIS7O6UL: Congenital hydrocephalus DISET7WL: Hydrocephalus, nonsyndromic, autosomal recessive 2
Disease Identifiers	MONDO ID MONDO_0014085 UMLS CUI C3554691 OMIM ID 615219 MedGen ID 767605

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
MPDZ	OT9WY1QM	Strong	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.