Details of Disease

General Information of Disease (ID: DISCYZI4)

• Disease Name: Hydrocephalus, nonsyndromic, autosomal recessive 1
• Synonyms: ventriculomegaly; hydrocephaly; HYC1; CCDC88C congenital hydrocephalus; hydrocephalus, congenital, 1; hydrocephalus, nonsyndromic, autosomal recessive type 1; congenital hydrocephalus caused by mutation in CCDC88C; hydrocephalus, nonsyndromic, autosomal recessive 1
• Definition: Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene.
• Disease Hierarchy:
  DISCPWH9: Autosomal recessive disease
  DIS7O6UL: Congenital hydrocephalus
  DISCYZI4: Hydrocephalus, nonsyndromic, autosomal recessive 1
• Disease Identifiers:
  MONDO ID: MONDO_0009360
  UMLS CUI: C3887608
  OMIM ID: 236600
  MedGen ID: 854455

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS20	OTU0EKLN	Strong	Genetic Variation	[1]
B3GLCT	OTXH6KOQ	Strong	Genetic Variation	[1]
BBS9	OT23V9YF	Strong	Biomarker	[2]
CCDC88C	OTIU02BS	Strong	Autosomal recessive	[3]
PAK3	OT80M3BV	Strong	Genetic Variation	[4]

References

• [1] ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.Hum Mol Genet. 2019 Dec 15;28(24):4053-4066. doi: 10.1093/hmg/ddz225.
• [2] Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects.PLoS One. 2012;7(3):e34389. doi: 10.1371/journal.pone.0034389. Epub 2012 Mar 29.
• [3] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [4] PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.Neurobiol Dis. 2020 Mar;136:104709. doi: 10.1016/j.nbd.2019.104709. Epub 2019 Dec 14.