Details of Disease

General Information of Disease (ID: DIS7O6UL)

• Disease Name: Congenital hydrocephalus
• Synonyms: HYC3; congenital hydrocephalus
• Definition: Hydrocephalus that is present at birth.
• Disease Hierarchy:
  DISQCXZX: Disorder of development or morphogenesis
  DIS2BIP8: Congenital nervous system disorder
  DISIZUF7: Hydrocephalus
  DISD715V: Hereditary neurological disease
  DIS7O6UL: Congenital hydrocephalus
• Disease Identifiers:
  MONDO ID: MONDO_0016349
  MESH ID: D006849
  UMLS CUI: C0020256
  MedGen ID: 9336
  Orphanet ID: 2185
  SNOMED CT ID: 47032000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
L1CAM	TTC9D3K	Strong	Genetic Variation	[1]
PRCP	TTTJZ4M	Strong	Biomarker	[2]
SLC12A6	TT8DFHE	Strong	Genetic Variation	[1]
SLC12A7	TTU2PCD	Strong	Biomarker	[1]

This Disease Is Related to 18 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCDC88C	OTIU02BS	Limited	Genetic Variation	[3]
CCND2	OTDULQF9	Limited	Biomarker	[4]
CRPPA	OTC85K8Q	Limited	Biomarker	[5]
TRIM71	OTH8UB6H	Limited	Biomarker	[6]
AP1S2	OTZHJFYI	Strong	Genetic Variation	[7]
CLDN10	OT2CVAKY	Strong	Genetic Variation	[8]
EML1	OTOP2E01	Strong	Genetic Variation	[7]
FZD3	OTIWDN78	Strong	Posttranslational Modification	[9]
GMNC	OTMORU7G	Strong	Biomarker	[10]
HYDIN	OTY88F5F	Strong	Genetic Variation	[11]
IFT122	OTSK3OAD	Strong	Biomarker	[12]
ISLR2	OTUJZIDC	Strong	Genetic Variation	[13]
MPDZ	OT9WY1QM	Strong	Biomarker	[14]
NME7	OTYMBK3Q	Strong	Biomarker	[15]
POMK	OT36HLDO	Strong	Biomarker	[16]
RFX4	OTYFRHPA	Strong	Genetic Variation	[17]
SIN3A	OTM8OZWV	Strong	Biomarker	[18]
SNX27	OTVPS7S0	Strong	Biomarker	[19]

References

• [1] SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.Mol Genet Genomic Med. 2019 Sep;7(9):e892. doi: 10.1002/mgg3.892. Epub 2019 Aug 8.
• [2] The Trp73 Mutant Mice: A Ciliopathy Model That Uncouples Ciliogenesis From Planar Cell Polarity.Front Genet. 2019 Mar 15;10:154. doi: 10.3389/fgene.2019.00154. eCollection 2019.
• [3] Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.Am J Med Genet A. 2018 Mar;176(3):676-681. doi: 10.1002/ajmg.a.38592. Epub 2018 Jan 17.
• [4] A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.Neuropediatrics. 2018 Jun;49(3):222-224. doi: 10.1055/s-0038-1641722. Epub 2018 Apr 11.
• [5] Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of -dystroglycan.Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253.
• [6] Trim71/lin-41 Links an Ancient miRNA Pathway to Human Congenital Hydrocephalus.Trends Mol Med. 2019 Jun;25(6):467-469. doi: 10.1016/j.molmed.2019.03.004. Epub 2019 Apr 8.
• [7] The genetic landscape of familial congenital hydrocephalus.Ann Neurol. 2017 Jun;81(6):890-897. doi: 10.1002/ana.24964.
• [8] The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus.Cell. 1998 Jun 12;93(6):985-96. doi: 10.1016/s0092-8674(00)81204-0.
• [9] Impaired methylation modifications of FZD3 alter chromatin accessibility and are involved in congenital hydrocephalus pathogenesis.Brain Res. 2014 Jun 20;1569:48-56. doi: 10.1016/j.brainres.2014.04.010. Epub 2014 May 2.
• [10] GemC1 is a critical switch for neural stem cell generation in the postnatal brain.Glia. 2019 Dec;67(12):2360-2373. doi: 10.1002/glia.23690. Epub 2019 Jul 22.
• [11] Alternative variants of human HYDIN are novel cancer-associated antigens recognized by adaptive immunity.Cancer Immunol Res. 2013 Sep;1(3):190-200. doi: 10.1158/2326-6066.CIR-13-0079. Epub 2013 Jul 5.
• [12] Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet. 2010 Jun 11;86(6):949-56. doi: 10.1016/j.ajhg.2010.04.012. Epub 2010 May 20.
• [13] A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.Hum Genet. 2019 Jan;138(1):105-107. doi: 10.1007/s00439-018-1963-3. Epub 2018 Nov 27.
• [14] Murine MPDZ-linked hydrocephalus is caused by hyperpermeability of the choroid plexus.EMBO Mol Med. 2019 Jan;11(1):e9540. doi: 10.15252/emmm.201809540.
• [15] A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis. Hum Mutat. 2016 Aug;37(8):727-31. doi: 10.1002/humu.22998. Epub 2016 May 9.
• [16] Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.Am J Med Genet A. 2020 Mar;182(3):536-542. doi: 10.1002/ajmg.a.61453. Epub 2019 Dec 12.
• [17] Conditional ablation of the RFX4 isoform 1 transcription factor: Allele dosage effects on brain phenotype.PLoS One. 2018 Jan 3;13(1):e0190561. doi: 10.1371/journal.pone.0190561. eCollection 2018.
• [18] Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nat Genet. 2016 Aug;48(8):877-87. doi: 10.1038/ng.3619. Epub 2016 Jul 11.
• [19] SNX27 Deletion Causes Hydrocephalus by Impairing Ependymal Cell Differentiation and Ciliogenesis.J Neurosci. 2016 Dec 14;36(50):12586-12597. doi: 10.1523/JNEUROSCI.1620-16.2016.