Details of Disease

General Information of Disease (ID: DISADZS1)

• Disease Name: Van der Woude syndrome
• Synonyms: cleft lip and/or palate with mucous cysts of lower lip; lip pit syndrome; LPS; lip-pit syndrome; VWS; cleft lip/palate with mucous cysts of lower lip
• Definition: Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DISADZS1: Van der Woude syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0019508
  MESH ID: C536528
  UMLS CUI: C0175697
  MedGen ID: 61233
  Orphanet ID: 888
  SNOMED CT ID: 79261008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AIF1	TT12MEP	Limited	Altered Expression	[1]
MAP3K3	TTJZNIG	Limited	Altered Expression	[2]
RIPK4	TTB4S01	Limited	Genetic Variation	[3]
TRPC3	TTNVC34	Limited	Altered Expression	[4]
CNTN2	TT2Z1WB	Strong	Biomarker	[5]
TICAM1	TT2GQT6	Strong	Biomarker	[6]
TIRAP	TTKU0LS	Strong	Biomarker	[6]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC22A4	DT2EG60	Limited	Biomarker	[7]

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AP2A1	OTEFZB21	Limited	Genetic Variation	[8]
DNTT	OTFSEF12	Limited	Biomarker	[9]
LAMB2	OT71OI2Y	Limited	Biomarker	[10]
NHLH1	OTXN5B9R	Limited	Biomarker	[8]
NRF1	OTOXWNV8	Limited	Altered Expression	[11]
TFDP1	OT6RZ7VT	Limited	Altered Expression	[12]
GRHL3	OT1V4ZEH	Supportive	Autosomal dominant	[13]
IRF6	OTKJ44EV	Supportive	Autosomal dominant	[14]
CFAP57	OT0P6D3O	Strong	Genetic Variation	[15]
TRIM69	OTTEGTRD	Strong	Biomarker	[6]

References

• [1] Supplementation of lycopene attenuates lipopolysaccharide-induced amyloidogenesis and cognitive impairments via mediating neuroinflammation and oxidative stress.J Nutr Biochem. 2018 Jun;56:16-25. doi: 10.1016/j.jnutbio.2018.01.009. Epub 2018 Feb 2.
• [2] Rabies virus glycoprotein (RVG29)-linked microRNA-124-loaded polymeric nanoparticles inhibit neuroinflammation in a Parkinson's disease model.Int J Pharm. 2019 Aug 15;567:118449. doi: 10.1016/j.ijpharm.2019.118449. Epub 2019 Jun 18.
• [3] Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.Cell Signal. 2015 Jul;27(7):1509-16. doi: 10.1016/j.cellsig.2015.03.005. Epub 2015 Mar 14.
• [4] Roles and mechanisms of TRPC3 and the PLC/PKC/CPI-17 signaling pathway in regulating parturition.Mol Med Rep. 2018 Jan;17(1):898-910. doi: 10.3892/mmr.2017.7998. Epub 2017 Nov 7.
• [5] The gene for the axonal cell adhesion molecule TAX-1 is amplified and aberrantly expressed in malignant gliomas. Cancer Res. 2001 Mar 1;61(5):2162-8.
• [6] 1-Palmitoyl-2-Linoleoyl-3-Acetyl-rac-Glycerol (PLAG) Rapidly Resolves LPS-Induced Acute Lung Injury Through the Effective Control of Neutrophil Recruitment.Front Immunol. 2019 Sep 18;10:2177. doi: 10.3389/fimmu.2019.02177. eCollection 2019.
• [7] Carnitine/Organic Cation Transporter OCTN1 Negatively Regulates Activation in Murine Cultured Microglial Cells.Neurochem Res. 2018 Jan;43(1):116-128. doi: 10.1007/s11064-017-2350-5. Epub 2017 Jul 8.
• [8] Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.Cleft Palate Craniofac J. 2014 Jan;51(1):49-55. doi: 10.1597/11-220. Epub 2013 Feb 8.
• [9] Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P).Am J Med Genet. 2001 Nov 15;104(1):86-92. doi: 10.1002/1096-8628(20011115)104:1<86::aid-ajmg10053>3.0.co;2-e.
• [10] Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq.Am J Hum Genet. 1990 Mar;46(3):486-91.
• [11] Co-regulation of nuclear respiratory factor-1 by NFkappaB and CREB links LPS-induced inflammation to mitochondrial biogenesis.J Cell Sci. 2010 Aug 1;123(Pt 15):2565-75. doi: 10.1242/jcs.064089. Epub 2010 Jun 29.
• [12] Long noncoding RNA DILC is involved in sepsis by modulating the signaling pathway of the interleukin?/signal transducer and activator of transcription 3/Tolllike receptor 4 axis.Mol Med Rep. 2018 Dec;18(6):5775-5783. doi: 10.3892/mmr.2018.9559. Epub 2018 Oct 16.
• [13] Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. Am J Hum Genet. 2014 Jan 2;94(1):23-32. doi: 10.1016/j.ajhg.2013.11.009. Epub 2013 Dec 19.
• [14] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
• [15] Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.Am J Med Genet A. 2011 Jun;155A(6):1314-21. doi: 10.1002/ajmg.a.33980. Epub 2011 May 13.