Details of Disease

General Information of Disease (ID: DIS4HC6W)

• Disease Name: Dandy-Walker syndrome
• Synonyms: Dandy-Walker malformation; Dandy-Walker complex; DW complex; isolated Dandy-Walker malformation; Dandy-Walker syndrome or malformation (type of DW complex); Dandy-Walker variant (type of DW complex); DWS; mega cisterna magna (type of DW complex); Dandy Walker Malformation; Dandy-Walker syndrome, Isolated cases; atresia of foramina of Magendie and Luschka; Dandy-Walker syndrome
• Definition: Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia.
• Disease Hierarchy:
  DIS2O7WM: Cerebellar disorder
  DISSJCKH: Cystic malformation of the posterior fossa
  DIS4HC6W: Dandy-Walker syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009072
  MESH ID: D003616
  UMLS CUI: C0010964
  OMIM ID: 220200
  MedGen ID: 4150
  HPO ID: HP:0001305
  Orphanet ID: 217
  SNOMED CT ID: 14447001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZIC1	OTP5E23B	Limited	Autosomal dominant	[1]
NID1	OTKLBLS6	moderate	Biomarker	[5]
AP1S2	OTZHJFYI	Strong	Genetic Variation	[6]
BUB1B	OT8KME51	Strong	Biomarker	[7]
COG8	OTDEA7YO	Strong	Biomarker	[8]
FGF17	OTAQSFZ2	Strong	Genetic Variation	[9]
LAMC1	OTIG527N	Strong	Genetic Variation	[10]
MKS1	OT83W5PB	Strong	Biomarker	[11]
NDUFA4	OTDVH3QG	Strong	Genetic Variation	[12]
NPHP1	OTZHCFFQ	Strong	Genetic Variation	[13]
NXPH1	OTGKX860	Strong	Genetic Variation	[13]
PHF14	OTZT3GV1	Strong	Genetic Variation	[12]
SIL1	OTDI85I5	Strong	Genetic Variation	[14]

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EBP	TT4VQZX	Strong	Genetic Variation	[2]
FOXC1	TTNT3YA	Strong	Biomarker	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHCR7	DEL7GFA	Strong	Genetic Variation	[4]

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.
• [2] A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.Am J Med Genet A. 2010 Nov;152A(11):2838-44. doi: 10.1002/ajmg.a.33674.
• [3] 6p25 microdeletion: white matter abnormalities in an adult patient.Am J Med Genet A. 2013 Jul;161A(7):1686-9. doi: 10.1002/ajmg.a.35937. Epub 2013 May 17.
• [4] Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.Birth Defects Res. 2020 Jan 15;112(2):175-185. doi: 10.1002/bdr2.1620. Epub 2019 Dec 16.
• [5] NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.Am J Med Genet A. 2019 May;179(5):837-841. doi: 10.1002/ajmg.a.61095. Epub 2019 Feb 17.
• [6] AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet. 2014 Mar;22(3):363-8. doi: 10.1038/ejhg.2013.135. Epub 2013 Jun 12.
• [7] Insufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates.Hum Mol Genet. 2011 May 15;20(10):2058-70. doi: 10.1093/hmg/ddr090. Epub 2011 Mar 9.
• [8] The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.Am J Med Genet A. 2019 Mar;179(3):480-485. doi: 10.1002/ajmg.a.61030. Epub 2019 Jan 28.
• [9] FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.Neurogenetics. 2011 Aug;12(3):241-5. doi: 10.1007/s10048-011-0283-8. Epub 2011 Apr 12.
• [10] Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.Hum Mutat. 2013 Aug;34(8):1075-9. doi: 10.1002/humu.22351. Epub 2013 May 28.
• [11] Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.Dev Biol. 2013 May 1;377(1):55-66. doi: 10.1016/j.ydbio.2013.02.015. Epub 2013 Feb 27.
• [12] Prenatal diagnosis and molecular characterization of a novel locus for Dandy-Walker malformation on chromosome 7p21.3.Eur J Med Genet. 2012 Aug-Sep;55(8-9):472-5. doi: 10.1016/j.ejmg.2012.04.008. Epub 2012 May 19.
• [13] Clinical nosologic and genetic aspects of Joubert and related syndromes.J Child Neurol. 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007.
• [14] Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjgren syndrome and Dandy-Walker syndrome.Clin Chim Acta. 2016 Jul 1;458:1-4. doi: 10.1016/j.cca.2016.04.018. Epub 2016 Apr 19.