DWS
MCID: DND001
MIFTS: 42

Dandy-Walker Syndrome (DWS)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dandy-Walker Syndrome

MalaCards integrated aliases for Dandy-Walker Syndrome:

Name: Dandy-Walker Syndrome 58 12 77 55 38 30 13 6 45 15 17 74
Atresia of Foramina of Magendie and Luschka 12
Isolated Dandy-Walker Malformation 60
Dws 58

Characteristics:

Orphanet epidemiological data:

60
isolated dandy-walker malformation
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
isolated cases


HPO:

33
dandy-walker syndrome:
Inheritance heterogeneous sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:2785
OMIM 58 220200
KEGG 38 H01678
MeSH 45 D003616
NCIt 51 C75012
SNOMED-CT 69 14447001
ICD10 34 Q03.1
ICD10 via Orphanet 35 Q03.1
UMLS via Orphanet 75 C0010964
Orphanet 60 ORPHA217
MedGen 43 C0010964
UMLS 74 C0010964

Summaries for Dandy-Walker Syndrome

NINDS : 55 Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back of the brain that coordinates movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size and pressure of the fluid spaces surrounding the brain (hydrocephalus) may also be present. The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure (pressure within the skull) such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, abnormal breathing problems, and problems with the nerves that control the eyes, face and neck. Dandy-Walker Syndrome is sometimes associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes.

MalaCards based summary : Dandy-Walker Syndrome, also known as atresia of foramina of magendie and luschka, is related to dandy-walker complex and corpus callosum, agenesis of, and has symptoms including cerebellar ataxia and ataxia, truncal. An important gene associated with Dandy-Walker Syndrome is DWS (Dandy-Walker Syndrome). The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and heart, and related phenotypes are prominent occiput and platybasia

Disease Ontology : 12 A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle.

OMIM : 58 Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985). (220200)

Wikipedia : 77 Dandy–Walker syndrome is a rare group of congenital human brain malformations. There are three subtypes... more...

Related Diseases for Dandy-Walker Syndrome

Diseases related to Dandy-Walker Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 dandy-walker complex 12.1
2 corpus callosum, agenesis of 11.8
3 syringohydromyelia 11.4
4 hydromyelia 11.4
5 cone-rod dystrophy and hearing loss 2 11.1
6 congenital non-communicating hydrocephalus 10.6
7 isolated dandy-walker malformation without hydrocephalus 10.6
8 isolated dandy-walker malformation with hydrocephalus 10.6
9 blake pouch cyst 10.6
10 hydrocephalus 10.5
11 meningocele 10.4
12 congenital hydrocephalus 10.4
13 syringomyelia 10.3
14 melanosis, neurocutaneous 10.2
15 scoliosis 10.2
16 arachnoid cysts 10.2
17 chromosomal triplication 10.2
18 encephalocele 10.2
19 dwarfism 10.2
20 cholesteatoma of middle ear 10.2
21 patulous eustachian tube 10.1
22 cherubism 10.1
23 lipomatosis, multiple 10.1
24 polydactyly, postaxial, type a1 10.1
25 trigeminal neuralgia 10.1
26 chiari malformation type ii 10.1
27 joubert syndrome 1 10.1
28 marinesco-sjogren syndrome 10.1
29 myasthenia gravis 10.1
30 sjogren syndrome 10.1
31 carnitine palmitoyltransferase ii deficiency, infantile 10.1
32 polydactyly 10.1
33 bipolar disorder 10.1
34 breast reconstruction 10.1
35 burns 10.1
36 osteopetrosis 10.1
37 renal tubular acidosis 10.1
38 pleomorphic lipoma 10.1
39 sarcoma 10.1
40 heart disease 10.1
41 polyneuropathy 10.1
42 hypothyroidism 10.1
43 epilepsy 10.1
44 cutis laxa 10.1
45 turner syndrome 10.1
46 macular retinal edema 10.1
47 chronic polyneuropathy 10.1
48 conjunctivitis 10.1
49 neuropathy 10.1
50 diabetes insipidus 10.1

Graphical network of the top 20 diseases related to Dandy-Walker Syndrome:



Diseases related to Dandy-Walker Syndrome

Symptoms & Phenotypes for Dandy-Walker Syndrome

Human phenotypes related to Dandy-Walker Syndrome:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prominent occiput 60 33 hallmark (90%) Very frequent (99-80%) HP:0000269
2 platybasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002691
3 dandy-walker malformation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001305
4 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
5 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
6 tetralogy of fallot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001636
7 aplasia/hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007370
8 encephalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002084
9 hydrocephalus 33 HP:0000238
10 nystagmus 33 HP:0000639
11 cranial nerve paralysis 33 HP:0006824
12 abnormality of the cardiovascular system 60 Occasional (29-5%)
13 truncal ataxia 33 HP:0002078
14 dilated fourth ventricle 33 HP:0002198
15 agenesis of cerebellar vermis 33 HP:0002335
16 partial absence of cerebellar vermis 33 HP:0002951
17 elevated imprint of the transverse sinuses 33 HP:0000930
18 posterior fossa cyst at the fourth ventricle 33 HP:0000933
19 thinning and bulging of the posterior fossa bones 33 HP:0000931

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hydrocephalus
truncal ataxia
dilated fourth ventricle
cranial nerve palsies
elevated imprint of the transverse sinuses
more
Head And Neck Head:
bulging occiput

Laboratory Abnormalities:
interstitial deletions of 3q, de novo (in some patients)

Head And Neck Eyes:
nystagmus

Skeletal Skull:
thinning and bulging of posterior fossa bones

Clinical features from OMIM:

220200

UMLS symptoms related to Dandy-Walker Syndrome:


cerebellar ataxia, ataxia, truncal

Drugs & Therapeutics for Dandy-Walker Syndrome

Drugs for Dandy-Walker Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
2 Brain Development Research Program Recruiting NCT00305305
3 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224

Search NIH Clinical Center for Dandy-Walker Syndrome

Cochrane evidence based reviews: dandy-walker syndrome

Genetic Tests for Dandy-Walker Syndrome

Genetic tests related to Dandy-Walker Syndrome:

# Genetic test Affiliating Genes
1 Dandy-Walker Syndrome 30

Anatomical Context for Dandy-Walker Syndrome

MalaCards organs/tissues related to Dandy-Walker Syndrome:

42
Brain, Cerebellum, Heart, Eye, Spinal Cord, Bone, Liver

Publications for Dandy-Walker Syndrome

Articles related to Dandy-Walker Syndrome:

(show top 50) (show all 180)
# Title Authors Year
1
Ligneous conjunctivitis in a Dandy-Walker syndrome: A rare case report. ( 30574926 )
2019
2
Dandy-Walker syndrome associated with syringomyelia in an adult: a case report and literature review. ( 30799663 )
2019
3
Lessons Learned From a Burn-Injured Pediatric Patient With Dandy-Walker Syndrome After Multiple Anesthetics: A Case Report. ( 30985318 )
2019
4
Dandy-Walker Syndrome with Giant Cell Lesions and Cherubism. ( 29963440 )
2018
5
Paediatric Salzmann's nodular degeneration in Dandy-Walker syndrome variant. ( 29165863 )
2018
6
Bilateral Macular Edema: A New Ocular Feature of Dandy-Walker Syndrome. ( 27077329 )
2017
7
The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports. ( 28635420 )
2017
8
Psychosis in a Case of Dandy-Walker Syndrome: A Case Report. ( 28658885 )
2017
9
Scoliosis correction in an adolescent patient with Dandy-Walker syndrome: A case report. ( 28757843 )
2017
10
Foveal hypoplasia associated with Dandy-Walker syndrome. ( 28774532 )
2017
11
Case 6: Ascites in a 20-year-old Man with Dandy-Walker Syndrome, Hydrocephalus, and Ventriculoperitoneal Shunt. ( 28972056 )
2017
12
Dandy-Walker syndrome with duplex kidney abnormalities in trisomy 18 - A rare case report. ( 29037562 )
2017
13
X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report. ( 29177011 )
2017
14
Scoliosis in Dandy-Walker syndrome: a case report and review of literature. ( 29354751 )
2017
15
Dandy Walker Syndrome: A Rare Presentation in Adult. ( 29319270 )
2017
16
PET/CT in a Patient Diagnosed With Dandy-Walker Syndrome. ( 26053730 )
2016
17
Dandy Walker syndrome with giant occipital meningocele with craniovertebral anomalies: Challenges faced during anaesthesia. ( 26962265 )
2016
18
Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome. ( 27106665 )
2016
19
Dandy Walker Syndrome: A Rare Presentation in Adult. ( 27766825 )
2016
20
A rare case of giant occipital meningocele with Dandy Walker Syndrome: Can it grow bigger than this? ( 28217162 )
2016
21
Structure elucidation and NMR assignments of daldinone E and rickenyl F from the fungus Hypoxylon sp. DWS T-P-6. ( 27028453 )
2016
22
[Intravenous Sedation and Repeated "the Same Day General Anesthesia" for a School-age Boy with Dandy-Walker Syndrome and Dentinogenesis]. ( 27097514 )
2016
23
Bipolar Disorder in a Young Girl with Dandy-Walker Syndrome. ( 26877755 )
2015
24
The natural history of Dandy-Walker syndrome in the United States: A population-based analysis. ( 25552847 )
2015
25
Dandy-Walker syndrome with severe velopharyngeal dysfunction: a contraindication for Le Fort I surgery? ( 25565232 )
2015
26
Central diabetes insipidus, central hypothyroidism, renal tubular acidosis and dandy-walker syndrome: new associations. ( 25861538 )
2015
27
Mortality of Dandy-Walker syndrome in the United States: Analysis by race, gender, and insurance status. ( 25883477 )
2015
28
Rapid resolution of an acute subdural hematoma in Dandy Walker syndrome. ( 25948011 )
2015
29
Long-term follow-up of successful treatment for dandy-walker syndrome (DWS). ( 26770421 )
2015
30
The evaluation of diastolic function using the diastolic wall strain (DWS) before and after radical surgery for congenital diaphragmatic hernia. ( 26302713 )
2015
31
Oral findings and dental treatment in a patient with Dandy-Walker syndrome: a case report. ( 24712511 )
2014
32
Dandy-Walker syndrome with psychotic symptoms: a case report. ( 24770576 )
2014
33
Phase-based treatment of a complex severely mentally ill case involving complex posttraumatic stress disorder and psychosis related to Dandy Walker syndrome. ( 24983777 )
2014
34
Asymptomatic Dandy-Walker syndrome in an adult. ( 25584127 )
2014
35
Anesthetic management of an adolescent with Dandy-Walker syndrome. ( 23460934 )
2013
36
Central brain herniation in Dandy-Walker syndrome. ( 23801502 )
2013
37
Authors' response to Letter to the Editor "Central brain herniation in Dandy Walker syndrome". ( 23846390 )
2013
38
Trigeminal neuralgia due to Dandy-Walker syndrome. ( 23851831 )
2013
39
Ultrasonographic evaluation of the peripheral nerves in a patient with chronic neuropathy and dandy-walker syndrome. ( 22157500 )
2012
40
A case series of 12 patients with incidental asymptomatic Dandy-Walker syndrome and management. ( 22476659 )
2012
41
Dandy Walker Syndrome with Tessier 7 Cleft-a Rare Case Report and a Surgical Note on the Use of Vermilion Flap and Lazy W-Plasty. ( 23997496 )
2012
42
Cochlear implantation in patient with Dandy-walker syndrome. ( 25991966 )
2012
43
Rheology and DWS microrheology of concentrated suspensions of the semiflexible filamentous fd virus. ( 22610819 )
2012
44
Successful treatment of Dandy-Walker syndrome by endoscopic third ventriculostomy in a 6-month-old girl with progressive hydrocephalus: a case report and literature review. ( 21385657 )
2011
45
Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. ( 21641254 )
2011
46
Invalidating headaches as a symptom of pulmonary embolism in a Dandy-Walker syndrome with ventriculoatrial shunt. ( 21749565 )
2011
47
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. ( 21956720 )
2011
48
Ocular findings in a case of trisomy 18 with variant of Dandy-Walker syndrome. ( 20951360 )
2010
49
Racial disparities in mortality among infants with Dandy-Walker syndrome. ( 19476199 )
2009
50
Low bispectral index values after treatment for seizures in Dandy-Walker syndrome. ( 19645988 )
2009

Variations for Dandy-Walker Syndrome

ClinVar genetic disease variations for Dandy-Walker Syndrome:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh38 Chromosome 4, 122207168: 122207168
2 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh37 Chromosome 4, 123128323: 123128323
3 DPH1 NM_001383.4(DPH1): c.701T> C (p.Leu234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882250 GRCh38 Chromosome 17, 2039760: 2039760
4 DPH1 NM_001383.4(DPH1): c.701T> C (p.Leu234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882250 GRCh37 Chromosome 17, 1943054: 1943054
5 TMEM47 NM_031442.3(TMEM47): c.35G> C (p.Arg12Pro) single nucleotide variant Likely pathogenic rs1114167296 GRCh37 Chromosome X, 34675112: 34675112
6 TMEM47 NM_031442.3(TMEM47): c.35G> C (p.Arg12Pro) single nucleotide variant Likely pathogenic rs1114167296 GRCh38 Chromosome X, 34656995: 34656995
7 MAGED2 NM_201222.2(MAGED2): c.1003delC (p.Gln335Asnfs) deletion Likely pathogenic rs1114167295 GRCh38 Chromosome X, 54812169: 54812169
8 MAGED2 NM_201222.2(MAGED2): c.1003delC (p.Gln335Asnfs) deletion Likely pathogenic rs1114167295 GRCh37 Chromosome X, 54838602: 54838602
9 CHN1 NM_001822.5(CHN1): c.667G> A (p.Ala223Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 175689207: 175689207
10 CHN1 NM_001822.5(CHN1): c.667G> A (p.Ala223Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 174824479: 174824479
11 KIF1A NM_001244008.1(KIF1A): c.3052C> T (p.His1018Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 241686664: 241686664
12 KIF1A NM_001244008.1(KIF1A): c.3052C> T (p.His1018Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 240747247: 240747247
13 WFS1 NM_006005.3(WFS1): c.1999C> T (p.Gln667Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 6303521: 6303521
14 WFS1 NM_006005.3(WFS1): c.1999C> T (p.Gln667Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 6301794: 6301794

Expression for Dandy-Walker Syndrome

Search GEO for disease gene expression data for Dandy-Walker Syndrome.

Pathways for Dandy-Walker Syndrome

GO Terms for Dandy-Walker Syndrome

Sources for Dandy-Walker Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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