MCID: DND001
MIFTS: 52

Dandy-Walker Syndrome malady

Neuronal, Fetal categories

Summaries for Dandy-Walker Syndrome

Sources:
44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls 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 of the fluid spaces surrounding the brain as well as an increase in pressure may also be present.

MalaCards: Dandy-Walker Syndrome, also known as dandy-walker malformation, is related to n syndrome and adult syndrome, and has symptoms including frontal bossing/prominent forehead, autosomal recessive inheritance and corpus callosum/septum pellucidum total/partial agenesis. An important gene associated with Dandy-Walker Syndrome is DWS (dandy-walker syndrome), and among its related pathways is Primary immunodeficiency. The compounds sulfolipid i and sandoglobulin have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and spinal cord.

Genetics Home Reference:21 Dandy-Walker syndrome is a condition that affects brain development, primarily development of the part of the brain that coordinates movement (the cerebellum). In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. The central part of the cerebellum, known as the vermis, is absent or very small. Cysts form in the fourth ventricle, which is a fluid-filled cavity between the brainstem and the cerebellum, causing the ventricle to enlarge. The part of the skull that contains the cerebellum and the brainstem, called the posterior fossa, is abnormally large. These abnormalities often result in problems with movement, coordination, intellect, and other neurological functions.

Wikipedia:64 Dandy–Walker syndrome (DWS), or Dandy–Walker complex, is a congenital brain malformation involving... more...

Description from OMIM:47 220200

Aliases & Classifications for Dandy-Walker Syndrome

Sources:
8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 61UMLS, 22GTR, 45Novoseek, 49Orphanet, 57SNOMED-CT, 35MeSH, 40NCIt, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
isolated dandy-walker malformation:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

dandy-walker syndrome 8 9 21 44 47 10 61
dandy-walker malformation 21 45
dandy - walker syndrome 8 22
hydrocephalus, noncommunicating, dandy-walker type 21
atresia of foramina of magendie and luschka 8
hydrocephalus, internal, dandy-walker type 21
atresia of foramina of magendie + luschka 8
isolated dandy-walker malformation 49
luschka-magendie foramina atresia 21
dandy-walker deformity 21
dandy-walker complex 21
dandy-walker cyst 21
dandy walker cyst 61


External Ids:

Disease Ontology8 DOID:2785
OMIM47 220200
MeSH35 D003616
SNOMED-CT57 204063009, 14447001
NCIt40 C75012
ICD10 via Orphanet26 Q03.1
ICD1025 Q03.1

Related Diseases for Dandy-Walker Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 141)
idRelated DiseaseScoreTop Affiliating Genes
1n syndrome10.7
2adult syndrome10.7
3meckel syndrome10.6
4dandy-walker malformation with mental retardation basal ganglia disease and seizures10.5
5dandy-walker malformation with postaxial polydactyly10.5
6corpus callosum agenesis10.5
7meningocele10.5
8dandy-walker cyst with renal-hepatic-pancreatic dysplasia10.5
9cystic fibrosis10.5
10dandy-walker malformation with sagittal craniosynostosis and hydrocephalus10.5
11intellectual deficit, x-linked - dandy-walker malformation - basal ganglia disease - seizures10.5
12facial dysmorphism - macrocephaly - myopia - dandy-walker malformation10.5
13spinal muscular atrophy - dandy-walker complex - cataracts10.5
14cerebellar agenesis10.4
15cerebellar hypoplasia10.4
16meckel syndrome 710.4
17microcephaly10.4
18holoprosencephaly10.4
19basal ganglia disease10.4
20micro syndrome10.4
213-m syndrome10.4
22dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia10.4
23dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis10.4
24dandy-walker malformation with facial hemangioma10.4
25dandy-walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy10.4
26kid syndrome10.4
27mental retardation10.4
28isolated dandy-walker malformation without hydrocephalus10.4
29isolated dandy-walker malformation with hydrocephalus10.4
30syringomyelia10.3
31encephalocele10.3
32neurocutaneous melanosis10.3
33dws-related dandy walker syndrome10.3
34rubinstein-taybi syndrome10.2
35spondylocostal dysostosis10.2
36meningeal melanocytoma10.2
37cleft palate10.2
38albinism10.2
39albinism immunodeficiency10.2
40chondrodysplasia10.2
41griscelli syndrome10.2
42porencephaly10.2
43renal-hepatic-pancreatic dysplasia10.2
44rhombencephalosynapsis10.2
45renal dysplasia10.2
46papillary carcinoma10.2
47coloboma10.2
48syndactyly10.2
49hypoparathyroidism10.2
50usher syndrome10.2

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



Diseases related to dandy-walker syndrome

Clinical Features for Dandy-Walker Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

220200

Symptoms:

49 (show all 16)
  • frontal bossing/prominent forehead
  • autosomal recessive inheritance
  • corpus callosum/septum pellucidum total/partial agenesis
  • autosomal dominant inheritance
  • structural anomalies of the cardio-circulatory system
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • prominent occiput/occipital bossing
  • x-linked recessive inheritance
  • insterstitial/subtelomeric microdeletion/deletion
  • tetralogy of fallot/trilogy of fallot
  • dandy-walker anomaly
  • structural anomalies of the kidney and the urinary tract
  • antenatal exposure : rubella
  • encephalocele/exencephaly
  • basilary impression/invagination/cranio-spinal malformation/platybasia
  • antenatal exposure : influenza

Drugs & Therapeutics for Dandy-Walker Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Dandy-Walker Syndrome

Drug clinical trials:

Search ClinicalTrials for Dandy-Walker Syndrome

Search NIH Clinical Center for Dandy-Walker Syndrome

Search CenterWatch for Dandy-Walker Syndrome

Genetic Tests for Dandy-Walker Syndrome

Sources:
22GTR
See all sources

Genetic tests related to Dandy-Walker Syndrome:

id Genetic test Affiliating Genes
1 Dandy-walker Syndrome22

Anatomical Context for Dandy-Walker Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Dandy-Walker Syndrome:

33
Skin, Tongue, Spinal cord, Brain, Kidney, Cerebellum, Heart, Thyroid, Breast, Fetal brain, Fetal thyroid

Animal Models for Dandy-Walker Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Dandy-Walker Syndrome

Sources:
51PubMed
See all sources

Articles related to Dandy-Walker Syndrome:

(show top 50)    (show all 179)
idTitleAuthorsYear
1
Authors' response to Letter to the Editor "Central brain herniation in Dandy Walker syndrome". (23846390)
2013
2
Central brain herniation in Dandy-Walker syndrome. (23801502)
2013
3
Dandy-Walker Malformation, Papillary Thyroid Carcinoma, and SDHD-Associated Paraganglioma Syndrome. (24152682)
2013
4
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. (23161355)
2013
5
Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3. (24039006)
2013
6
Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2. (21412975)
2011
7
Dandy-Walker malformation in Crouzon syndrome. (20413808)
2010
8
Usher syndrome associated with a variant of Dandy-Walker malformation. (21214164)
2010
9
Dandy-Walker syndrome. (18700642)
2008
10
Dandy-Walker syndrome in adult mimicking myasthenia gravis. (17420852)
2007
11
Bobble-head doll syndrome associated with Dandy-Walker syndrome. Case report. (17918536)
2007
12
Endoscopic, single-catheter treatment of Dandy-Walker syndrome hydrocephalus: technical case report and review of treatment options. (16195680)
2005
13
Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion. (15849798)
2005
14
Old age presentation of the Dandy-Walker syndrome associated with unilateral sudden sensorineural deafness and vertigo. (11827588)
2002
15
Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant? (11822700)
2002
16
Dandy Walker Syndrome associated with unusual congenital anomalies. (10951641)
2000
17
Association of large facial hemangiomas with Dandy-Walker syndrome. Case study concerning three infants. (10877082)
2000
18
Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature. (10429359)
1999
19
Dandy-walker syndrome with epilepsy and psychosis : an atypical presentation. (21494468)
1998
20
Seizures and the Dandy-Walker syndrome: a case of suspected pseudoseizures. (8711081)
1996
21
A case of Marden-Walker syndrome with Dandy-Walker malformation. (7543036)
1995
22
Tectocerebellar dysraphia with posterior encephalocele (Friede): report of the youngest case. Reappraisal of the condition uniting Cleland-Chiari (Arnold-Chiari) and Dandy-Walker syndromes. (7955668)
1994
23
Magnetic resonance imaging of choroid tuft in Dandy-Walker syndrome. (8091992)
1994
24
Dandy-Walker syndrome forming a giant occipital meningocele--case report. (7512233)
1993
25
Dandy Walker syndrome and associated polycystic renal disease. (1553023)
1992
26
Congenital hydrocephalus mimicking Dandy-Walker syndrome induced by 6-aminonicotinamide injection in pregnant rat. (1724296)
1991
27
Dandy-Walker malformation, cranial meningocele, ocular abnormalities, and cleft palate: Walker-Warburg syndrome? (1870940)
1991
28
Dandy-Walker malformation in the Meckel syndrome. (2063927)
1991
29
CSF dynamics in Dandy-Walker syndrome. (2386089)
1990
30
The Dandy-Walker syndrome. (2293527)
1990
31
Dandy-Walker malformation in Ellis-van Creveld syndrome. (3223493)
1988
32
Lennox-gastaut syndrome with and without Dandy-Walker malformation. (3504401)
1987
33
Dandy-Walker syndrome and associated anomalies. (3684814)
1987
34
Electrophysiological assessment of motor control in a case of Dandy-Walker syndrome. (4091060)
1985
35
Dandy-Walker syndrome without hydrocephalus in an adult. (6680029)
1983
36
Ultrasonic evaluation of the Dandy-Walker syndrome. (7088419)
1982
37
Dandy-Walker syndrome with atresia of the fourth ventricle and multiple rhombencephalic malformations. (7180388)
1982
38
In utero diagnosis of the Dandy-Walker syndrome: differentiation from extra-axial posterior fossa cyst. (6792240)
1981
39
Dandy-Walker syndrome. Clinical analysis of 23 cases. (6972441)
1981
40
Dandy-Walker syndrome in consecutive siblings: familial hindbrain malformation. (7279160)
1981
41
The dysraphic state of the posterior fossa. Clinical review of the Dandy-Walker syndrome and the so-called arachnoid cysts. (536750)
1979
42
Problems of diagnosis and treatment in the Dandy-Walker syndrome. (446192)
1979
43
Failure of pyramidal tract decussation in the Dandy-Walker syndrome. Report of two cases. (422992)
1979
44
Letter: Genesis of Dandy-Walker syndrome. (1250263)
1976
45
Congenital atresia of the foramen of Magendie, so-called Dandy-Walker syndrome. (1031845)
1976
46
Dandy-Walker syndrome: spectrum of congenital anomalies. (4814175)
1974
47
Inverse cerebellum morphogenetically related to Dandy-Walker and Arnold-Chiari syndromes: bizarre malformed brain with occipital encephalocele. (5075526)
1972
48
The Dandy-Walker syndrome--a case with a patent foramen of the 4th ventricle demonstrated by encephalography. (5311897)
1970
49
CLINICAL PATHOLOGICAL CONFERENCE: THE DANDY-WALKER SYNDROME. (14105052)
1964
50
The Dandy-Walker syndrome. A report of three cases. (13752182)
1961

Genetic Variations for Dandy-Walker Syndrome

Expression for genes affiliated with Dandy-Walker Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Dandy-Walker Syndrome

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

Pathways for genes affiliated with Dandy-Walker Syndrome

Sources:
30KEGG
See all sources

Pathways related to Dandy-Walker Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7CD79A, CD40LG

Compounds for genes affiliated with Dandy-Walker Syndrome

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 50PharmGKB
See all sources

Compounds related to Dandy-Walker Syndrome according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1sulfolipid i4510.0CD79A, CD40LG
2sandoglobulin4510.0CD79A, CD40LG
3gamma globulin4510.0CD79A, CD40LG
4vancomycin45 1111.0CD79A, CD40LG
5pneumococcal4510.0CD40LG, CD79A
6blys459.9CD79A, CD40LG
7tuberculin459.9CD79A, CD40LG
8praziquantel45 1110.9CD79A, CD40LG
9hemocyanin459.9CD40LG, CD79A
10gliadin459.9CD79A, CD40LG
11pmma459.8CD79A, CD40LG
12silicone459.8CD79A, CD40LG
13mannan459.8CD40LG, CD79A
14okt3459.7CD79A, CD40LG
15cardiolipin45 1110.7CD79A, CD40LG
16glutaraldehyde459.6CD79A, CD40LG
17sulfasalazine45 29 50 1112.4CD79A, CD40LG

GO Terms for genes affiliated with Dandy-Walker Syndrome

Sources:
16Gene Ontology
See all sources

Biological processes related to Dandy-Walker Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1B cell proliferationGO:0421009.7CD79A, CD40LG

Products for genes affiliated with Dandy-Walker Syndrome

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  • Antibodies

Sources for Dandy-Walker Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet