MCID: DND001
MIFTS: 39

Dandy-Walker Syndrome malady

Genetic diseases (common), Neuronal diseases categories

Aliases & Classifications for Dandy-Walker Syndrome

About this section

Aliases & Descriptions for Dandy-Walker Syndrome:

Name: Dandy-Walker Syndrome 49 10 11 46 12 65 36
Atresia of Foramina of Magendie and Luschka 10
Atresia of Foramina of Magendie + Luschka 10
Dandy - Walker Syndrome 10
 
Dandy-Walker Variant 24
Dandy Walker Variant 65
Dandy Walker Cyst 65


Classifications:



External Ids:

OMIM49 220200
Disease Ontology10 DOID:2785
MeSH36 D003616
SNOMED-CT59 204063009, 14447001
NCIt42 C75012
ICD1027 Q03.1

Summaries for Dandy-Walker Syndrome

About this section
NINDS:46 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 based summary: Dandy-Walker Syndrome, also known as atresia of foramina of magendie and luschka, is related to dandy-walker malformation with facial hemangioma and isolated dandy-walker malformation, and has symptoms including prominent occiput, dandy-walker malformation and abnormality of the vertebrae. An important gene associated with Dandy-Walker Syndrome is DWS (Dandy-Walker Syndrome). Affiliated tissues include brain, cerebellum and spinal cord.

OMIM:49 Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of... (220200) more...

Related Diseases for Dandy-Walker Syndrome

About this section

Diseases in the Dandy-Walker Syndrome family:

Dws-Related Dandy Walker Syndrome

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1dandy-walker malformation with facial hemangioma10.6
2isolated dandy-walker malformation10.6
3congenital non-communicating hydrocephalus10.6
4isolated dandy-walker malformation without hydrocephalus10.6
5isolated dandy-walker malformation with hydrocephalus10.6
6blake pouch cyst10.6
7hydrocephalus10.6
8meningocele10.5
9dws-related dandy walker syndrome10.5
10arachnoiditis10.4
11syringomyelia10.4
12arachnoid cysts10.4
13dandy-walker complex10.4
14congenital hydrocephalus10.4
15schizophrenia10.3
16coffin-siris syndrome10.3
17moebius syndrome10.3
18obsessive-compulsive disorder10.3
19menkes disease10.3
20thrombocytopenia10.3
21siderosis10.3
22bipolar i disorder10.3
23cervicitis10.3
24meningoencephalocele10.3
25lipoma10.2
26breast reconstruction10.2
27hemangioma10.2
28myasthenia gravis10.2
29osteopetrosis10.2
30renal tubular acidosis10.2
31trigeminal neuralgia10.2
32polydactyly10.2
33choroiditis10.2
34diabetes insipidus10.2
35cutis laxa10.2
36neurofibromatosis10.2
37carnitine palmitoyltransferase ii deficiency10.2
38chronic polyneuropathy10.2
39hypothyroidism10.2
40neuropathy10.2
41polyneuropathy10.2
42pulmonary embolism10.2
43bobble-head doll syndrome10.2
44cerebellar hypoplasia10.2
45cerebrospinal fluid leak10.2
46chiari malformation10.2
47encephalocele10.2
48isolated corpus callosum agenesis10.2
49head injury10.2
50headache10.2

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



Diseases related to dandy-walker syndrome

Symptoms for Dandy-Walker Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

220200

Clinical features from OMIM:

220200

HPO human phenotypes related to Dandy-Walker Syndrome:

(show all 20)
id Description Frequency HPO Source Accession
1 prominent occiput hallmark (90%) HP:0000269
2 dandy-walker malformation hallmark (90%) HP:0001305
3 abnormality of the vertebrae hallmark (90%) HP:0003468
4 frontal bossing typical (50%) HP:0002007
5 abnormality of the urinary system occasional (7.5%) HP:0000079
6 cleft palate occasional (7.5%) HP:0000175
7 tetralogy of fallot occasional (7.5%) HP:0001636
8 encephalocele occasional (7.5%) HP:0002084
9 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
10 hydrocephalus HP:0000238
11 nystagmus HP:0000639
12 elevated imprint of the transverse sinuses HP:0000930
13 thinning and bulging of the posterior fossa bones HP:0000931
14 posterior fossa cyst at the fourth ventricle HP:0000933
15 heterogeneous HP:0001425
16 truncal ataxia HP:0002078
17 dilated fourth ventricle HP:0002198
18 agenesis of cerebellar vermis HP:0002335
19 partial absence of cerebellar vermis HP:0002951
20 cranial nerve paralysis HP:0006824

Drugs & Therapeutics for Dandy-Walker Syndrome

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224
2Brain Development Research ProgramRecruitingNCT00305305
3Genetic Analysis of PHACE Syndrome (Hemangioma With Other Congenital Anomalies)RecruitingNCT01016756
4Detection and Quantification of Neonatal Intraventricular HemorrhageEnrolling by invitationNCT01899651

Search NIH Clinical Center for Dandy-Walker Syndrome


Cochrane evidence based reviews: Dandy-Walker Syndrome

Genetic Tests for Dandy-Walker Syndrome

About this section

Genetic tests related to Dandy-Walker Syndrome:

id Genetic test Affiliating Genes
1 Dandy-Walker Syndrome24

Anatomical Context for Dandy-Walker Syndrome

About this section

MalaCards organs/tissues related to Dandy-Walker Syndrome:

33
Brain, Cerebellum, Spinal cord, Bone, Breast, Heart

Animal Models for Dandy-Walker Syndrome or affiliated genes

About this section

Publications for Dandy-Walker Syndrome

About this section

Articles related to Dandy-Walker Syndrome:

(show top 50)    (show all 147)
idTitleAuthorsYear
1
Mortality of Dandy-Walker syndrome in the United States: Analysis by race, gender, and insurance status. (25883477)
2015
2
Asymptomatic Dandy-Walker syndrome in an adult. (25584127)
2014
3
Trigeminal neuralgia due to Dandy-Walker syndrome. (23851831)
2013
4
Low bispectral index values after treatment for seizures in Dandy-Walker syndrome. (19645988)
2009
5
Dandy-Walker syndrome, associated anomalies and survival through infancy: a population-based study. (18648217)
2008
6
Cerebrospinal fluid leak after immediate tissue expander breast reconstruction in a patient with Dandy-Walker syndrome. (18453959)
2008
7
Dandy-Walker syndrome and monochorionic twins: insight into a possible etiological mechanism. (18979394)
2008
8
Dandy-Walker syndrome in adult mimicking myasthenia gravis. (17420852)
2007
9
Endoscopic, single-catheter treatment of Dandy-Walker syndrome hydrocephalus: technical case report and review of treatment options. (16195680)
2005
10
Giant occipital meningocele as a presenting feature of Dandy-Walker syndrome. (15347883)
2004
11
A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. (12892171)
2003
12
Old age presentation of the Dandy-Walker syndrome associated with unilateral sudden sensorineural deafness and vertigo. (11827588)
2002
13
Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum. (11822087)
2001
14
Crocodile tears and Dandy-Walker syndrome in cervico-oculo-acoustic syndrome. (10505838)
1999
15
Dandy-Walker syndrome successfully treated with cystoperitoneal shunting--case report. (10598445)
1999
16
Seizures and the Dandy-Walker syndrome: a case of suspected pseudoseizures. (8711081)
1996
17
Anesthetic management of a neonate with Dandy-Walker syndrome. (23568125)
1994
18
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
19
The Dandy-Walker syndrome: the value of antenatal diagnosis. (1555367)
1992
20
Congenital hydrocephalus mimicking Dandy-Walker syndrome induced by 6-aminonicotinamide injection in pregnant rat. (1724296)
1991
21
The Dandy-Walker syndrome: diagnostic and surgical considerations. (1764229)
1991
22
The Dandy-Walker syndrome. Relevance to anaesthesia and intensive care. (2205120)
1990
23
CSF dynamics in Dandy-Walker syndrome. (2386089)
1990
24
Coexistence of Dandy-Walker syndrome and Down's syndrome. (2524010)
1989
25
Agenesis of the corpus callosum with cerebellar vermian hypoplasia in a foal resembling the Dandy-Walker syndrome: pre-mortem diagnosis by clinical evaluation and CT scanning. (2776727)
1989
26
Two cases of Dandy-Walker syndrome and chronic polyneuropathy. (2485913)
1989
27
Magnetic resonance imaging of an adult with the Dandy-Walker syndrome. (3249328)
1988
28
Antenatal diagnosis and obstetric management of Dandy-Walker syndrome. (3543341)
1986
29
Electrophysiological assessment of motor control in a case of Dandy-Walker syndrome. (4091060)
1985
30
Dandy-Walker syndrome diagnosed in utero. (6682509)
1983
31
Dandy-Walker syndrome without hydrocephalus in an adult. (6680029)
1983
32
Dandy-Walker syndrome: analysis of 21 cases. (7380119)
1980
33
The dysraphic state of the posterior fossa. Clinical review of the Dandy-Walker syndrome and the so-called arachnoid cysts. (536750)
1979
34
Problems of diagnosis and treatment in the Dandy-Walker syndrome. (446192)
1979
35
Failure of pyramidal tract decussation in the Dandy-Walker syndrome. Report of two cases. (422992)
1979
36
Adult onset of the Dandy-Walker syndrome. (697607)
1978
37
Parinaud's syndrome, false localising sign of pseudo-Dandy-Walker syndrome. (756328)
1978
38
Dandy-Walker syndrome: clinico-pathological features and re-evaluation of modes of treatment. (888088)
1977
39
An autopsy case of the Dandy-Walker syndrome. (1024679)
1976
40
Dandy-Walker syndrome associated with congenital heart defects: report of three cases. (1060596)
1975
41
Cystic lesions of the posterior fossa in infants: a comparison of the clinical, radiological, and pathological findings in Dandy-Walker syndrome and extra-axial cysts. (5314328)
1971
42
The value of angiography in the Dandy-Walker syndrome and posterior fossa extra-axial cysts. (5310272)
1970
43
X-ray of the month. The Dandy-Walker syndrome. (5351754)
1969
44
Obstruction following posterior fossa surgery: the postoperative Dandy-Walker syndrome. (5301407)
1968
45
CLINICAL PATHOLOGICAL CONFERENCE: THE DANDY-WALKER SYNDROME. (14105052)
1964
46
THE DANDY WALKER SYNDROME. (14248489)
1964
47
Cystic enlargement and obstruction of the fourth ventricle following posterior fossa surgery. The postoperative Dandy-Walker syndrome. (14497853)
1962
48
The Dandy-Walker syndrome. A report of three cases. (13752182)
1961
49
Radiologic aspects of Dandy-Walker syndrome. (14442229)
1960
50
The Dandy-Walker syndrome or the so-called atresia of the foramen Magendie. (13118372)
1954

Variations for Dandy-Walker Syndrome

About this section

Expression for genes affiliated with Dandy-Walker Syndrome

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

Pathways for genes affiliated with Dandy-Walker Syndrome

About this section

GO Terms for genes affiliated with Dandy-Walker Syndrome

About this section

Biological processes related to Dandy-Walker Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1central nervous system developmentGO:00074179.1SOX3, ZIC2

Sources for Dandy-Walker Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet