MCID: DND001
MIFTS: 57

Dandy-Walker Syndrome malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories

Summaries for Dandy-Walker Syndrome

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45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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NINDS:45 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 osteopetrosis and polyneuropathy, and has symptoms including antenatal exposure : influenza, basilary impression/invagination/cranio-spinal malformation/platybasia and encephalocele/exencephaly. 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 brain, cerebellum and spinal cord.

Wikipedia:66 Dandy?Walker syndrome (DWS), is a congenital brain malformation involving the cerebellum and the fluid... more...

Description from OMIM:48 220200

Aliases & Classifications for Dandy-Walker Syndrome

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Sources:
9Disease Ontology, 10diseasecard, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 63UMLS, 23GTR, 46Novoseek, 50Orphanet, 59SNOMED-CT, 41NCIt, 36MeSH, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
isolated dandy-walker malformation:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

dandy-walker syndrome 9 10 22 45 48 11 63
dandy-walker malformation 22 46
dandy - walker syndrome 9 23
hydrocephalus, noncommunicating, dandy-walker type 22
atresia of foramina of magendie and luschka 9
hydrocephalus, internal, dandy-walker type 22
atresia of foramina of magendie + luschka 9
isolated dandy-walker malformation 50
luschka-magendie foramina atresia 22
dandy-walker deformity 22
dandy-walker complex 22
dandy-walker cyst 22
dandy walker cyst 63


External Ids:

Disease Ontology9 DOID:2785
OMIM48 220200
NCIt41 C75012
MeSH36 D003616
SNOMED-CT59 204063009, 14447001
SNOMED-CT via Orphanet60 14447001
ICD10 via Orphanet27 Q03.1
ICD1026 Q03.1

Related Diseases for Dandy-Walker Syndrome

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Sources:
18GeneCards, 19GeneDecks
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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/GeneDecks gene sharing:

(show top 50)    (show all 174)
idRelated DiseaseScoreTop Affiliating Genes
1osteopetrosis30.4MIR4315-1, MIR4315-2
2polyneuropathy30.3CD40LG, CD79A
3dandy-walker malformation with mental retardation basal ganglia disease and seizures10.6
4dandy-walker malformation with postaxial polydactyly10.6
5dandy-walker malformation with facial hemangioma10.6
6craniosynostosis - dandy-walker malformation - hydrocephalus10.6
7congenital non-communicating hydrocephalus10.6
8isolated dandy-walker malformation without hydrocephalus10.6
9isolated dandy-walker malformation with hydrocephalus10.6
10blake pouch cyst10.6
11hydrocephalus10.6
12cleft palate10.5
13meckel syndrome10.5
14meningocele10.5
15dandy-walker cyst with renal-hepatic-pancreatic dysplasia10.5
16cerebritis10.5
17dandy-walker malformation with sagittal craniosynostosis and hydrocephalus10.5
18facial dysmorphism - macrocephaly - myopia - dandy-walker malformation10.5
19meckel syndrome 710.4
20microcephaly10.4
21holoprosencephaly10.4
22basal ganglia disease10.4
23intellectual disability10.4
24leukodystrophy10.4
25dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis10.4
26dandy-walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy10.4
27dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia10.4
28kid syndrome10.4
29mental retardation10.4
30spinal muscular atrophy - dandy-walker malformation - cataracts10.4
31syringomyelia10.3
32arachnoiditis10.3
33arachnoid cysts10.3
34encephalocele10.3
35neurocutaneous melanosis10.3
36dws-related dandy walker syndrome10.3
37encephaloceles10.3
38rubinstein-taybi syndrome10.3
39cleft lip10.3
40spondylocostal dysostosis10.3
41meningeal melanocytoma10.3
42dysostosis10.3
43hepatitis10.3
44meningitis10.3
45pancreatitis10.3
46albinism10.3
47peters plus syndrome10.3
48albinism immunodeficiency10.3
49chondrodysplasia10.3
50griscelli syndrome10.3

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



Diseases related to dandy-walker syndrome

Symptoms for Dandy-Walker Syndrome

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Sources:
48OMIM, 50Orphanet
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Clinical features from OMIM:

220200

Symptoms:

50 (show all 16)
  • antenatal exposure : influenza
  • basilary impression/invagination/cranio-spinal malformation/platybasia
  • encephalocele/exencephaly
  • antenatal exposure : rubella
  • structural anomalies of the kidney and the urinary tract
  • dandy-walker anomaly
  • 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
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Dandy-Walker Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

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Sources:
23GTR
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Genetic tests related to Dandy-Walker Syndrome:

id Genetic test Affiliating Genes
1 Dandy-Walker Syndrome23

Anatomical Context for Dandy-Walker Syndrome

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Sources:
34MalaCards
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MalaCards organs/tissues related to Dandy-Walker Syndrome:

34
Brain, Cerebellum, Spinal cord, Kidney, Bone, Heart, Breast

Animal Models for Dandy-Walker Syndrome or affiliated genes

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Publications for Dandy-Walker Syndrome

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Sources:
53PubMed
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Articles related to Dandy-Walker Syndrome:

(show top 50)    (show all 136)
idTitleAuthorsYear
1
Trigeminal neuralgia due to Dandy-Walker syndrome. (23851831)
2013
2
Low bispectral index values after treatment for seizures in Dandy-Walker syndrome. (19645988)
2009
3
Dandy-Walker syndrome together with occipital encephalocele. (18511899)
2008
4
Dandy-Walker syndrome, associated anomalies and survival through infancy: a population-based study. (18648217)
2008
5
Cerebrospinal fluid leak after immediate tissue expander breast reconstruction in a patient with Dandy-Walker syndrome. (18453959)
2008
6
Dandy-Walker syndrome and monochorionic twins: insight into a possible etiological mechanism. (18979394)
2008
7
Dandy-Walker syndrome in adult mimicking myasthenia gravis. (17420852)
2007
8
Endoscopic, single-catheter treatment of Dandy-Walker syndrome hydrocephalus: technical case report and review of treatment options. (16195680)
2005
9
Giant occipital meningocele as a presenting feature of Dandy-Walker syndrome. (15347883)
2004
10
A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. (12892171)
2003
11
Old age presentation of the Dandy-Walker syndrome associated with unilateral sudden sensorineural deafness and vertigo. (11827588)
2002
12
Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum. (11822087)
2001
13
Crocodile tears and Dandy-Walker syndrome in cervico-oculo-acoustic syndrome. (10505838)
1999
14
Dandy-Walker syndrome successfully treated with cystoperitoneal shunting--case report. (10598445)
1999
15
Seizures and the Dandy-Walker syndrome: a case of suspected pseudoseizures. (8711081)
1996
16
Anesthetic management of a neonate with Dandy-Walker syndrome. (23568125)
1994
17
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
18
The Dandy-Walker syndrome: the value of antenatal diagnosis. (1555367)
1992
19
Congenital hydrocephalus mimicking Dandy-Walker syndrome induced by 6-aminonicotinamide injection in pregnant rat. (1724296)
1991
20
The Dandy-Walker syndrome: diagnostic and surgical considerations. (1764229)
1991
21
The Dandy-Walker syndrome. Relevance to anaesthesia and intensive care. (2205120)
1990
22
CSF dynamics in Dandy-Walker syndrome. (2386089)
1990
23
Coexistence of Dandy-Walker syndrome and Down's syndrome. (2524010)
1989
24
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
25
Two cases of Dandy-Walker syndrome and chronic polyneuropathy. (2485913)
1989
26
Magnetic resonance imaging of an adult with the Dandy-Walker syndrome. (3249328)
1988
27
Antenatal diagnosis and obstetric management of Dandy-Walker syndrome. (3543341)
1986
28
Electrophysiological assessment of motor control in a case of Dandy-Walker syndrome. (4091060)
1985
29
Dandy-Walker syndrome diagnosed in utero. (6682509)
1983
30
Dandy-Walker syndrome without hydrocephalus in an adult. (6680029)
1983
31
Dandy-Walker syndrome: analysis of 21 cases. (7380119)
1980
32
The dysraphic state of the posterior fossa. Clinical review of the Dandy-Walker syndrome and the so-called arachnoid cysts. (536750)
1979
33
Problems of diagnosis and treatment in the Dandy-Walker syndrome. (446192)
1979
34
Failure of pyramidal tract decussation in the Dandy-Walker syndrome. Report of two cases. (422992)
1979
35
Adult onset of the Dandy-Walker syndrome. (697607)
1978
36
Parinaud's syndrome, false localising sign of pseudo-Dandy-Walker syndrome. (756328)
1978
37
Dandy-Walker syndrome: clinico-pathological features and re-evaluation of modes of treatment. (888088)
1977
38
An autopsy case of the Dandy-Walker syndrome. (1024679)
1976
39
Dandy-Walker syndrome associated with congenital heart defects: report of three cases. (1060596)
1975
40
The so-called Dandy-Walker syndrome: analysis of 12 operated cases. (1081031)
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

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Expression for genes affiliated with Dandy-Walker Syndrome

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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

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51PathCards, 31KEGG
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Pathways related to Dandy-Walker Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5CD40LG, CD79A

Compounds for genes affiliated with Dandy-Walker Syndrome

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Sources:
46Novoseek, 12DrugBank, 30IUPHAR, 52PharmGKB, 25HMDB
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Compounds related to Dandy-Walker Syndrome according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1sulfolipid i469.9CD40LG, CD79A
2sandoglobulin469.9CD40LG, CD79A
3gamma globulin469.9CD40LG, CD79A
4vancomycin46 1210.9CD40LG, CD79A
5pneumococcal469.9CD79A, CD40LG
6blys469.9CD40LG, CD79A
7tuberculin469.9CD40LG, CD79A
8praziquantel46 1210.9CD40LG, CD79A
9hemocyanin469.9CD79A, CD40LG
10gliadin469.9CD40LG, CD79A
11pmma469.9CD40LG, CD79A
12silicone469.9CD79A, CD40LG
13mannan469.8CD40LG, CD79A
14okt3469.8CD79A, CD40LG
15glutaraldehyde469.8CD40LG, CD79A
16sulfasalazine30 46 52 1212.8CD40LG, CD79A
17cardiolipin46 1210.8CD40LG, CD79A
18valproate469.8CD79A, CD40LG
19mycophenolate mofetil46 52 1211.8CD40LG, CD79A
20phenytoin46 52 30 1212.8CD40LG, CD79A
21cytidine46 25 1211.8CD40LG, CD79A
22anti-fungal469.8CD79A, CD40LG
23ivig469.7CD40LG, CD79A
24doxycycline46 1210.7CD40LG, CD79A
25vitamin b12469.7CD79A, CD40LG
26neopterin469.6CD40LG, CD79A
27allergens469.6CD40LG, CD79A
28rituximab46 52 1211.6CD79A, CD40LG
29carnitine469.5CD79A, CPT2
30theophylline46 30 25 1212.5CD40LG, CD79A
31biotin46 25 1211.5CD40LG, CD79A
32lactate469.4CD40LG, CD79A, CPT2
33creatinine469.3CD40LG, CD79A, CPT2
34polyethylene glycol469.2CD40LG, CD79A

GO Terms for genes affiliated with Dandy-Walker Syndrome

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17Gene Ontology
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Biological processes related to Dandy-Walker Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1B cell differentiationGO:0301839.5CD40LG, CD79A
2B cell proliferationGO:0421009.2CD40LG, CD79A

Products for genes affiliated with Dandy-Walker Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dandy-Walker Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet