MCID: DND001
MIFTS: 56

Dandy-Walker Syndrome malady

Neuronal diseases, Fetal diseases categories

Summaries for Dandy-Walker Syndrome

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21Genetics Home Reference, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 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 adult syndrome and hydrocephalus, and has symptoms including antenatal exposure : influenza, antenatal exposure : rubella and insterstitial/subtelomeric microdeletion/deletion. 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.

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

Description from OMIM:46 220200

Aliases & Classifications for Dandy-Walker Syndrome

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8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 60UMLS, 22GTR, 44Novoseek, 48Orphanet, 56SNOMED-CT, 34MeSH, 39NCIt, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
isolated dandy-walker malformation:
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

dandy-walker syndrome 8 9 21 43 46 10 60
dandy-walker malformation 21 44
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 48
luschka-magendie foramina atresia 21
dandy-walker deformity 21
dandy-walker complex 21
dandy-walker cyst 21
dandy walker cyst 60


External Ids:

Disease Ontology8 DOID:2785
OMIM46 220200
MeSH34 D003616
NCIt39 C75012
SNOMED-CT56 204063009, 14447001
SNOMED-CT via Orphanet57 14447001
ICD10 via Orphanet26 Q03.1
ICD1025 Q03.1

Related Diseases for Dandy-Walker Syndrome

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Sources:
17GeneCards, 18GeneDecks
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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 130)
idRelated DiseaseScoreTop Affiliating Genes
1adult syndrome10.6
2hydrocephalus10.6
3dandy-walker malformation with facial hemangioma10.6
4craniosynostosis - dandy-walker malformation - hydrocephalus10.6
5congenital non-communicating hydrocephalus10.6
6isolated dandy-walker malformation without hydrocephalus10.6
7isolated dandy-walker malformation with hydrocephalus10.6
8blake pouch cyst10.6
9meckel syndrome10.5
10dandy-walker malformation with mental retardation basal ganglia disease and seizures10.5
11dandy-walker malformation with postaxial polydactyly10.5
12meningocele10.5
13dandy-walker cyst with renal-hepatic-pancreatic dysplasia10.5
14cystic fibrosis10.4
15cerebritis10.4
16cystic kidney10.4
17dandy-walker malformation with sagittal craniosynostosis and hydrocephalus10.4
18intellectual deficit, x-linked - dandy-walker malformation - basal ganglia disease - seizures10.4
19facial dysmorphism - macrocephaly - myopia - dandy-walker malformation10.4
20meckel syndrome 710.4
21microcephaly10.3
22holoprosencephaly10.3
23basal ganglia disease10.3
24intellectual disability10.3
25leukodystrophy10.3
26x-linked disease10.3
27dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia10.3
28dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis10.3
29dandy-walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy10.3
30spinal muscular atrophy - dandy-walker malformation - cataracts10.3
31syringomyelia10.3
32arachnoiditis10.3
33image syndrome10.3
34dws-related dandy walker syndrome10.3
35rubinstein-taybi syndrome10.2
36spondylocostal dysostosis10.2
37meningeal melanocytoma10.2
38cleft lip10.2
39cleft palate10.2
40hepatitis a10.2
41dysostosis10.2
42hepatitis10.2
43meningitis10.2
44pancreatitis10.2
45albinism10.2
46peters plus syndrome10.2
47asphyxiating thoracic dystrophy10.2
48intracranial cavernous angioma10.2
49muscular atrophy10.2
50cataract10.2

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



Diseases related to dandy-walker syndrome

Clinical Features for Dandy-Walker Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

220200

Symptoms:

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

Drugs & Therapeutics for Dandy-Walker Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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:
22GTR
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Genetic tests related to Dandy-Walker Syndrome:

id Genetic test Affiliating Genes
1 Dandy-Walker Syndrome22

Anatomical Context for Dandy-Walker Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Dandy-Walker Syndrome:

32
Brain, Cerebellum, Spinal cord, Kidney, Tongue, Heart, Thyroid, Breast, Skin, Bone

Animal Models for Dandy-Walker Syndrome or affiliated genes

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Publications for Dandy-Walker Syndrome

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Sources:
50PubMed
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Articles related to Dandy-Walker Syndrome:

(show top 50)    (show all 178)
idTitleAuthorsYear
1
A case series of 12 patients with incidental asymptomatic Dandy-Walker syndrome and management. (22476659)
2012
2
Invalidating headaches as a symptom of pulmonary embolism in a Dandy-Walker syndrome with ventriculoatrial shunt. (21749565)
2011
3
Dandy-Walker malformation in Crouzon syndrome. (20413808)
2010
4
Racial disparities in mortality among infants with Dandy-Walker syndrome. (19476199)
2009
5
Dandy-Walker syndrome, associated anomalies and survival through infancy: a population-based study. (18648217)
2008
6
Surgical treatment of 13 pediatric patients with Dandy-Walker syndrome. (17785999)
2007
7
Dandy-Walker syndrome with postaxial polydactyly associated with facial dysmorphism and bone abnormalities. (16970046)
2006
8
Giant occipital meningocele as a presenting feature of Dandy-Walker syndrome. (15347883)
2004
9
A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. (12892171)
2003
10
Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant. (14581742)
2003
11
Dandy-Walker syndrome in association with neurofibromatosis in monozygotic twins. (11533827)
2000
12
Crocodile tears and Dandy-Walker syndrome in cervico-oculo-acoustic syndrome. (10505838)
1999
13
Dandy-Walker syndrome successfully treated with cystoperitoneal shunting--case report. (10598445)
1999
14
Dandy-Walker syndrome associated with occipital meningocele and spinal lipoma--case report. (10437385)
1999
15
Dandy-walker syndrome with epilepsy and psychosis : an atypical presentation. (21494468)
1998
16
Dandy-Walker malformation in the Meckel syndrome. (7702098)
1995
17
Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. (7625436)
1995
18
Relationship between cerebellar appearance and function in children with Dandy-Walker syndrome. (8555101)
1995
19
Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. (8368252)
1993
20
The Dandy-Walker syndrome: the value of antenatal diagnosis. (1555367)
1992
21
The Dandy-Walker syndrome: diagnostic and surgical considerations. (1764229)
1991
22
Occipital meningoceles in patients with the Dandy-Walker syndrome. (2067606)
1991
23
Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome? (1867280)
1991
24
Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? (1785635)
1991
25
Management of the Dandy-Walker syndrome. (2134009)
1990-1991
26
Dandy-Walker syndrome: posterior fossa craniectomy and cyst fenestration after several shunt revisions. (2257547)
1990
27
Dandy-Walker syndrome and agenesis of the cerebellar vermis: diagnostic problems and genetic counselling. (2185113)
1990
28
Coexistence of Dandy-Walker syndrome and Down's syndrome. (2524010)
1989
29
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
30
Dandy-Walker syndrome: a review of fifteen cases evaluated by prenatal sonography. (2669493)
1989
31
Dandy-Walker syndrome: experience at the Hospital for Sick Children, Toronto. (2635298)
1989
32
Dandy-Walker malformation in Ellis-van Creveld syndrome. (3223493)
1988
33
Adult manifestation of the Dandy-Walker syndrome. Report of two cases with review of the literature. (3561638)
1987
34
Neurocutaneous melanosis associated with Dandy-Walker syndrome. (3665294)
1987
35
Electrophysiological assessment of motor control in a case of Dandy-Walker syndrome. (4091060)
1985
36
Ante-and postnatal evaluation of the Dandy-Walker syndrome. (3899357)
1985
37
Dandy-Walker syndrome studied by computed tomography and pneumoencephalography. (6828713)
1983
38
Acute exacerbation of a Dandy-Walker syndrome caused by abscess formation within the cyst: a case report. (7137510)
1982
39
Rebound nystagmus. An adult with Dandy-Walker syndrome. (458218)
1979
40
Dandy-Walker syndrome: clinico-pathological features and re-evaluation of modes of treatment. (888088)
1977
41
Dandy-Walker syndrome associated with congenital heart defects: report of three cases. (1060596)
1975
42
Respiration in an infant with the Dandy-Walker syndrome. (4472854)
1974
43
Dandy-Walker syndrome: an evaluation of surgical treatment. (4743569)
1973
44
The Dandy-Walker syndrome. A clinicopathological study based on 28 cases. (4343429)
1972
45
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
46
Obstruction following posterior fossa surgery: the postoperative Dandy-Walker syndrome. (5301407)
1968
47
(THE DANDY-WALKER SYNDROME.) (14346526)
1965
48
CLINICAL PATHOLOGICAL CONFERENCE: THE DANDY-WALKER SYNDROME. (14105052)
1964
49
Cystic enlargement and obstruction of the fourth ventricle following posterior fossa surgery. The postoperative Dandy-Walker syndrome. (14497853)
1962
50
Congenital hydrocephalus with defective development of the cerebellar vermis (Dandy-Walker syndrome) clinical and anatomical findings in two cases with particular reference to the so-called atresia of the foramina of Magendie and Luschka. (13655097)
1959

Genetic Variations for Dandy-Walker Syndrome

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Expression for genes affiliated with Dandy-Walker Syndrome

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1BioGPS, 15Gene 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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Sources:
29KEGG
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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

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44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB
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Compounds related to Dandy-Walker Syndrome according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1sulfolipid i4410.0CD40LG, CD79A
2sandoglobulin4410.0CD40LG, CD79A
3gamma globulin4410.0CD40LG, CD79A
4vancomycin44 1111.0CD40LG, CD79A
5pneumococcal4410.0CD79A, CD40LG
6blys449.9CD40LG, CD79A
7tuberculin449.9CD79A, CD40LG
8praziquantel44 1110.9CD79A, CD40LG
9hemocyanin449.9CD40LG, CD79A
10gliadin449.9CD79A, CD40LG
11pmma449.8CD79A, CD40LG
12silicone449.8CD40LG, CD79A
13mannan449.8CD40LG, CD79A
14okt3449.7CD79A, CD40LG
15cardiolipin44 1110.7CD40LG, CD79A
16glutaraldehyde449.6CD40LG, CD79A
17sulfasalazine44 28 49 1112.4CD79A, CD40LG

GO Terms for genes affiliated with Dandy-Walker Syndrome

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16Gene Ontology
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Biological processes related to Dandy-Walker Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1B cell differentiationGO:0301839.7CD79A, CD40LG
2B cell proliferationGO:0421009.4CD79A, CD40LG

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet