MCID: DND001
MIFTS: 48

Dandy-Walker Syndrome malady

Genetic diseases (common), Neuronal diseases categories

Summaries for Dandy-Walker Syndrome

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NINDS:42 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 dandy-walker malformation, is related to osteopetrosis and polyneuropathy, and has symptoms including hydrocephalus, nystagmus and elevated imprint of the transverse sinuses. 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.

OMIM:45 Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of... (220200) more...

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

Aliases & Classifications for Dandy-Walker Syndrome

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Dandy-Walker Syndrome, Aliases & Descriptions:

Name: Dandy-Walker Syndrome 45 9 10 21 42 11 60
Dandy-Walker Malformation 21 43
Hydrocephalus, Noncommunicating, Dandy-Walker Type 21
Atresia of Foramina of Magendie and Luschka 9
Hydrocephalus, Internal, Dandy-Walker Type 21
Atresia of Foramina of Magendie + Luschka 9
Luschka-Magendie Foramina Atresia 21
 
Dandy - Walker Syndrome 9
Dandy-Walker Deformity 21
Dandy-Walker Complex 21
Dandy-Walker Variant 22
Dandy Walker Variant 60
Dandy-Walker Cyst 21
Dandy Walker Cyst 60


Classifications:

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


External Ids:

OMIM45 220200
Disease Ontology9 DOID:2785
NCIt38 C75012
SNOMED-CT55 204063009, 14447001
MeSH33 D003616
ICD1025 Q03.1

Related Diseases for Dandy-Walker Syndrome

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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 Suite gene sharing:

(show top 50)    (show all 220)
idRelated DiseaseScoreTop Affiliating Genes
1osteopetrosis30.7MIR4315-1, MIR4315-2
2polyneuropathy30.2CD40LG, CD79A
3thrombocytopenia29.9CD79A, CD40LG
4dandy-walker malformation with intellectual disability, basal ganglia disease and seizures10.7
5dandy-walker malformation with postaxial polydactyly10.7
6neuronopathy, distal hereditary motor, type vi10.6
7dandy-walker malformation with facial hemangioma10.6
8congenital non-communicating hydrocephalus10.6
9isolated dandy-walker malformation without hydrocephalus10.6
10isolated dandy-walker malformation with hydrocephalus10.6
11hydrocephalus10.6
12mental retardation, x-linked syndromic 510.5
13dandy-walker malformation with sagittal craniosynostosis and hydrocephalus10.5
14craniosynostosis - dandy-walker malformation - hydrocephalus10.5
15facial dysmorphism - macrocephaly - myopia - dandy-walker malformation10.5
16meningocele10.5
17agenesis of the corpus callosum10.5
18meckel syndrome 710.5
19ritscher-schinzel syndrome10.5
20holoprosencephaly10.5
21cerebritis10.5
22dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis10.5
23dandy-walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy10.5
24dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia10.5
25spinal muscular atrophy - dandy-walker malformation - cataracts10.5
26dws-related dandy walker syndrome10.4
27nphp3-related meckel-like syndrome10.4
28ellis-van creveld syndrome10.4
29coffin-siris syndrome10.4
30acrocallosal syndrome10.4
31marden-walker syndrome10.4
32bohring-opitz syndrome10.4
33aicardi syndrome10.4
34plasminogen deficiency, type i10.4
35hydrolethalus syndrome10.4
36neurocutaneous melanosis, somatic10.4
37neu-laxova syndrome110.4
38meckel syndrome 110.4
39microcephaly10.4
40walker-warburg syndrome10.4
41basal ganglia disease10.4
42leukodystrophy10.4
43aase-smith syndrome10.4
44kid syndrome10.4
45oculocerebral syndrome with hypopigmentation10.4
46oculocerebrocutaneous syndrome10.4
47mental retardation10.4
48q fever10.4CD79A
49syringomyelia10.4
50arachnoiditis10.4

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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Symptoms by clinical synopsis from OMIM:

220200

Clinical features from OMIM:

220200

HPO human phenotypes related to Dandy-Walker Syndrome:

(show all 11)
id Description Frequency HPO Source Accession
1 hydrocephalus HP:0000238
2 nystagmus HP:0000639
3 elevated imprint of the transverse sinuses HP:0000930
4 thinning and bulging of the posterior fossa bones HP:0000931
5 posterior fossa cyst at the fourth ventricle HP:0000933
6 heterogeneous HP:0001425
7 truncal ataxia HP:0002078
8 dilated fourth ventricle HP:0002198
9 agenesis of cerebellar vermis HP:0002335
10 partial absence of cerebellar vermis HP:0002951
11 cranial nerve paralysis HP:0006824

Drugs & Therapeutics for Dandy-Walker Syndrome

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Drug clinical trials:

Search ClinicalTrials for Dandy-Walker Syndrome

Search NIH Clinical Center for Dandy-Walker Syndrome

Genetic Tests for Dandy-Walker Syndrome

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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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MalaCards organs/tissues related to Dandy-Walker Syndrome:

31
Brain, Cerebellum, Spinal cord, 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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Articles related to Dandy-Walker Syndrome:

(show top 50)    (show all 145)
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 together with occipital encephalocele. (18511899)
2008
6
Dandy-Walker syndrome, associated anomalies and survival through infancy: a population-based study. (18648217)
2008
7
Cerebrospinal fluid leak after immediate tissue expander breast reconstruction in a patient with Dandy-Walker syndrome. (18453959)
2008
8
Dandy-Walker syndrome and monochorionic twins: insight into a possible etiological mechanism. (18979394)
2008
9
Dandy-Walker syndrome in adult mimicking myasthenia gravis. (17420852)
2007
10
Endoscopic, single-catheter treatment of Dandy-Walker syndrome hydrocephalus: technical case report and review of treatment options. (16195680)
2005
11
Giant occipital meningocele as a presenting feature of Dandy-Walker syndrome. (15347883)
2004
12
A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. (12892171)
2003
13
Old age presentation of the Dandy-Walker syndrome associated with unilateral sudden sensorineural deafness and vertigo. (11827588)
2002
14
Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum. (11822087)
2001
15
Crocodile tears and Dandy-Walker syndrome in cervico-oculo-acoustic syndrome. (10505838)
1999
16
Dandy-Walker syndrome successfully treated with cystoperitoneal shunting--case report. (10598445)
1999
17
Seizures and the Dandy-Walker syndrome: a case of suspected pseudoseizures. (8711081)
1996
18
Anesthetic management of a neonate with Dandy-Walker syndrome. (23568125)
1994
19
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
20
The Dandy-Walker syndrome: the value of antenatal diagnosis. (1555367)
1992
21
Congenital hydrocephalus mimicking Dandy-Walker syndrome induced by 6-aminonicotinamide injection in pregnant rat. (1724296)
1991
22
The Dandy-Walker syndrome: diagnostic and surgical considerations. (1764229)
1991
23
The Dandy-Walker syndrome. Relevance to anaesthesia and intensive care. (2205120)
1990
24
CSF dynamics in Dandy-Walker syndrome. (2386089)
1990
25
Coexistence of Dandy-Walker syndrome and Down's syndrome. (2524010)
1989
26
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
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

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Expression for genes affiliated with Dandy-Walker Syndrome

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

Pathways for genes affiliated with Dandy-Walker Syndrome

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

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

Compounds for genes affiliated with Dandy-Walker Syndrome

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Sources:
43Novoseek, 12DrugBank, 28IUPHAR, 49PharmGKB, 24HMDB
See all sources

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

(show all 34)
idCompoundScoreTop Affiliating Genes
1sulfolipid i439.9CD40LG, CD79A
2sandoglobulin439.9CD40LG, CD79A
3gamma globulin439.9CD40LG, CD79A
4vancomycin43 1210.9CD40LG, CD79A
5pneumococcal439.9CD79A, CD40LG
6blys439.9CD40LG, CD79A
7tuberculin439.9CD40LG, CD79A
8praziquantel43 1210.9CD40LG, CD79A
9hemocyanin439.9CD79A, CD40LG
10gliadin439.9CD40LG, CD79A
11pmma439.9CD40LG, CD79A
12silicone439.9CD79A, CD40LG
13mannan439.8CD40LG, CD79A
14okt3439.8CD79A, CD40LG
15glutaraldehyde439.8CD40LG, CD79A
16sulfasalazine28 43 49 1212.8CD40LG, CD79A
17cardiolipin43 1210.8CD40LG, CD79A
18valproate439.8CD79A, CD40LG
19mycophenolate mofetil43 49 1211.8CD40LG, CD79A
20phenytoin43 49 28 1212.8CD40LG, CD79A
21cytidine43 24 1211.8CD40LG, CD79A
22anti-fungal439.8CD79A, CD40LG
23ivig439.7CD40LG, CD79A
24doxycycline43 1210.7CD40LG, CD79A
25vitamin b12439.7CD79A, CD40LG
26neopterin439.6CD40LG, CD79A
27allergens439.6CD40LG, CD79A
28rituximab43 49 1211.6CD79A, CD40LG
29carnitine439.5CD79A, CPT2
30theophylline43 28 24 1212.5CD40LG, CD79A
31biotin43 24 1211.5CD40LG, CD79A
32lactate439.4CD40LG, CD79A, CPT2
33creatinine439.3CD40LG, CD79A, CPT2
34polyethylene glycol439.2CD40LG, CD79A

GO Terms for genes affiliated with Dandy-Walker Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1B cell differentiationGO:00301839.5CD40LG, CD79A
2B cell proliferationGO:00421009.2CD40LG, CD79A

Products for genes affiliated with Dandy-Walker Syndrome

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Sources for Dandy-Walker Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet