MCID: DND001
MIFTS: 58

Dandy-Walker Syndrome malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories
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Summaries for Dandy-Walker Syndrome

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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 based summary: Dandy-Walker Syndrome, also known as dandy-walker malformation, is related to osteopetrosis and polyneuropathy, and has symptoms including prominent occiput/occipital bossing, basilary impression/invagination/cranio-spinal malformation/platybasia and dandy-walker anomaly. 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:65 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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Sources:
8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 62UMLS, 22GTR, 44Novoseek, 48Orphanet, 34MeSH, 57SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 25ICD10
See all sources

Dandy-Walker Syndrome, Aliases & Descriptions:

Name: Dandy-Walker Syndrome 8 9 21 43 46 10 62
Dandy-Walker Malformation 21 44 62
Luschka-Magendie Foramina Atresia 21 62
Dandy - Walker Syndrome 8 22
Dandy-Walker Deformity 21 62
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
Dandy-Walker Complex 21
Dandy-Walker Cyst 21
Dandy Walker Cyst 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:2785
MeSH34 D003616
OMIM46 220200
SNOMED-CT57 204063009, 14447001
NCIt39 C75012
ICD10 via Orphanet26 Q03.1
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/GeneDecks gene sharing:

(show top 50)    (show all 173)
idRelated DiseaseScoreTop Affiliating Genes
1osteopetrosis30.7MIR4315-1, MIR4315-2
2polyneuropathy30.2CD40LG, CD79A
3dandy-walker malformation with intellectual disability, basal ganglia disease and seizures10.7
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
12dandy-walker cyst with renal-hepatic-pancreatic dysplasia10.6
13meningocele10.5
14agenesis of the corpus callosum10.5
15cleft palate10.5
16meckel syndrome10.5
17cerebritis10.5
18dandy-walker malformation with sagittal craniosynostosis and hydrocephalus10.5
19facial dysmorphism - macrocephaly - myopia - dandy-walker malformation10.5
20meckel syndrome 710.4
21holoprosencephaly10.4
22microcephaly10.4
23basal ganglia disease10.4
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
31q fever10.4CD79A
32syringomyelia10.4
33encephalocele10.4
34neurocutaneous melanosis10.4
35dws-related dandy walker syndrome10.4
36syphilis10.4CD79A
37macroglobulinemia10.4CD79A
38cryptosporidiosis10.3CD79A
39juvenile xanthogranuloma10.3MIR4315-1, MIR4315-2
40hepatitis10.3
41rubinstein-taybi syndrome10.3
42meningeal melanocytoma10.3
43cleft lip10.3
44spondylocostal dysostosis10.3
45dysostosis10.3
46meningitis10.3
47pancreatitis10.3
48albinism10.3
49peters plus syndrome10.3
50albinism immunodeficiency10.3

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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Clinical features from OMIM:

220200

Symptoms:

48 (show all 16)
  • prominent occiput/occipital bossing
  • 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
  • x-linked recessive inheritance
  • insterstitial/subtelomeric microdeletion/deletion
  • antenatal exposure : rubella
  • antenatal exposure : influenza

HPO human phenotypes related to Dandy-Walker Syndrome:

(show all 9)
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

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:

32
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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Articles related to Dandy-Walker Syndrome:

(show top 50)    (show all 138)
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
Problems of diagnosis and treatment in the Dandy-Walker syndrome. (446192)
1979
33
Failure of pyramidal tract decussation in the Dandy-Walker syndrome. Report of two cases. (422992)
1979
34
Adult onset of the Dandy-Walker syndrome. (697607)
1978
35
Parinaud's syndrome, false localising sign of pseudo-Dandy-Walker syndrome. (756328)
1978
36
Dandy-Walker syndrome: clinico-pathological features and re-evaluation of modes of treatment. (888088)
1977
37
An autopsy case of the Dandy-Walker syndrome. (1024679)
1976
38
Dandy-Walker syndrome associated with congenital heart defects: report of three cases. (1060596)
1975
39
The so-called Dandy-Walker syndrome: analysis of 12 operated cases. (1081031)
1975
40
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
41
The Dandy-Walker syndrome associated with syringomyelia in a newborn infant. (5550205)
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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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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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:
44Novoseek, 11DrugBank, 28IUPHAR, 50PharmGKB, 24HMDB
See all sources

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

(show all 34)
idCompoundScoreTop Affiliating Genes
1sulfolipid i449.9CD40LG, CD79A
2sandoglobulin449.9CD40LG, CD79A
3gamma globulin449.9CD40LG, CD79A
4vancomycin44 1110.9CD40LG, CD79A
5pneumococcal449.9CD79A, CD40LG
6blys449.9CD40LG, CD79A
7tuberculin449.9CD40LG, CD79A
8praziquantel44 1110.9CD40LG, CD79A
9hemocyanin449.9CD79A, CD40LG
10gliadin449.9CD40LG, CD79A
11pmma449.9CD40LG, CD79A
12silicone449.9CD79A, CD40LG
13mannan449.8CD40LG, CD79A
14okt3449.8CD79A, CD40LG
15glutaraldehyde449.8CD40LG, CD79A
16sulfasalazine28 44 50 1112.8CD40LG, CD79A
17cardiolipin44 1110.8CD40LG, CD79A
18valproate449.8CD79A, CD40LG
19mycophenolate mofetil44 50 1111.8CD40LG, CD79A
20phenytoin44 50 28 1112.8CD40LG, CD79A
21cytidine44 24 1111.8CD40LG, CD79A
22anti-fungal449.8CD79A, CD40LG
23ivig449.7CD40LG, CD79A
24doxycycline44 1110.7CD40LG, CD79A
25vitamin b12449.7CD79A, CD40LG
26neopterin449.6CD40LG, CD79A
27allergens449.6CD40LG, CD79A
28rituximab44 50 1111.6CD79A, CD40LG
29carnitine449.5CD79A, CPT2
30theophylline44 28 24 1112.5CD40LG, CD79A
31biotin44 24 1111.5CD40LG, CD79A
32lactate449.4CD40LG, CD79A, CPT2
33creatinine449.3CD40LG, CD79A, CPT2
34polyethylene glycol449.2CD40LG, CD79A

GO Terms for genes affiliated with Dandy-Walker Syndrome

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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet