MCID: DND001
MIFTS: 40

Dandy-Walker Syndrome malady

Categories: Genetic diseases (common), Neuronal diseases

Aliases & Classifications for Dandy-Walker Syndrome

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Aliases & Descriptions for Dandy-Walker Syndrome:

Name: Dandy-Walker Syndrome 49 10 11 22 23 46 12 36 65
Dandy-Walker Malformation 22 23 47
Dwm 22 23
Hydrocephalus, Noncommunicating, Dandy-Walker Type 23
Atresia of Foramina of Magendie and Luschka 10
Hydrocephalus, Internal, Dandy-Walker Type 23
Luschka-Magendie Foramina Atresia 23
 
Dandy-Walker Deformity 23
Dandy Walker Variant 65
Dandy-Walker Variant 24
Dandy-Walker Complex 23
Dandy-Walker Cyst 23
Dws 23

Characteristics:

HPO:

61
dandy-walker syndrome:
Inheritance: heterogeneous


Classifications:



External Ids:

OMIM49 220200
Disease Ontology10 DOID:2785
ICD1027 Q03.1
SNOMED-CT59 14447001, 204063009
MeSH36 D003616
NCIt42 C75012
UMLS65 C0010964, C2931015

Summaries for Dandy-Walker Syndrome

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NINDS:46 Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back of the brain that coordinates 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 and pressure of the fluid spaces surrounding the brain (hydrocephalus) may also be present. The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure (pressure within the skull) such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, abnormal breathing problems, and problems with the nerves that control the eyes, face and neck. Dandy-Walker Syndrome is sometimes associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes.

MalaCards based summary: Dandy-Walker Syndrome, also known as dandy-walker malformation, is related to dandy-walker malformation with intellectual disability, basal ganglia disease and seizures and dandy-walker malformation with postaxial polydactyly, and has symptoms including abnormality of the vertebrae, dandy-walker malformation and prominent occiput. An important gene associated with Dandy-Walker Syndrome is DWS (Dandy-Walker Syndrome). Affiliated tissues include brain, cerebellum and heart.

Genetics Home Reference:23 Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. 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 (the vermis) is absent or very small and may be abnormally positioned. The right and left sides of the cerebellum may be small as well. In affected individuals, a fluid-filled cavity between the brainstem and the cerebellum (the fourth ventricle) and the part of the skull that contains the cerebellum and the brainstem (the posterior fossa) are abnormally large. These abnormalities often result in problems with movement, coordination, intellect, mood, and other neurological functions.

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

Wikipedia:68 Dandy–Walker syndrome (DWS) is a congenital human brain malformation involving the cerebellum and the... more...

Related Diseases for Dandy-Walker Syndrome

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

(show top 50)    (show all 147)
idRelated DiseaseScoreTop Affiliating Genes
1dandy-walker malformation with intellectual disability, basal ganglia disease and seizures12.8
2dandy-walker malformation with postaxial polydactyly12.8
3meckel syndrome 711.9
4nphp3-related meckel-like syndrome11.9
5dandy-walker complex11.7
6dandy-walker malformation with facial hemangioma10.8
7isolated dandy-walker malformation10.8
8congenital hydrocephalus10.8
9congenital non-communicating hydrocephalus10.8
10isolated dandy-walker malformation without hydrocephalus10.8
11isolated dandy-walker malformation with hydrocephalus10.8
12blake pouch cyst10.8
13hepatocellular carcinoma10.6
14melanoma10.6
15choriocarcinoma10.6
16neuroblastoma10.5
17breast cancer10.5
18obesity10.5
19alport syndrome10.5
20hepatitis10.5
21hepatitis b10.5
22gastroschisis10.5
23sarcoma10.5
24gestational choriocarcinoma10.5
25tuberculosis10.5
26rheumatoid arthritis10.3
27colorectal cancer10.3
28fucosidosis10.3
29myocardial infarction10.3
30systemic lupus erythematosus10.3
31lung cancer10.3
32hiv-110.3
33leprosy10.3
34beckwith-wiedemann syndrome10.3
35cystic fibrosis10.3
36acrodermatitis enteropathica10.3
37anorexia nervosa10.3
38aspergillosis10.3
39meconium ileus10.3
40insulin-like growth factor i10.3
41peutz-jeghers syndrome10.3
42pseudoachondroplasia10.3
43digeorge syndrome10.3
44acute myocardial infarction10.3
45arthritis10.3
46crohn's disease10.3
47ectodermal dysplasia10.3
48gastric cancer10.3
49hydrocephalus10.3
50islet cell tumor10.3

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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Symptoms by clinical synopsis from OMIM:

220200

Clinical features from OMIM:

220200

HPO human phenotypes related to Dandy-Walker Syndrome:

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

Drugs & Therapeutics for Dandy-Walker Syndrome

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Drugs for Dandy-Walker Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver Extracts3572

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

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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:

33
Brain, Cerebellum, Heart, Spinal cord, Eye, Bone, Endothelial

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 148)
idTitleAuthorsYear
1
SUMOylation regulates polo-like kinase 1-interacting checkpoint helicase (PICH) during mitosis. (25564610)
2015
2
Ultrasonographic Measurement of the Femoral Cartilage Thickness in Patients with BehAset's Disease. (25867580)
2015
3
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients. (26510092)
2015
4
aPKC alters the TGFI^ response in NSCLC cells through both Smad-dependent and Smad-independent pathways. (25501807)
2015
5
Association between busulfan exposure and outcome in children receiving intravenous busulfan before hematopoietic stem cell transplantation. (24061446)
2014
6
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. (24461907)
2014
7
Application of a novel grey self-memory coupling model to forecast the incidence rates of two notifiable diseases in China: dysentery and gonorrhea. (25546054)
2014
8
Brain-derived neurotrophic factor blood levels in two models of transient brain ischemia in rats. (23531843)
2013
9
Metachronous, multicentric glioma of pilocytic astrocytoma with oligodendroglioma-like component and oligodendroglioma through distinct genetic aberrations. (23082883)
2013
10
Antibiotics for otitis media with effusion in children. (23418968)
2013
11
Morphological and biomechanical remodeling of the hepatic portal vein in a swine model of portal hypertension. (22192237)
2012
12
Sensitive detection of idiotypic platelet-reactive alloantibodies by an electrical protein chip. (22572157)
2012
13
Genomic characterization of H1N2 swine influenza viruses in Italy. (22112856)
2012
14
Gene expression profiling in dermatitis herpetiformis skin lesions. (22991566)
2012
15
HIV-2 A-subtype gp125ca88-va88-ca88 mutations and their association with CCR5 and CXCR4 tropism. (21814863)
2011
16
Neonatal and neurodevelopmental outcomes of very low birth weight infants with histologic chorioamnionitis. (20961565)
2011
17
Linking coordinative and executive dysfunctions to atrophy in spinocerebellar ataxia 2 patients. (21461742)
2011
18
Multiple calcified primary central nervous system lymphoma with immunodeficiency in a child. (21633850)
2011
19
JAK1 activates STAT3 activity in non-small-cell lung cancer cells and IL-6 neutralizing antibodies can suppress JAK1-STAT3 signaling. (21216930)
2011
20
Evaluation of survivin as a prognostic marker in oral squamous cell carcinoma. (20050981)
2010
21
TGFBR2 gene expression and genetic association with schizophrenia. (17560608)
2008
22
Rip11 is a Rab11- and AS160-RabGAP-binding protein required for insulin-stimulated glucose uptake in adipocytes. (18003705)
2007
23
Class I and class II major histocompatibility complex genes in Mexican patients with actinic prurigo. (17355228)
2007
24
Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD). (16767405)
2006
25
Mechanisms of haem and non-haem iron absorption: lessons from inherited disorders of iron metabolism. (16158226)
2005
26
Fresh osteochondral grafting in the treatment of osteochondritis dissecans of the talus. (12741584)
2002
27
Somatostatin inhibits the production of vascular endothelial growth factor in human glioma cells. (11304689)
2001
28
Phosphorylation sites of protein kinase C delta in H2O2-treated cells and its activation by tyrosine kinase in vitro. (11381116)
2001
29
Expression of telomerase subunits and its relationship with telomerase activity in nasopharyngeal carcinoma]. (11809122)
2001
30
Hereditary vascular dementia linked to notch 3 mutations. CADASIL in British families. (10818518)
2000
31
High-expression of sphingomyelin deacylase is an important determinant of ceramide deficiency leading to barrier disruption in atopic dermatitis. (10951276)
2000
32
A profile of differentially expressed genes in primary colorectal cancer using suppression subtractive hybridization. (10601642)
1999
33
PETA-3/CD151, a member of the transmembrane 4 superfamily, is localised to the plasma membrane and endocytic system of endothelial cells, associates with multiple integrins and modulates cell function. (10036233)
1999
34
Mechanism of Nef-induced CD4 endocytosis: Nef connects CD4 with the mu chain of adaptor complexes. (9564030)
1998
35
Cell surface activation of progelatinase A (proMMP-2) and cell migration. (9791731)
1998
36
Induction of brain tumors in mice using a recombinant platelet-derived growth factor B-chain retrovirus. (9850047)
1998
37
Dose-dependent mobilisation of haematopoietic progenitor cells in healthy volunteers receiving glycosylated rHuG-CSF. (8831991)
1996
38
Increased antibody titers against mycobacterial heat-shock protein 65 in patients with vasculitis and arteriosclerosis. (8645986)
1996
39
IL-4 protects cells from apoptosis via the insulin receptor substrate pathway and a second independent signaling pathway. (8943397)
1996
40
Improved skin blood flow and cutaneous temperature in the foot of a patient with arteriosclerosis obliterans by vasopressin V1 antagonist (OPC21268). A case report. (7486224)
1995
41
Ambulatory hydrocele surgery: a review of 50 cases. (1491371)
1992
42
The acetylcholinesterase gene of Anopheles stephensi. (1901515)
1991
43
Proteinase inhibition, immunoglobulin-binding proteins and a novel antimicrobial principle. (1962837)
1990
44
Intrauterine herpes simplex virus infection. Hydranencephaly and a nonvesicular rash in an infant. (2767839)
1989
45
Dilated cardiomyopathy complicating a case of epidermolysis bullosa dystrophica. (2704658)
1989
46
Hypopyon--an early sign of leukaemic relapse. (6934371)
1980
47
Hearing impairment in meningococcal meningitis. (462127)
1979
48
Acute myelomonocytic leukemia associated with paraproteinemia. (816450)
1976
49
Chest pain in the carcinoid syndrome. (4193351)
1970
50
On pityriasis lichenoides chronica and prurigo chronica nodularis]. (13083062)
1953

Variations for Dandy-Walker Syndrome

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Clinvar genetic disease variations for Dandy-Walker Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DPH1NM_001383.3(DPH1): c.701T> C (p.Leu234Pro)single nucleotide variantLikely pathogenic, Pathogenicrs730882250GRCh37Chr 17, 1943054: 1943054

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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GO Terms for genes affiliated with Dandy-Walker Syndrome

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Sources for Dandy-Walker Syndrome

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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