MCID: DND005
MIFTS: 35

Dandy-Walker Complex

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Dandy-Walker Complex

MalaCards integrated aliases for Dandy-Walker Complex:

Name: Dandy-Walker Complex 53 25
Dandy-Walker Malformation 25 55 6
Dandy-Walker Syndrome 25 73
Hydrocephalus, Noncommunicating, Dandy-Walker Type 25
Hydrocephalus, Internal, Dandy-Walker Type 25
Dandy-Walker Syndrome or Malformation 53
Luschka-Magendie Foramina Atresia 25
Dandy-Walker Deformity 25
Syndrome, Dandy-Walker 40
Dandy-Walker Variant 53
Dandy Walker Variant 73
Mega Cisterna Magna 53
Mega-Cisterna Magna 59
Dandy-Walker Cyst 25
Dandy Walker Cyst 73
Dw Complex 53
Dws 25
Dwm 25

Classifications:



External Ids:

Orphanet 59 ORPHA97252
UMLS via Orphanet 74 C3164501
ICD10 via Orphanet 34 Q07.8

Summaries for Dandy-Walker Complex

NIH Rare Diseases : 53 Dandy-Walker complex is a group of disorders that affect the development of the brain. The changes in brain development are present from birth (congenital). Dandy-Walker complex affects the formation of the area of the brain known as the cerebellum, which is responsible for coordinating movement, and the fluid-filled spaces around it. People with Dandy-Walker complex may have a portion of the brain called the cerebellar vermis that is smaller than expected (hypoplastic) or completely absent (aplastic). The cerebellar vermis is the area of the brain between the two halves of the cerebellum.  People with Dandy-Walker complex have a larger than expected fourth ventricle of the brain. This ventricle allows fluid to flow between the upper and lower areas of the brain and spinal cord. People with Dandy-Walker complex may have an enlarged portion of the base of the skull (posterior fossa). Dandy-Walker complex may be more common in females than in males. Dandy-Walker complex is a group of disorders that have overlapping symptoms. These disorders include:Dandy-Walker malformation (also known as Dandy-Walker syndrome): having a small cerebellar vermis, large fourth ventricle, and enlarged posterior fossa Isolated cerebellar vermis hypoplasia (sometimes known as Dandy-Walker variant): having a small cerebellar vermis without other features of Dandy-Walker complex Mega-cisterna magna: having an enlarged posterior fossa with a typically developed cerebellum. This may be a normal variant and may not cause any health problems. Posterior fossa arachnoid cyst: the development of a cyst on the posterior fossa without any other features of Dandy-Walker complex Each of these disorders can have separate causes and different long-term outlooks. In order to provide families with more information about the specific developmental differences in the brain and the long-term outlook, a person with Dandy-Walker complex may be given a more specific diagnosis. In some cases, Dandy-Walker complex is caused by an underlying genetic change. These genetic changes may cause Dandy-Walker complex alone, or they may cause Dandy-Walker complex as well as other health problems. In these situations, the complex can run in families. However, in most situations, Dandy-Walker complex is caused by a combination of genetic and environmental factors. Dandy-Walker complex can be diagnosed by imaging of the brain such as ultrasound, CT scan, or MRI scan. Treatment options may include a surgery to place a ventriculoperitoneal shunt that relieves excess fluid from the brain, as well as physical and occupational therapies.

MalaCards based summary : Dandy-Walker Complex, also known as dandy-walker malformation, is related to dandy-walker syndrome and hydrocephalus, and has symptoms including cerebellar ataxia and ataxia, truncal. An important gene associated with Dandy-Walker Complex is KIAA1109 (KIAA1109). The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 25 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.

Related Diseases for Dandy-Walker Complex

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 dandy-walker syndrome 31.3 DPH1 KIAA1109
2 hydrocephalus 27.9 DPH1 KIAA1109 NES
3 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.8
4 dandy-walker malformation with postaxial polydactyly 12.7
5 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 12.6
6 pettigrew syndrome 12.4
7 dandy-walker malformation with occipital cephalocele, autosomal dominant 12.4
8 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy 12.3
9 dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia 12.3
10 isolated dandy-walker malformation without hydrocephalus 12.3
11 isolated dandy-walker malformation with hydrocephalus 12.3
12 spinal muscular atrophy-dandy-walker malformation-cataracts syndrome 12.3
13 meckel syndrome, type 7 11.7
14 nova syndrome 11.5
15 oculo-cerebral dysplasia 11.2
16 ritscher-schinzel syndrome 1 11.2
17 melanosis, neurocutaneous 10.4
18 hereditary nodular heterotopia 10.3
19 meningocele 10.1
20 aplasia cutis congenita, nonsyndromic 10.1
21 klippel-trenaunay-weber syndrome 10.1
22 wilms tumor 5 10.1
23 choanal atresia, posterior 10.1
24 wilms tumor 6 10.1
25 cleft lip 10.1
26 syringomyelia 10.1
27 hirschsprung disease 1 10.0
28 peters-plus syndrome 10.0
29 chromosome 16p13.3 deletion syndrome, proximal 10.0
30 polydactyly 10.0
31 cataract 10.0
32 spinal muscular atrophy 10.0
33 asphyxiating thoracic dystrophy 10.0
34 molybdenum cofactor deficiency 10.0
35 choroiditis 10.0
36 melanoma 10.0
37 intracranial cavernous angioma 10.0
38 muscular atrophy 10.0
39 encephalocele 10.0
40 hemimegalencephaly 10.0
41 megalencephaly 10.0
42 coffin-siris syndrome 1 9.9
43 moebius syndrome 9.9
44 menkes disease 9.9

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



Diseases related to Dandy-Walker Complex

Symptoms & Phenotypes for Dandy-Walker Complex

UMLS symptoms related to Dandy-Walker Complex:


cerebellar ataxia, ataxia, truncal

GenomeRNAi Phenotypes related to Dandy-Walker Complex according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.47 NES
2 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.47 ZNF124
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.47 NES
4 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.47 ZNF124
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.47 NES
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.47 NES
7 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.47 ZNF124
8 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.47 NES
9 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.47 ZNF124
10 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.47 ZNF124 NES
11 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.47 NES
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.47 ZNF124
13 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.47 ZNF124

Drugs & Therapeutics for Dandy-Walker Complex

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Detection and Quantification of Neonatal Intraventricular Hemorrhage Completed NCT01899651
2 Brain Development Research Program Recruiting NCT00305305
3 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

Search NIH Clinical Center for Dandy-Walker Complex

Genetic Tests for Dandy-Walker Complex

Anatomical Context for Dandy-Walker Complex

MalaCards organs/tissues related to Dandy-Walker Complex:

41
Brain, Cerebellum, Spinal Cord, Liver, Kidney, Tongue, Skin

Publications for Dandy-Walker Complex

Articles related to Dandy-Walker Complex:

(show top 50) (show all 138)
# Title Authors Year
1
Dandy-Walker malformation and syringomyelia: a rare association. ( 29532167 )
2018
2
Intradiploic Cerebrospinal Fluid Cyst Following Occipital Encephalocele Surgery in a Patient with Dandy-Walker Malformation. ( 29890274 )
2018
3
Anatomic variants in Dandy-Walker complex. ( 29250689 )
2017
4
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation. ( 28761539 )
2017
5
EP01.04: V-mode and B-mode in differential diagnosis among hydrocephalic persistent Blake's pouch, non-HDC persistent Blake's pouch and Dandy-Walker complex. ( 27645624 )
2016
6
Syringomyelia caused by an arachnoid web in a patient with shunted Dandy-Walker malformation. ( 27822765 )
2016
7
Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome. ( 27506516 )
2016
8
De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome. ( 28503614 )
2016
9
Dandy-Walker Malformation and Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episode Syndrome: Is There a Causal or Coincidental Association? ( 26905003 )
2016
10
Appearance of the fetal posterior fossa at 11-14 weeks in foetuses with Dandy-Walker complex or chromosomal anomalies. ( 25914043 )
2015
11
Treatment-resistant mania in Dandy-Walker malformation with seizure disorder: A case report. ( 26962361 )
2015
12
Neurocutaneous melanosis in association with dandy-walker complex with extensive intracerebral and spinal cord involvement. ( 25289129 )
2014
13
Joubert syndrome overlapping with Dandy-Walker malformation. ( 24783660 )
2014
14
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions. ( 23679990 )
2013
15
Ultrasound diagnosis of central nervous system anomalies (bifid choroid plexus, ventriculomegaly, Dandy-Walker malformation) associated with multicystic dysplastic kidney disease in a trisomy 9 fetus: case report with literature review. ( 23055272 )
2013
16
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. ( 23674478 )
2013
17
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). ( 23756445 )
2013
18
A Newborn With Neurocutaneous Melanocytosis and Dandy-Walker Malformation. ( 24321541 )
2013
19
Dandy-Walker malformation and neurocutaneous melanosis in a three-month-old infant. ( 27493376 )
2013
20
Changes in a cerebellar peduncle lesion in a patient with Dandy-Walker malformation: A diffusion tensor imaging study. ( 25206690 )
2013
21
Endoscopic third ventriculostomy with/without choroid plexus cauterization for hydrocephalus due to hemorrhage, infection, Dandy-Walker malformation, and neural tube defect: a meta-analysis. ( 24374638 )
2013
22
Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3. ( 24039006 )
2013
23
Dandy-Walker Malformation, Papillary Thyroid Carcinoma, and SDHD-Associated Paraganglioma Syndrome. ( 24152682 )
2013
24
Psychosis and Dandy-Walker complex: report of four cases. ( 21983277 )
2012
25
Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counselling. ( 22418964 )
2012
26
Prenatal MR imaging of Dandy-Walker complex: midline sagittal area analysis. ( 21146946 )
2012
27
Prenatal diagnosis of mosaic ring chromosome 15 with abnormal maternal serum Down syndrome screening and Dandy-Walker malformation. ( 22482980 )
2012
28
Prenatal diagnosis and molecular characterization of a novel locus for Dandy-Walker malformation on chromosome 7p21.3. ( 22617776 )
2012
29
Neurocutaneous melanosis associated with Dandy-Walker complex and an intracranial cavernous angioma. ( 22134415 )
2012
30
Ataxia, hypoplastic vermis and keyhole connection sign: is it the variant form of Dandy-Walker complex? ( 23235101 )
2012
31
Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2. ( 21412975 )
2011
32
Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient. ( 21204220 )
2011
33
Klippel-Feil syndrome and Dandy-Walker malformation. ( 22303802 )
2011
34
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion. ( 21484435 )
2011
35
Coexistance of cerebral sinovenous thrombosis and Dandy Walker malformation in newborn. ( 21648352 )
2011
36
Giant occipital meningocele in an 8-year-old child with Dandy-Walker malformation. ( 20490510 )
2011
37
De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay. ( 21471554 )
2011
38
Dandy-walker malformation associated with neurocutaneous melanosis. ( 22259699 )
2011
39
Management of Dandy-Walker complex-associated infant hydrocephalus by combined endoscopic third ventriculostomy and choroid plexus cauterization. ( 21961544 )
2011
40
Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesis. ( 21307096 )
2011
41
Dandy-Walker malformation, occipital meningoencephalocele, meso-axial polydactyly and bifid hallux. ( 20436349 )
2010
42
Dandy-Walker malformation: An incidental finding. ( 20838490 )
2010
43
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3a89pter) and partial monosomy 13q (13q33.3a89qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly. ( 21056318 )
2010
44
Usher syndrome associated with a variant of Dandy-Walker malformation. ( 21214164 )
2010
45
Dandy-Walker malformation in Crouzon syndrome. ( 20413808 )
2010
46
Bipolar I disorder in a patient with Dandy-Walker malformation. ( 20447018 )
2010
47
Dandy-Walker malformation: a rare association with hypoparathyroidism. ( 21093738 )
2010
48
Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32). ( 20683983 )
2010
49
Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy-Walker malformation. ( 19655321 )
2009
50
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. ( 19668217 )
2009

Variations for Dandy-Walker Complex

ClinVar genetic disease variations for Dandy-Walker Complex:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh38 Chromosome 4, 122207168: 122207168
2 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh37 Chromosome 4, 123128323: 123128323
3 DPH1 NM_001383.4(DPH1): c.701T> C (p.Leu234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882250 GRCh38 Chromosome 17, 2039760: 2039760
4 DPH1 NM_001383.4(DPH1): c.701T> C (p.Leu234Pro) single nucleotide variant Pathogenic/Likely pathogenic rs730882250 GRCh37 Chromosome 17, 1943054: 1943054

Expression for Dandy-Walker Complex

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

Pathways for Dandy-Walker Complex

GO Terms for Dandy-Walker Complex

Sources for Dandy-Walker Complex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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