MCID: DND017
MIFTS: 14

Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures

Categories: Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Dandy-Walker Malformation with Intellectual Disability, Basal...

MalaCards integrated aliases for Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures:

Name: Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 53
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome 53
X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures 53
Mental Retardation X-Linked with Dandy-Walker Malformation Basal Ganglia Disease and Seizures 53
Dandy-Walker Malformation with Mental Retardation, Basal Ganglia Disease, and Seizures 73
Mental Retardation X-Linked Syndromic 5 53
Pettigrew Syndrome 53
Mrxs5 53
Pgs 53

Classifications:



Summaries for Dandy-Walker Malformation with Intellectual Disability, Basal...

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1568Disease definitionX-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures, also known as x-linked intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome, is related to pemphigoid gestationis and pettigrew syndrome, and has symptoms including muscle spasticity, seizures and gait ataxia. An important gene associated with Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures is AP1S2 (Adaptor Related Protein Complex 1 Subunit Sigma 2). Affiliated tissues include brain.

Related Diseases for Dandy-Walker Malformation with Intellectual Disability, Basal...

Diseases related to Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pemphigoid gestationis 11.5
2 pettigrew syndrome 10.4
3 alacrima, achalasia, and mental retardation syndrome 10.4
4 basal ganglia disease 10.4
5 dandy-walker complex 10.4

Graphical network of the top 20 diseases related to Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures:



Diseases related to Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures

Symptoms & Phenotypes for Dandy-Walker Malformation with Intellectual Disability, Basal...

UMLS symptoms related to Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures:


muscle spasticity, seizures, gait ataxia

Drugs & Therapeutics for Dandy-Walker Malformation with Intellectual Disability, Basal...

Search Clinical Trials , NIH Clinical Center for Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures

Genetic Tests for Dandy-Walker Malformation with Intellectual Disability, Basal...

Anatomical Context for Dandy-Walker Malformation with Intellectual Disability, Basal...

MalaCards organs/tissues related to Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures:

41
Brain

Publications for Dandy-Walker Malformation with Intellectual Disability, Basal...

Articles related to Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures:

# Title Authors Year
1
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). ( 23756445 )
2013

Variations for Dandy-Walker Malformation with Intellectual Disability, Basal...

Expression for Dandy-Walker Malformation with Intellectual Disability, Basal...

Search GEO for disease gene expression data for Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures.

Pathways for Dandy-Walker Malformation with Intellectual Disability, Basal...

GO Terms for Dandy-Walker Malformation with Intellectual Disability, Basal...

Sources for Dandy-Walker Malformation with Intellectual Disability, Basal...

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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