MCID: DND017
MIFTS: 20

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

Categories: Mental diseases, Neuronal diseases, Rare 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 54
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome 54
X-Linked Intellectual Disability - Dandy-Walker Malformation - Basal Ganglia Disease - Seizures 54
Mental Retardation X-Linked with Dandy-Walker Malformation Basal Ganglia Disease and Seizures 54
Dandy-Walker Malformation with Mental Retardation, Basal Ganglia Disease, and Seizures 74
Mental Retardation X-Linked Syndromic 5 54
Pettigrew Syndrome 54
Mrxs5 54
Pgs 54

Classifications:



External Ids:

UMLS 74 C0796254

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

NIH Rare Diseases : 54 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 glucagonoma, and has symptoms including seizures, gait ataxia and muscle spasticity. 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, prostate and bone.

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:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 pemphigoid gestationis 11.7
2 glucagonoma 11.2
3 aromatase deficiency 11.1
4 primary pigmented nodular adrenocortical disease 11.1
5 phacolytic glaucoma 11.1
6 pettigrew syndrome 10.5
7 alacrima, achalasia, and mental retardation syndrome 10.5
8 basal ganglia disease 10.5
9 dandy-walker complex 10.5
10 pyoderma 10.2
11 pyoderma gangrenosum 10.2
12 pathological gambling 10.0
13 polymyositis 10.0
14 buschke-ollendorff syndrome 9.9
15 lung cancer 9.9
16 polycythemia vera 9.9
17 burn scar 9.9
18 primary hyperparathyroidism 9.9
19 hyperparathyroidism 9.9
20 fibrosarcoma 9.9
21 pyogenic granuloma 9.9
22 epidermolytic hyperkeratosis 9.8
23 breast cancer 9.8
24 colorectal cancer 9.8
25 carpal tunnel syndrome 9.8
26 tylosis with esophageal cancer 9.8
27 obsessive-compulsive disorder 9.8
28 prostate cancer 9.8
29 retinoblastoma 9.8
30 rheumatoid arthritis 9.8
31 suppressor of tumorigenicity 3 9.8
32 cystic fibrosis 9.8
33 chronic recurrent multifocal osteomyelitis 9.8
34 stroke, ischemic 9.8
35 prostate cancer, hereditary, 8 9.8
36 langerhans cell histiocytosis 9.8
37 allergic rhinitis 9.8
38 ovarian hyperstimulation syndrome 9.8
39 myocardial infarction 9.8
40 prostate cancer, hereditary, 6 9.8
41 lipoprotein glomerulopathy 9.8
42 mononeuropathy of the median nerve, mild 9.8
43 beta-thalassemia 9.8
44 blood group, junior system 9.8
45 hypertrophic scars 9.8
46 peripheral vascular disease 9.8
47 deficiency anemia 9.8
48 acute myocardial infarction 9.8
49 arthritis 9.8
50 diffuse large b-cell lymphoma 9.8

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:


seizures, gait ataxia, muscle spasticity

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:

42
Brain, Prostate, Bone, Breast, B Cells

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 )
2014

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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