PGS
MCID: DND017
MIFTS: 17

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

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 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 72
Mental Retardation X-Linked Syndromic 5 53
Pettigrew Syndrome 53
Mrxs5 53
Pgs 53

Classifications:



External Ids:

UMLS 72 C0796254

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: 1568DefinitionX-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.

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 184)
# Related Disease Score Top Affiliating Genes
1 pemphigoid gestationis 11.8
2 glucagonoma 11.4
3 aromatase deficiency 11.2
4 primary pigmented nodular adrenocortical disease 11.2
5 phacolytic glaucoma 11.2
6 pettigrew syndrome 10.5
7 alacrima, achalasia, and mental retardation syndrome 10.5
8 visual epilepsy 10.5
9 basal ganglia disease 10.5
10 seizure disorder 10.5
11 pyoderma 10.3
12 pyoderma gangrenosum 10.3
13 gastric cancer 10.2
14 lung cancer 10.2
15 hair whorl 10.1
16 bone resorption disease 10.1
17 periodontitis 10.1
18 hypertension, essential 10.0
19 allergic rhinitis 10.0
20 primary hyperparathyroidism 10.0
21 lyme disease 10.0
22 pathological gambling 10.0
23 hyperparathyroidism 10.0
24 rhinitis 10.0
25 peptic ulcer disease 10.0
26 breast cancer 10.0
27 triiodothyronine receptor auxiliary protein 10.0
28 cervical cancer 10.0
29 ovarian hyperstimulation syndrome 10.0
30 acute promyelocytic leukemia 10.0
31 pain agnosia 10.0
32 adenoid cystic carcinoma 10.0
33 gastroparesis 10.0
34 diarrhea 10.0
35 amenorrhea 10.0
36 duodenal ulcer 10.0
37 astrocytoma 10.0
38 fibrosarcoma 10.0
39 liver disease 10.0
40 ovarian cyst 10.0
41 kidney disease 10.0
42 end stage renal failure 10.0
43 vasculitis 10.0
44 cervix uteri carcinoma in situ 10.0
45 acute myocardial infarction 10.0
46 48,xyyy 10.0
47 cervical intraepithelial neoplasia 10.0
48 cytokine deficiency 10.0
49 pyogenic granuloma 10.0
50 rapidly involuting congenital hemangioma 10.0

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:

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 PMID Year
1
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). 38
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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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