PedAM
Pediatric Disease Annotations & Medicines
| dandy-walker syndrome | ||||
| Disease ID | 852 |
|---|---|
| Disease | dandy-walker syndrome |
| Definition | A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5) |
| Synonym | (atresia of foramina of magendie + luschka) or (dandy - walker syndrome) (atresia of foramina of magendie + luschka) or (dandy - walker syndrome) (disorder) atresia of foramina of magendie and luschka cyst dandy walker cyst dandy walkers cyst, dandy-walker cysts, dandy-walker dandies syndrome walker dandy - walker syndrome dandy malformation walker dandy malformations walker dandy syndrome walker dandy syndrome walkers dandy walker complex dandy walker deformity dandy walker malformation dandy walker syndrome dandy walkers syndrome dandy-walker anomaly dandy-walker complex dandy-walker complices dandy-walker cyst dandy-walker cysts dandy-walker deformities dandy-walker deformity dandy-walker malformation dandy-walker syndrome (disorder) dandy-walker syndrome [disease/finding] dwm dws hydrocephalus with atresia of foramina of magendie and luschka hydrocephalus, internal, dandy-walker type hydrocephalus, noncommunicating, dandy-walker type luschka magendie foramina atresia luschka-magendie foramina atresia malformation, dandy-walker noncommunicating hydrocephalus syndrome dandy walker walker dandy syndrome |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0010964 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:22) 5020 | OXT | DISEASES 3163 | HMOX2 | DISEASES 10804 | GJB6 | DISEASES 968 | CD68 | DISEASES 6496 | SIX3 | DISEASES 23314 | SATB2 | DISEASES 64374 | SIL1 | DISEASES 29999 | FSCN3 | DISEASES 85416 | ZIC5 | DISEASES 4841 | NONO | DISEASES 4838 | NODAL | DISEASES 7547 | ZIC3 | DISEASES 4697 | NDUFA4 | DISEASES 9332 | CD163 | DISEASES 55503 | TRPV6 | DISEASES 5788 | PTPRC | DISEASES 1376 | CPT2 | DISEASES 546 | ATRX | DISEASES 7546 | ZIC2 | DISEASES 6624 | FSCN1 | DISEASES 9678 | PHF14 | DISEASES 9842 | PLEKHM1 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 852 |
|---|---|
| Disease | dandy-walker syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) HP:0100661 | Trigeminal neuralgia | 1 HP:0002435 | Meningocele | 1 HP:0002436 | Occipital meningocele | 1 |
| Disease ID | 852 |
|---|---|
| Disease | dandy-walker syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs28931594 | 19793313 | 2706 | GJB2 | umls:C0010964 | BeFree | Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26. | 0.000271442 | 2009 | GJB2 | 13 | 20189434 | C | T,A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0010964 | valproic acid | D014635 | 99-66-1 | dandy-walker syndrome | MESH:D003616 | marker/mechanism | 1574164 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |