eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dandy-walker complex | ||||
| Disease ID | 859 |
|---|---|
| Disease | dandy-walker complex |
| 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 complices dandy-walker cyst dandy-walker cysts dandy-walker deformities dandy-walker deformity dandy-walker malformation dandy-walker syndrome 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:16) C0020255 | hydrocephalus | 5 C0431399 | joubert syndrome | 2 C0342790 | carnitine palmitoyltransferase ii deficiency | 1 C0085113 | neurofibromatosis | 1 C0004782 | basal ganglia disease | 1 C0022679 | cystic kidney | 1 C0152096 | trisomy 18 | 1 C0010273 | crouzon syndrome | 1 C0345335 | multicystic dysplastic kidney | 1 C0004134 | ataxia | 1 C0025299 | meningocele | 1 C0853193 | bipolar i disorder | 1 C0040997 | trigeminal neuralgia | 1 C0022658 | kidney disease | 1 C0022679 | cystic kidneys | 1 C0410528 | skeletal dysplasia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) 546 | ATRX | 2.377 | DISEASES 9332 | CD163 | 1.988 | DISEASES 1376 | CPT2 | 3.036 | DISEASES 6624 | FSCN1 | 2.389 | DISEASES 4697 | NDUFA4 | 4.445 | DISEASES 9678 | PHF14 | 4.887 | DISEASES 9842 | PLEKHM1 | 4.364 | DISEASES 5788 | PTPRC | 1.203 | DISEASES 55503 | TRPV6 | 3.032 | DISEASES 7546 | ZIC2 | 3.499 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 859 |
|---|---|
| Disease | dandy-walker complex |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:22) HP:0000238 | Nonsyndromal hydrocephalus | 5 HP:0001321 | Small cerebellum | 2 HP:0100661 | Trigeminal neuralgia | 1 HP:0004439 | Crouzon syndrome | 1 HP:0002006 | Tessier facial cleft | 1 HP:0001338 | Partial agenesis of the corpus callosum | 1 HP:0001249 | Mental retardation | 1 HP:0002652 | Skeletal dysplasia | 1 HP:0001067 | Neurofibromas | 1 HP:0002436 | Occipital meningocele | 1 HP:0001251 | Ataxia | 1 HP:0002435 | Meningocele | 1 HP:0000003 | Multicystic kidney dysplasia | 1 HP:0000113 | Polycystic kidney dysplasia | 1 HP:0002134 | Abnormality of the basal ganglia | 1 HP:0012642 | Cerebellar agenesis | 1 HP:0002410 | Aqueductal stenosis | 1 HP:0001395 | Hepatic fibrosis | 1 HP:0001274 | Absent corpus callosum | 1 HP:0002664 | Neoplasia | 1 HP:0000627 | Embryotoxon | 1 HP:0005716 | Lethal skeletal dysplasia | 1 |
| Disease ID | 859 |
|---|---|
| Disease | dandy-walker complex |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 859 |
|---|---|
| Disease | dandy-walker complex |
| Case | (Waiting for update.) |