eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ohtahara syndrome | ||||
| Disease ID | 1953 |
|---|---|
| Disease | ohtahara syndrome |
| Definition | A neurological disorder characterized by recurring seizures presenting within the first three months of life, progressive cerebral dysfunction, and an EEG pattern of periods of low electrical brain activity interspersed with bursts of high spiky activity. |
| Synonym | early infantile epileptic encephalopathy with burst-suppression early infantile epileptic encephalopathy with suppression bursts early infantile epileptic encephalopathy with suppression bursts (disorder) eiee with burst-suppression |
| Orphanet | |
| DOID | |
| UMLS | C0393706 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:18) 170302 | ARX | ORPHANET;GHR 51741 | WWOX | ORPHANET 79751 | SLC25A22 | ORPHANET 348980 | HCN1 | ORPHANET 8573 | CASK | ORPHANET 6792 | CDKL5 | ORPHANET;GHR 6812 | STXBP1 | ORPHANET 3785 | KCNQ2 | ORPHANET 2775 | GNAO1 | ORPHANET 3745 | KCNB1 | ORPHANET 6326 | SCN2A | ORPHANET 25977 | NECAP1 | ORPHANET 6334 | SCN8A | ORPHANET 11284 | PNKP | ORPHANET 1759 | DNM1 | ORPHANET 150094 | SIK1 | ORPHANET 9091 | PIGQ | ORPHANET 284111 | SLC13A5 | ORPHANET |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:28) 501 | ALDH7A1 | 1.315 | DISEASES 170302 | ARX | 4.255 | DISEASES 221927 | BRAT1 | 3.34 | DISEASES 6792 | CDKL5 | 3.612 | DISEASES 1676 | DFFA | 1.852 | DISEASES 2066 | ERBB4 | 1.105 | DISEASES 2731 | GLDC | 2.574 | DISEASES 102723508 | KANTR | 1.298 | DISEASES 3785 | KCNQ2 | 6.881 | DISEASES 3786 | KCNQ3 | 2.069 | DISEASES 57582 | KCNT1 | 4.722 | DISEASES 9863 | MAGI2 | 2.799 | DISEASES 54820 | NDE1 | 2.581 | DISEASES 4905 | NSF | 2.015 | DISEASES 5048 | PAFAH1B1 | 1.957 | DISEASES 57526 | PCDH19 | 3.426 | DISEASES 5277 | PIGA | 2.572 | DISEASES 23236 | PLCB1 | 2.247 | DISEASES 11284 | PNKP | 2.939 | DISEASES 5649 | RELN | 1.583 | DISEASES 6324 | SCN1B | 2.248 | DISEASES 6334 | SCN8A | 2.144 | DISEASES 51091 | SEPSECS | 2.109 | DISEASES 79751 | SLC25A22 | 5.398 | DISEASES 6709 | SPTAN1 | 3.609 | DISEASES 6812 | STXBP1 | 6.962 | DISEASES 113457 | TUBA3D | 2.681 | DISEASES 7436 | VLDLR | 1.855 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1953 |
|---|---|
| Disease | ohtahara syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0001298 | Encephalopathy | 2 HP:0200134 | Epileptic encephalopathy | 1 HP:0001321 | Small cerebellum | 1 HP:0001250 | Seizures | 1 HP:0007206 | Hemimegalencephaly | 1 HP:0002180 | Neurodegeneration | 1 HP:0001276 | Hypertonia | 1 |
| Disease ID | 1953 |
|---|---|
| Disease | ohtahara syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
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 |
| rs398122854 | 19738637 | 170302 | ARX | umls:C0393706 | BeFree | Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). | 0.121900093 | 2010 | ARX | X | 25015657 | G | C |
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 | 1953 |
|---|---|
| Disease | ohtahara syndrome |
| Case | (Waiting for update.) |