eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| neuroepithelioma | ||||
| Disease ID | 1107 |
|---|---|
| Disease | neuroepithelioma |
| Definition | A group of malignant tumors of the nervous system that feature primitive cells with elements of neuronal and/or glial differentiation. Use of this term is limited by some authors to central nervous system tumors and others include neoplasms of similar origin which arise extracranially (i.e., NEUROECTODERMAL TUMORS, PRIMITIVE, PERIPHERAL). This term is also occasionally used as a synonym for MEDULLOBLASTOMA. In general, these tumors arise in the first decade of life and tend to be highly malignant. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2059) |
| Synonym | [m] primitive neuroectodermal tumor [m] primitive neuroectodermal tumour [m]neuroepithelioma nos [m]neuroepithelioma nos (morphologic abnormality) [m]primitive neuroectodermal tumor [m]primitive neuroectodermal tumour neopl primitive neuroepithelial neoplasm, primitive neuroepithelial neoplasms, primitive neuroepithelial neuroectodermal primitive tumors neuroectodermal tumor, primitive neuroectodermal tumors, primitive neuroectodermal tumors, primitive [disease/finding] neuroepithelial neopl primitive neuroepithelial neoplasm, primitive neuroepithelial neoplasms, primitive neuroepithelial tumor, primitive neuroepithelial tumors, primitive neuroepithelioma (morphologic abnormality) neuroepithelioma, nos pnet pnet - primitive neuroectodermal tumor pnet - primitive neuroectodermal tumour pnets primitive neuroectodermal neoplasm primitive neuroectodermal tumor primitive neuroectodermal tumor (disorder) primitive neuroectodermal tumor (morphologic abnormality) primitive neuroectodermal tumor (pnet) primitive neuroectodermal tumors primitive neuroectodermal tumour primitive neuroectodermal tumour (disorder) primitive neuroepithelial neopl primitive neuroepithelial neoplasm primitive neuroepithelial neoplasms primitive neuroepithelial tumor primitive neuroepithelial tumors tumor, primitive neuroectodermal tumor, primitive neuroepithelial tumors, primitive neuroectodermal tumors, primitive neuroepithelial |
| Orphanet | |
| DOID | |
| UMLS | C0206663 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:35) C0494165 | liver metastases | 10 C1261473 | sarcoma | 4 C0017636 | glioblastoma | 4 C0027662 | multiple endocrine neoplasia | 3 C0025267 | multiple endocrine neoplasia type 1 | 3 C0494165 | hepatic metastases | 2 C0019562 | lindau disease | 2 C0019562 | hippel-lindau disease | 2 C0019562 | von hippel-lindau disease | 2 C0039538 | teratoma | 2 C0700367 | ependymoblastoma | 2 C0206754 | neuroendocrine tumor | 1 C0555198 | malignant glioma | 1 C0206093 | primitive neuroectodermal tumor | 1 C0085113 | neurofibromatosis | 1 C0040053 | thrombus | 1 C0206754 | neuroendocrine tumors | 1 C0032326 | pneumothorax | 1 C0021670 | insulinoma | 1 C0031511 | pheochromocytoma | 1 C1368910 | mature teratoma | 1 C0007134 | renal cell carcinoma | 1 C0024586 | carcinoid syndrome | 1 C0392548 | cauda equina syndrome | 1 C0011649 | mature cystic teratoma | 1 C0686377 | cns metastasis | 1 C0014145 | yolk sac tumor | 1 C0494165 | liver metastasis | 1 C0409974 | lupus erythematosus | 1 C0024141 | systemic lupus erythematosus | 1 C0206093 | neuroectodermal tumors | 1 C0555198 | malignant gliomas | 1 C0001418 | adenocarcinoma | 1 C0017636 | glioblastomas | 1 C0206754 | neuroendocrine tumour | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:8) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1107 |
|---|---|
| Disease | neuroepithelioma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:25) HP:0002664 | Neoplasia | 16 HP:0100843 | Glioblastoma | 4 HP:0100242 | Sarcoma | 4 HP:0100568 | Endocrine neoplasia | 3 HP:0002170 | Intracranial hemorrhage | 2 HP:0009792 | Teratoma | 2 HP:0030066 | Ependymoblastoma | 2 HP:0000718 | Aggressive behaviour | 1 HP:0006723 | Intestinal carcinoid | 1 HP:0002896 | Liver cancer | 1 HP:0001250 | Seizures | 1 HP:0100728 | Germ cell neoplasia | 1 HP:0001596 | Hair loss | 1 HP:0002666 | Pheochromocytoma | 1 HP:0040184 | Oral hemorrhage | 1 HP:0012197 | Insulinoma | 1 HP:0002725 | Systemic lupus erythematosus | 1 HP:0005584 | Renal cell carcinoma | 1 HP:0001067 | Neurofibromas | 1 HP:0001342 | Intracerebral hemorrhage | 1 HP:0200034 | Papule | 1 HP:0030065 | Primitive neuroectodermal tumor | 1 HP:0002835 | Aspiration | 1 HP:0100570 | Carcinoid tumor | 1 HP:0002107 | Collapsed lung | 1 |
| Disease ID | 1107 |
|---|---|
| Disease | neuroepithelioma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0206717 | olfactory neuroblastomas |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs293795 | 22389292 | 4968 | OGG1 | umls:C0206663 | BeFree | However, after correcting for multiple comparisons, only the interaction between high trichloroethylene levels and OGG1 rs293795 significantly increased the risk of childhood M/PNET risk (OR = 9.24, 95% CI: 2.24, 38.24, Q = 0.04). | 0.000271442 | 2012 | OGG1;CAMK1 | 3 | 9757429 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (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.) |
| Disease ID | 1107 |
|---|---|
| Disease | neuroepithelioma |
| Case | (Waiting for update.) |