eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ependymoma | ||||
| Disease ID | 694 |
|---|---|
| Disease | ependymoma |
| Definition | Glioma derived from EPENDYMOGLIAL CELLS that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. It may arise from any level of the ventricular system or central canal of the spinal cord. Intracranial ependymomas most frequently originate in the FOURTH VENTRICLE and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. Spinal ependymomas are usually benign papillary or myxopapillary tumors. (From DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9) |
| Synonym | [m]ependymoma nos [m]ependymoma nos (morphologic abnormality) ependymoma (disorder) ependymoma [disease/finding] ependymoma, no icd-o subtype ependymoma, no icd-o subtype (morphologic abnormality) ependymoma, no international classification of diseases for oncology subtype ependymoma, no international classification of diseases for oncology subtype (morphologic abnormality) ependymoma, nos ependymomas epithelial ependymoma epithelial ependymoma (morphologic abnormality) who grade ii ependymal neoplasm who grade ii ependymal tumor |
| Orphanet | |
| DOID | |
| UMLS | C0014474 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:26) C0085113 | neurofibromatosis | 5 C0025149 | medulloblastoma | 3 C0027662 | multiple endocrine neoplasia | 2 C0020255 | hydrocephalus | 2 C0017636 | glioblastoma | 1 C0039144 | syringomyelia | 1 C0027858 | neuromas | 1 C0027858 | neuroma | 1 C0796004 | kabuki syndrome | 1 C0027809 | schwannoma | 1 C0004114 | astrocytomas | 1 C0030421 | paraganglioma | 1 C0205770 | choroid plexus papilloma | 1 C0025267 | multiple endocrine neoplasia type 1 | 1 C0009451 | communicating hydrocephalus | 1 C0033375 | prolactinoma | 1 C0032000 | pituitary adenoma | 1 C0025286 | meningioma | 1 C0206719 | central neurocytoma | 1 C0001430 | adenoma | 1 C0005747 | blepharospasm | 1 C0153676 | pulmonary metastases | 1 C0014553 | absence seizures | 1 C0700367 | ependymoblastoma | 1 C0039538 | teratomas | 1 C0030354 | papilloma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:7) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 694 |
|---|---|
| Disease | ependymoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:25) HP:0002664 | Neoplasia | 15 HP:0001067 | Neurofibromas | 7 HP:0002885 | Medulloblastoma | 3 HP:0040184 | Oral hemorrhage | 3 HP:0003418 | Back pain | 2 HP:0000238 | Nonsyndromal hydrocephalus | 2 HP:0100568 | Endocrine neoplasia | 2 HP:0005881 | Spinal instability | 2 HP:0002121 | Petit mal seizures | 1 HP:0030066 | Ependymoblastoma | 1 HP:0030064 | Neurocytoma | 1 HP:0012531 | Pain | 1 HP:0002668 | Paragangliomas | 1 HP:0200022 | Choroid plexus papilloma | 1 HP:0003396 | Syringomyelia | 1 HP:0012740 | Papilloma | 1 HP:0030430 | Pinched nerve | 1 HP:0100843 | Glioblastoma | 1 HP:0001334 | Communicating hydrocephalus | 1 HP:0002858 | Mengiomia | 1 HP:0000643 | Spontaneous closure of eyelid | 1 HP:0000473 | Spasmodic torticollis | 1 HP:0002385 | Paraparesis | 1 HP:0100008 | Schwann cell tumour | 1 HP:0002893 | Pituitary adenoma | 1 |
| Disease ID | 694 |
|---|---|
| Disease | ependymoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913500 | 23934769 | 4255 | MGMT | umls:C0014474 | BeFree | As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic marker than O(6)-methylguanine-DNA methyltransferase promoter status, we evaluated the presence of IDH1 mutation in Polish patients with astrocytoma, glioblastoma, oligoastrocytoma, ganglioglioma, oligodendroglioma, and ependymoma. | 0.00408156 | 2014 | IDH1 | 2 | 208248388 | C | T |
| rs121913500 | 23934769 | 3417 | IDH1 | umls:C0014474 | BeFree | As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic marker than O(6)-methylguanine-DNA methyltransferase promoter status, we evaluated the presence of IDH1 mutation in Polish patients with astrocytoma, glioblastoma, oligoastrocytoma, ganglioglioma, oligodendroglioma, and ependymoma. | 0.000542884 | 2014 | IDH1 | 2 | 208248388 | C | T |
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 | 694 |
|---|---|
| Disease | ependymoma |
| Case | (Waiting for update.) |