eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pleomorphic xanthoastrocytoma | ||||
| Disease ID | 1484 |
|---|---|
| Disease | pleomorphic xanthoastrocytoma |
| Definition | A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults. |
| Synonym | [m] pleomorphic xanthoastrocytoma [m]pleomorphic xanthoastrocytoma pleomorphic xantho-astrocytoma pleomorphic xanthoastrocytoma (disorder) pleomorphic xanthoastrocytoma (morphologic abnormality) |
| Orphanet | |
| DOID | |
| UMLS | C0334586 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:36) 430 | ASCL2 | 2.36 | DISEASES 171023 | ASXL1 | 2.297 | DISEASES 10533 | ATG7 | 1.264 | DISEASES 546 | ATRX | 3.288 | DISEASES 54880 | BCOR | 2.631 | DISEASES 1029 | CDKN2A | 2.676 | DISEASES 51428 | DDX41 | 1.173 | DISEASES 8880 | FUBP1 | 4.05 | DISEASES 3020 | H3F3A | 4.082 | DISEASES 8350 | HIST1H3A | 2.644 | DISEASES 8352 | HIST1H3C | 2.43 | DISEASES 8351 | HIST1H3D | 2.644 | DISEASES 8353 | HIST1H3E | 2.436 | DISEASES 8968 | HIST1H3F | 2.644 | DISEASES 8355 | HIST1H3G | 2.644 | DISEASES 8357 | HIST1H3H | 2.644 | DISEASES 8354 | HIST1H3I | 2.644 | DISEASES 8356 | HIST1H3J | 2.434 | DISEASES 3418 | IDH2 | 2.301 | DISEASES 57670 | KIAA1549 | 4.277 | DISEASES 5609 | MAP2K7 | 1.474 | DISEASES 4193 | MDM2 | 1.027 | DISEASES 10608 | MXD4 | 2.85 | DISEASES 4763 | NF1 | 3.391 | DISEASES 4782 | NFIC | 1.752 | DISEASES 10215 | OLIG2 | 2.904 | DISEASES 5728 | PTEN | 2.502 | DISEASES 6280 | S100A9 | 1.088 | DISEASES 83482 | SCRT1 | 1.953 | DISEASES 5265 | SERPINA1 | 1.083 | DISEASES 6597 | SMARCA4 | 1.078 | DISEASES 10178 | TENM1 | 2.388 | DISEASES 55714 | TENM3 | 2.599 | DISEASES 51337 | THEM6 | 2.271 | DISEASES 54664 | TMEM106B | 2.324 | DISEASES 10381 | TUBB3 | 2.341 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1484 |
|---|---|
| Disease | pleomorphic xanthoastrocytoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1484 |
|---|---|
| Disease | pleomorphic xanthoastrocytoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113488022 | 25346165 | 673 | BRAF | umls:C0334586 | BeFree | An institutional cohort of 105 brain tumors (51 dysembryoplastic neuroepithelial tumors (DNTs), 14 subependymal giant cell astrocytomas (SEGAs), 12 glioblastoma with neuronal marker expression (GBM-N), and 28 pleomorphic xanthoastrocytomas (PXAs)) from 100 patients were investigated for the presence of BRAF(V600E) by direct sequencing. | 0.002171535 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25752754 | 1029 | CDKN2A | umls:C0334586 | BeFree | These tumors showed a markedly better prognosis, with molecularly PXA-like tumors frequently harboring BRAF V600E mutations and 9p21 (CDKN2A) homozygous deletion. | 0.000271442 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25885250 | 673 | BRAF | umls:C0334586 | BeFree | The BRAF V600E mutation occurs frequently in certain brain tumors such as pleomorphic xanthoastrocytoma, ganglioglioma, and pilocytic astrocytoma, and less frequently in epithelioid and giant cell glioblastoma. | 0.002171535 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24857351 | 673 | BRAF | umls:C0334586 | BeFree | Although this glioma was difficult to clarify, diagnosis of pleomorphic xanthoastrocytoma with anaplastic feature was suggested based on the association of some pathological feature (eosinophilic granular bodies, reticulin network and diffuse CD34 expression) and the BRAF V600E mutation. | 0.002171535 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21479234 | 673 | BRAF | umls:C0334586 | BeFree | BRAF V600E mutations are common in pleomorphic xanthoastrocytoma: diagnostic and therapeutic implications. | 0.002171535 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24857351 | 947 | CD34 | umls:C0334586 | BeFree | Although this glioma was difficult to clarify, diagnosis of pleomorphic xanthoastrocytoma with anaplastic feature was suggested based on the association of some pathological feature (eosinophilic granular bodies, reticulin network and diffuse CD34 expression) and the BRAF V600E mutation. | 0.000542884 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24894018 | 673 | BRAF | umls:C0334586 | BeFree | Epithelioid glioblastoma arising from pleomorphic xanthoastrocytoma with the BRAF V600E mutation. | 0.002171535 | 2014 | BRAF | 7 | 140753336 | A | T,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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1484 |
|---|---|
| Disease | pleomorphic xanthoastrocytoma |
| Case | (Waiting for update.) |