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MCID: CLL010
MIFTS: 53

Cellular Ependymoma

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cellular Ependymoma

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MalaCards integrated aliases for Cellular Ependymoma:

Name: Cellular Ependymoma 12 52 15 71
Ependymoma 52 58 54 6
Classic Ependymoma 52 58
Who Grade Ii Ependymal Neoplasm 52
Epithelial Ependymoma 52
Clear Cell Ependymoma 52
Tanycytic Ependymoma 52
Papillary Ependymoma 52
Ependymoma, Familial 52

Characteristics:

Orphanet epidemiological data:

58
ependymoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases Genetic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:5500
MeSH 43 D004806
NCIt 49 C4713 C4714
SNOMED-CT 67 57706008
ICD10 via Orphanet 33 D43.2
UMLS via Orphanet 72 C0014474
Orphanet 58 ORPHA251636
UMLS 71 C1384403
Sources

Summaries for Cellular Ependymoma

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NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 251636 Definition Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, seizures , focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases. Visit the Orphanet disease page for more resources.

MalaCards based summary : Cellular Ependymoma, also known as ependymoma, is related to tanycytic ependymoma and pediatric ependymoma. An important gene associated with Cellular Ependymoma is MEN1 (Menin 1). The drugs Carboplatin and Donepezil have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and t cells, and related phenotypes are seizures and gait disturbance

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Related Diseases for Cellular Ependymoma

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Diseases related to Cellular Ependymoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 439)
# Related Disease Score Top Affiliating Genes
1 tanycytic ependymoma 34.5 SYP OLIG2
2 pediatric ependymoma 34.3 RELA MEN1 C11orf95
3 pediatric supratentorial ependymoma 34.2 RELA C11orf95
4 spinal cord ependymoma 34.1 MEN1 C11orf95
5 rela fusion-positive ependymoma 34.0 RELA C11orf95
6 clear cell ependymoma 32.8 SYP OLIG2 C11orf95
7 juvenile pilocytic astrocytoma 30.9 SYP OLIG2
8 malignant ependymoma 30.7 RELA C11orf95
9 central neurocytoma 30.6 SYP OLIG2
10 benign ependymoma 30.5 SYP MEN1
11 meningioma, familial 30.5 SYP OLIG2 MEN1
12 anaplastic ependymoma 30.4 SYP RELA
13 obstructive hydrocephalus 30.4 SYP OLIG2 FOXJ1
14 myxopapillary ependymoma 30.2 SYP RELA C11orf95
15 supratentorial primitive neuroectodermal tumor 30.2 SYP CD99
16 choroid plexus cancer 30.1 SYP C11orf95
17 gliofibroma 30.1 SYP CD99
18 lipomatosis, multiple 30.0 MEN1 C11orf95
19 malignant teratoma 30.0 SYP CD99
20 spinal cancer 29.8 SYP CD99 C11orf95
21 supratentorial cancer 29.5 SYP RELA OLIG2 C11orf95
22 papillary ependymoma 12.6
23 adult brain ependymoma 12.4
24 brain ependymoma 12.3
25 pediatric infratentorial ependymoma 12.3
26 brain stem ependymoma 12.3
27 adult spinal cord ependymoma 12.2
28 malignant adult ependymoma 12.1
29 mixed astrocytoma-ependymoma-oligodendroglioma 12.1
30 mixed astrocytoma-ependymoma 12.1
31 parietal lobe ependymoma 12.1
32 obsolete: low-grade ependymoma 12.1
33 glioma susceptibility 1 11.8
34 neurofibromatosis, type ii 11.6
35 medulloblastoma 11.6
36 diencephalic syndrome 11.5
37 glioma susceptibility 2 11.2
38 glioma susceptibility 3 11.2
39 glioma susceptibility 9 11.2
40 subependymal glioma 11.1
41 astrocytoma 10.7
42 neurilemmoma 10.7
43 neurofibromatosis, type iv, of riccardi 10.6
44 oligodendroglioma 10.5
45 gastrointestinal neuroendocrine benign tumor 10.4 SYP MEN1
46 gastric neuroendocrine neoplasm 10.4 SYP MEN1
47 esophageal neuroendocrine tumor 10.4 SYP MEN1
48 pancreatic gastrinoma 10.4 SYP MEN1
49 gastrointestinal neuroendocrine tumor 10.4 SYP MEN1
50 carcinoid tumors, intestinal 10.4 SYP MEN1

Graphical network of the top 20 diseases related to Cellular Ependymoma:



Diseases related to Cellular Ependymoma
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Symptoms & Phenotypes for Cellular Ependymoma

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Human phenotypes related to Cellular Ependymoma:

58 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 Occasional (29-5%)
2 gait disturbance 58 Occasional (29-5%)
3 vomiting 58 Occasional (29-5%)
4 neoplasm of the lung 58 Very rare (<4-1%)
5 migraine 58 Frequent (79-30%)
6 pain 58 Frequent (79-30%)
7 ovarian neoplasm 58 Very rare (<4-1%)
8 neoplasm of the breast 58 Very rare (<4-1%)
9 spinal cord tumor 58 Occasional (29-5%)
10 distal muscle weakness 58 Occasional (29-5%)
11 neoplasm of the liver 58 Very rare (<4-1%)
12 ependymoma 58 Obligate (100%)
13 abnormal cell morphology 58 Frequent (79-30%)
14 dysesthesia 58 Occasional (29-5%)
15 supratentorial neoplasm 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Cellular Ependymoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.76 FOXJ1 IFT27 MEN1 OLIG2 RELA RFX2
2 embryo MP:0005380 9.5 FOXJ1 IFT27 MEN1 RELA RFX2 RFX3
3 nervous system MP:0003631 9.32 CROCC FOXJ1 IFT27 L2HGDH MEN1 OLIG2
Sources

Drugs & Therapeutics for Cellular Ependymoma

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Drugs for Cellular Ependymoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 302)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
2
Donepezil Approved Phase 3 120014-06-4 3152
3
Ondansetron Approved Phase 3 99614-02-5 4595
4
Granisetron Approved, Investigational Phase 3 109889-09-0 3510
5
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
6
Valproic acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
7
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
8
Methylphenidate Approved, Investigational Phase 3 113-45-1 4158
9
Histamine Approved, Investigational Phase 3 51-45-6 774
10
Cyproheptadine Approved Phase 3 129-03-3 2913
11 Trofosfamide Investigational Phase 2, Phase 3 22089-22-1
12 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
13
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
14 Liver Extracts Phase 3
15 Nootropic Agents Phase 3
16 Cholinergic Agents Phase 3
17 Cholinesterase Inhibitors Phase 3
18 Analgesics Phase 3
19 Emetics Phase 3
20 Anesthetics Phase 3
21 Cola Phase 3
22 Narcotics Phase 3
23 Anesthetics, General Phase 3
24 Analgesics, Opioid Phase 3
25 Adjuvants, Anesthesia Phase 3
26 Anesthetics, Intravenous Phase 3
27 Psychotropic Drugs Phase 2, Phase 3
28 Tranquilizing Agents Phase 2, Phase 3
29 GABA Agents Phase 2, Phase 3
30 Anticonvulsants Phase 2, Phase 3
31 Antimanic Agents Phase 2, Phase 3
32 Central Nervous System Depressants Phase 2, Phase 3
33 Podophyllotoxin Phase 3 518-28-5
34 Dermatologic Agents Phase 3
35 Neurotransmitter Agents Phase 3
36 Dopamine Agents Phase 3
37 Central Nervous System Stimulants Phase 3
38 Dopamine Uptake Inhibitors Phase 3
39 Dexmethylphenidate Hydrochloride Phase 3
40 Histamine H1 Antagonists Phase 3
41 Antipruritics Phase 3
42
Histamine Phosphate Phase 3 51-74-1 65513
43 Histamine Antagonists Phase 3
44 Anti-Allergic Agents Phase 3
45 Serotonin Antagonists Phase 3
46 Serotonin Agents Phase 3
47
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
48
Aminolevulinic acid Approved Phase 2 106-60-5 137
49
Mannitol Approved, Investigational Phase 2 69-65-8 453 6251
50
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907

Interventional clinical trials:

(show top 50) (show all 266)
# Name Status NCT ID Phase Drugs
1 Dose Intensive Chemotherapy for Children Less Than Ten Years of Age Newly-Diagnosed With Malignant Brain Tumors: A Pilot Study of Two Alternative Intensive Induction Chemotherapy Regimens, Followed by Consolidation With Myeloablative Chemotherapy (Thiotepa and Carboplatin, With or Without Etoposide) and Autologous Stem Cell Rescue [HEAD START III] Unknown status NCT00392886 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;methotrexate;temozolomide;thiotepa;vincristine sulfate
2 Efficacy of Stereotactic Conformal Radiotherapy (SCRT) Compared to Conventional Radiotherapy in Minimising Late Sequelae in Children and Young Adults With Brain Tumours: a Randomised Clinical Trial Unknown status NCT00517959 Phase 3
3 Phase III Double Blind, Placebo Controlled Study of Donepezil in the Irradiated Brain Completed NCT00369785 Phase 3 donepezil hydrochloride;Placebo
4 Randomized Controlled Trial of Acupressure to Control Chemotherapy-Induced Nausea (CIN) in Children Receiving Highly Emetogenic Chemotherapy Completed NCT01346267 Phase 3
5 Therapy-Optimization Trial and Phase II Study for the Treatment of Relapsed or Refractory of Primitive Neuroectodermal Brain Tumors and Ependymomas in Children and Adolescents Completed NCT00749723 Phase 2, Phase 3 carboplatin;etoposide;temozolomide;thiotepa, carboplatin, etoposide;temozolomide, thiotepa;intraventricular etoposide;trofosfamide, etoposide
6 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
7 An International Clinical Program for the Diagnosis and Treatment of Children, Adolescents and Young Adults With Ependymoma Recruiting NCT02265770 Phase 2, Phase 3 16 weeks of VEC + CDDP;VEC + HD-MTX;Chemotherapy + Valproate;VEC;Chemotherapy
8 Phase III Randomized Trial of Post-Radiation Chemotherapy in Patients With Newly Diagnosed Ependymoma Ages 1 to 21 Years Active, not recruiting NCT01096368 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Etoposide;Vincristine Sulfate Liposome
9 A Phase III, Double-Blind, Prospective Randomized Clinical Trial of the Effect of D-threo-methylphenidate HCl (d-MPH) on Quality of Life in Brain Tumor Patients Receiving Radiation Therapy Terminated NCT00031798 Phase 3 methylphenidate hydrochloride
10 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
11 Phase II Study of Intravenous Etoposide in Patients With Relapsed Ependymoma Unknown status NCT00278252 Phase 2 etoposide
12 Phase II Study of High-Dose Methotrexate in Children With Residual Ependymoma Unknown status NCT00287924 Phase 2 methotrexate
13 A Phase 2 Study of Aminolevulinic Acid (ALA) to Enhance Visualization and Resection of Malignant Glial Tumors of the Brain Unknown status NCT01403311 Phase 2 5-Aminolevuline Acid
14 Management of Children Aged Less Than 3 Years With Brain Tumors Unknown status NCT00281905 Phase 2 carboplatin;cisplatin;cyclophosphamide;methotrexate;vincristine sulfate
15 Phase I/II Clinical Trial of the Safety, Tolerability, and Anti-tumor Efficacy of the IGF-1R Inhibitor, AXL1717 (Picropodophyllin), in the Treatment of Recurrent Malignant Astrocytomas Unknown status NCT01721577 Phase 1, Phase 2 AXL1717
16 Phase I/II Study of Intratumoral Injection of DTI-015 Prior to Tumor Resection in Patients With Recurrent Malignant Glioma or Metastatic Neoplasm to Brain Unknown status NCT00009854 Phase 1, Phase 2 carmustine in ethanol
17 Proton Radiation for Low Grade Gliomas Unknown status NCT01024907 Phase 1, Phase 2
18 Low-dose Intra-arterial Bevacizumab for Edema and Radiation Necrosis Therapeutic Intervention (LIBERTI) Unknown status NCT02819479 Phase 2 25% Mannitol;Low-dose Intra-arterial Bevacizumab
19 SIOP Study of Combined Modality Treatment in Childhood Ependymoma Completed NCT00004224 Phase 2 cyclophosphamide;etoposide;vincristine sulfate
20 Dose Intensive Chemotherapy for Patients Greater Than or Equal To 10 Years of Age With Newly Diagnosed High Stage Medulloblastoma, Supratentorial Primitive Neuroectodermal Tumors (PNET) and Ependymoma: A Feasibility Study of an Intensive Induction Chemotherapy Regimen Followed by Standard Irradiation Completed NCT00006258 Phase 2 cisplatin;cyclophosphamide;etoposide;methotrexate;vincristine sulfate
21 A Phase II Study of Pemetrexed in Children With Recurrent Malignancies Completed NCT00520936 Phase 2 pemetrexed
22 A Phase II Trial of Preradiation Multiagent Chemotherapy for Adults With "Poor Risk" Medulloblastoma, PNET, and Disseminated Ependymoma Completed NCT00003309 Phase 2 cisplatin;cyclophosphamide;etoposide;vincristine sulfate
23 PHASE I STUDY OF ANTI-TENASCIN MONOCLONAL ANTIBODY 131I 81C6 VIA SURGICALLY CREATED CYSTIC RESECTION CAVITY IN THE TREATMENT OF PATIENTS WITH PRIMARY OR METASTATIC MALIGNANT BRAIN TUMORS Completed NCT00002752 Phase 1, Phase 2
24 A Phase II Trial of Conformal Radiation Therapy for Pediatric Patients With Localized Ependymoma, Chemotherapy Prior to Second Surgery for Incompletely Resected Ependymoma and Observation for Completely Resected, Differentiated, Supratentorial Ependymoma Completed NCT00027846 Phase 2 carboplatin;cyclophosphamide;etoposide;vincristine sulfate;Mesna
25 A Phase II Trial of Continuous Low-Dose Temozolomide for Patients With Recurrent Malignant Glioma Completed NCT00498927 Phase 2 temozolomide
26 A PHASE II TRIAL OF ETOPOSIDE AND CISPLATIN IN THE TREATMENT OF RECURRENT EPENDYMOMAS Completed NCT00002876 Phase 2 cisplatin;etoposide
27 A Phase II Study of Image-Guided Radiation Therapy for Pediatric CNS Tumors and Quantification of Radiation-Related CNS Effects Completed NCT00187226 Phase 2
28 CAMP 013:- Tandem Thiotepa Regimen For Selected Malignant Gliomas:1) Primary Or Recurrent Glioblastoma Multiforme (GBM); and 2) Recurrent Anaplastic Astrocytomas (AA), Oligodendrogliomas (O), Oligoastrocytomas (OA), Ependymomas And Primitive Neuroectodermal Tumors (PNET) That Have Either Progressed After Primary Therapy Or Are Refractory To Standard Chemotherapy Completed NCT00008008 Phase 2 cyclophosphamide;thiotepa
29 Cisplatin, Doxorubicin and Tamoxifen in the Treatment of Incurable Soft Tissue and Endocrine Malignancies Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
30 Improved Characterization of Brain Tumors By MRI and MRS Completed NCT00274755 Phase 2 chemotherapy
31 A Phase II Study of Sunitinib (NSC# 736511) in Recurrent, Refractory or Progressive High Grade Glioma and Ependymoma Tumors in Pediatric and Young Adult Patients Completed NCT01462695 Phase 2 Sunitinib Malate
32 A Phase II Trial of Rebeccamycin Analogue (NSC #655649) in Children With Solid Tumors Completed NCT00006102 Phase 2 becatecarin
33 Phase II Treatment of Children With Newly Diagnosed Malignant Central Nervous System Tumors With Temozolomide Prior to Radiation Therapy Completed NCT00005955 Phase 2 temozolomide
34 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
35 Phase II Study of Everolimus (RAD001, Afinitor®) for Children With Recurrent or Progressive Ependymoma Completed NCT02155920 Phase 2 Everolimus
36 Molecular Biology and Phase II Study of Lapatinib (GW572016) in Pediatric Patients With Recurrent or Refractory Medulloblastoma, Malignant Glioma or Ependymoma Completed NCT00095940 Phase 1, Phase 2 lapatinib ditosylate
37 A Phase II Study of Dose-Dense Temozolomide and Lapatinib for Recurrent Low-Grade and Anaplastic Supratentorial, Infratentorial and Spinal Cord Ependymoma Completed NCT00826241 Phase 2 Temozolomide;Lapatinib
38 A Pilot Study of Tamoxifen, Carboplatin and Topotecan in the Treatment of Recurrent or Refractory Primary Brain or Spinal Cord Tumors or Metastatic Epithelial Cancers With Central Nervous System Metastases Completed NCT00541138 Phase 2 carboplatin;tamoxifen citrate;topotecan hydrochloride
39 Donepezil and EGb761 in Improving Neurocognitive Function in Patients Who Have Previously Undergone Radiation Therapy for Primary Brain Tumor or Brain Metastases Completed NCT00070161 Phase 2 donepezil hydrochloride
40 A Feasibility Study of Armodafinil for Brain Radiation-Induced Fatigue Completed NCT01032200 Phase 2 Armodafinil
41 Phase II Trial Of High Dose Cyclophosphamide, Cisplatin And Carmustine With Stem Cell Reconstitution Followed By Specific Cellular Therapy In Patients With Recurrent Or Refractory Brain Tumors Completed NCT00014573 Phase 2 carmustine;cisplatin;cyclophosphamide;paclitaxel
42 Phase II Study of Methotrexate, Mechlorethamine, Vincristine, Prednisone, and Procarbazine (MMOPP) as Primary Therapy in Infants or Young Children With Primitive Neuroectodermal Tumors or High-Grade Astrocytoma Completed NCT00002463 Phase 2 MOPP Regimen;Leucovorin Calcium;Mechlorethamine Hydrochloride;Methotrexate;Prednisone;Procarbazine Hydrochloride;Vincristine Sulfate
43 Phase II Study of Bevacizumab Plus Irinotecan (Camptosar™) in Children With Recurrent, Progressive, or Refractory Malignant Gliomas, Diffuse/Intrinsic Brain Stem Gliomas, Medulloblastomas, Ependymomas and Low Grade Gliomas Completed NCT00381797 Phase 2 Irinotecan Hydrochloride
44 Phase II Study of Phenylacetate in Pediatric Patients With Central Nervous System Tumors Completed NCT00003241 Phase 2 phenylacetate
45 Levetiracetam and Pregabalin for Monotherapy in Patients With Brain Tumors and Seizures. A Phase II Randomized Study. Completed NCT00629889 Phase 2 levetiracetam;pregabalin
46 A Phase II Study of Bevacizumab and Lapatinib in Children With Recurrent or Refractory Ependymoma Completed NCT00883688 Phase 2 Bevacizumab;Lapatinib
47 A Phase II Trial of Intravenous Cereport (RMP-7) and Carboplatin in Childhood Brain Tumors Completed NCT00019422 Phase 2 carboplatin;lobradimil
48 The Effect of Cyproheptadine Hydrochloride (Periactin) and Megestrol Acetate (Megace) on Weight in Children With Cancer/Treatment Related Cachexia Completed NCT00066248 Phase 2 cyproheptadine hydrochloride;megestrol acetate
49 A Phase II Trial of Poly ICLC in Patients With Recurrent Anaplastic Glioma Completed NCT00058123 Phase 2 poly ICLC
50 A Phase II Study of Oxaliplatin in Children With Recurrent Solid Tumors Completed NCT00091182 Phase 2 oxaliplatin

Search NIH Clinical Center for Cellular Ependymoma

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Genetic Tests for Cellular Ependymoma

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Anatomical Context for Cellular Ependymoma

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MalaCards organs/tissues related to Cellular Ependymoma:

40
Brain, Spinal Cord, T Cells, Pituitary, Pineal, Bone, Liver
Sources

Publications for Cellular Ependymoma

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Articles related to Cellular Ependymoma:

(show top 50) (show all 3638)
# Title Authors PMID Year
1
Genetics of Common Pediatric Brain Tumors. 61
31948735 2020
2
Prognostic value of H3K27me3 in children with ependymoma. 61
31850684 2020
3
A comparison study assessing neuropsychological outcome of patients with post-operative pediatric cerebellar mutism syndrome and matched controls after proton radiation therapy. 61
31325031 2020
4
Zika Virus Targets Glioblastoma Stem Cells through a SOX2-Integrin αvβ5 Axis. 61
31956038 2020
5
Molecular characterization of histopathological ependymoma variants. 61
31679042 2020
6
TSC2 alterations in anaplastic ependymoma progression to ependymosarcoma. 61
32017698 2020
7
Multiplatform Molecular Profiling Reveals Epigenomic Intratumor Heterogeneity in Ependymoma. 61
32023450 2020
8
Resection of Myxopapillary Ependymoma of the Filum Terminale: 2-Dimensional Operative Video. 61
31073602 2020
9
Is H3K27me3 status really a strong prognostic indicator for pediatric posterior fossa ependymomas? A single surgeon, single center experience. 61
32025869 2020
10
Contemporary management of pediatric spinal tumors: a single institute's experience in Taiwan in the modern era. 61
32020480 2020
11
[Classification of the types of pediatric posterior fossa brain tumors based on routine MRI using wavelet transformation analysis of whole tumor]. 61
32008282 2020
12
Diffusion Tensor Imaging Connectomics Reveals Preoperative Neural Connectivity Changes in Children with Postsurgical Posterior Fossa Syndrome. 61
31908091 2020
13
In vitro benchmarking of NF-κB inhibitors. 61
32014486 2020
14
NF2/Merlin suppresses proliferation and induces apoptosis in colorectal cancer cells. 61
31585900 2020
15
Treatment of children under 4 years of age with medulloblastoma and ependymoma in the HIT2000/HIT-REZ 2005 trials: Neuropsychological outcome 5 years after treatment. 61
31971950 2020
16
Adrenal Cortical Adenoma in the Spinal Canal: A Case Report and Review of the Literature. 61
31127594 2020
17
Predicting dysphagia in children undergoing surgery for posterior fossa tumors. 61
31897637 2020
18
Filum Terminale Ependymoma in an Infant with Meningocele. 61
31962322 2020
19
Temporal lobe angiocentric glioma with oligodendroglioma-like areas: a rare association of an uncommon tumor. A case report with review of literature. 61
31897632 2020
20
Surgical management of spinal intramedullary tumors: Ten-year experience in a single institution. 61
31932186 2020
21
Posterolateral myelotomy for intramedullary spinal cord tumors: the other way to do it? 61
31811465 2020
22
Targeted fusion analysis can aid in the classification and treatment of pediatric glioma, ependymoma, and glioneuronal tumors. 61
31595628 2020
23
Subgroup-specific outcomes of children with malignant childhood brain tumors treated with an irradiation-sparing protocol. 61
31375903 2020
24
Health-Related Quality of Life after Microscopically Total Removal of Spinal Intramedullary Ependymomas in a Single-Institute 3-Year Prospective Study. 61
32001405 2020
25
A case of bi-focal mediastinal ependymoma. 61
31983051 2020
26
Utility of copy number variants in the classification of intracranial ependymoma. 61
31794935 2020
27
Personalizing age-specific survival prediction and risk stratification in intracranial grade II/III ependymoma. 61
31793749 2020
28
Subcutaneous sacrococcygeal myxopapillary ependymoma misdiagnosed as pilonidal disease. 61
31900294 2020
29
Characterization of global 5-hydroxymethylcytosine in pediatric posterior fossa ependymoma. 61
31992357 2020
30
Long-term survival of a sacro-coccygeal myxopapillary ependymoma with extra-neural metastases: case report and review of the literature. 61
31989347 2020
31
Chronic Back Pain in a Young Female Patient: A Case of Ependymoma Originating from the Conus Medullaris. 61
31902199 2020
32
Acute and chronic hemorrhage from radiation-induced cavernous malformation associated with late-delayed radiation necrosis in long surviving glioma patients: A case report. 61
31897165 2020
33
A DNA damage multiscale model for NTCP in proton and hadron therapy. 61
31955444 2020
34
Intracranial ependymomas: molecular insights and translation to treatment. 61
31433520 2020
35
Aberrantly expressed microRNAs and their implications in childhood central nervous system tumors. 61
31797180 2019
36
Brainstem Injury in Pediatric Patients Receiving Posterior Fossa Photon Radiation. 61
31472183 2019
37
A phase I study of sirolimus in combination with metronomic therapy (CHOAnome) in children with recurrent or refractory solid and brain tumors. 61
31876107 2019
38
5-ALA fluorescence on tumors different from malignant gliomas. Review of the literature and our experience. 61
31355622 2019
39
Null Cell Adenoma of the Pituitary: Pseudo-rosettes Say It Best When Immunohistochemistry Says Nothing At All! 61
30251033 2019
40
Phase I Clinical Trial of the Wee1 Inhibitor Adavosertib (AZD1775) with Irinotecan in Children with Relapsed Solid Tumors. A COG Phase I Consortium Report (ADVL1312). 61
31857431 2019
41
Edema of the Floor of the Fourth Ventricle Accompanying Shunt Malfunction and Disappearance of It After Shunt Repair: Case Report and Literature Review. 61
31874952 2019
42
The epidemiology of spinal schwannoma in the United States between 2006 and 2014. 61
31881538 2019
43
Application of diffusion-weighted imaging combined with apparent diffusion coefficient in differential diagnosis between central neurocytoma and ependymoma. 61
31853589 2019
44
Genomic Landscape of Intramedullary Spinal Cord Gliomas. 61
31822682 2019
45
Long-Term Surgical Resection Outcomes of Pediatric Myxopapillary Ependymoma: Experience of Two Centers and Brief Literature Review. 61
31899399 2019
46
Identification of biomarkers and construction of a microRNA-mRNA regulatory network for ependymoma using integrated bioinformatics analysis. 61
31788082 2019
47
Monte Carlo study of out-of-field exposure in carbon-ion radiotherapy: Organ doses in pediatric brain tumor treatment. 61
31603561 2019
48
MYCN amplification drives an aggressive form of spinal ependymoma. 61
31414211 2019
49
Psychosis Remitted After Ependymoma Resection in a School-Aged Child. 61
31795806 2019
50
MRI Phenotype of RELA-fused Pediatric Supratentorial Ependymoma. 61
30027327 2019
Sources

Variations for Cellular Ependymoma

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ClinVar genetic disease variations for Cellular Ependymoma:

6 (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MEN1 NM_000244.3(MEN1):c.711dup (p.Lys238fs)duplication Pathogenic 487778 rs1555165565 11:64575111-64575111 11:64807638-64807639
2 NF2 NM_016418.5(NF2):c.551G>A (p.Trp184Ter)SNV Likely pathogenic 487796 rs1555993293 22:30051617-30051617 22:29655628-29655628
3 subset of 76 genes: MEN1 dup(11)(q13.1q13.1)duplication Likely pathogenic 634998 11:63533279-65429676
4 MSH6 NM_001281493.1(MSH6):c.-41_-40delinsAAindel Conflicting interpretations of pathogenicity 89572 rs267608079 2:48025988-48025989 2:47798849-47798850
5 RET NM_020975.6(RET):c.1699G>A (p.Asp567Asn)SNV Conflicting interpretations of pathogenicity 136103 rs147219360 10:43608351-43608351 10:43112903-43112903
6 LATS1 NM_004690.4(LATS1):c.2365G>C (p.Asp789His)SNV Uncertain significance 487797 rs750318192 6:150001239-150001239 6:149680103-149680103
7 MAP4K3 NM_003618.4(MAP4K3):c.899T>C (p.Phe300Ser)SNV Uncertain significance 487798 rs1268580645 2:39552678-39552678 2:39325537-39325537
8 TRAF3 NM_003300.4(TRAF3):c.53C>G (p.Pro18Arg)SNV Uncertain significance 487799 rs145456077 14:103336591-103336591 14:102870254-102870254
9 LETM1 NM_012318.3(LETM1):c.286G>A (p.Val96Met)SNV Uncertain significance 487800 rs753905629 4:1843382-1843382 4:1841655-1841655
10 TXNRD2 NM_006440.5(TXNRD2):c.1432G>C (p.Ala478Pro)SNV Uncertain significance 487801 rs1555906972 22:19865626-19865626 22:19878103-19878103
11 HSD3B2 NM_000198.4(HSD3B2):c.1004G>A (p.Arg335Gln)SNV Uncertain significance 487802 rs985808078 1:119965128-119965128 1:119422505-119422505
12 GLB1 NM_000404.4(GLB1):c.1903G>C (p.Ala635Pro)SNV Uncertain significance 487803 rs1553604701 3:33038668-33038668 3:32997176-32997176
13 MT-ND4 NC_012920.1:m.11032delAdeletion Uncertain significance 487804 rs1556423884 MT:11032-11032 MT:11032-11032
14 SYNE1 NM_182961.4(SYNE1):c.11097C>G (p.Phe3699Leu)SNV Uncertain significance 487805 rs1554520414 6:152674554-152674554 6:152353419-152353419
15 ADGRA2 NM_032777.10(ADGRA2):c.1316_1334del (p.Asn439fs)deletion Uncertain significance 487806 rs1554525957 8:37691223-37691241 8:37833705-37833723
16 CACNG2 NM_006078.4(CACNG2):c.541T>C (p.Tyr181His)SNV Uncertain significance 487807 rs1555892196 22:36960829-36960829 22:36564782-36564782
17 SH3TC2 NM_024577.3(SH3TC2):c.3016del (p.Ser1006fs)deletion Uncertain significance 487808 rs1554121513 5:148406172-148406172 5:149026609-149026609
18 SLC39A11 NM_139177.4(SLC39A11):c.595G>T (p.Val199Phe)SNV Uncertain significance 487809 rs745762301 17:70845779-70845779 17:72849640-72849640
19 TRPM1 NM_001252024.2(TRPM1):c.283A>C (p.Ile95Leu)SNV Uncertain significance 487810 rs1555424877 15:31360292-31360292 15:31068089-31068089
20 RET NM_020975.6(RET):c.1202G>A (p.Ser401Asn)SNV Uncertain significance 620604 rs1564493414 10:43604617-43604617 10:43109169-43109169
21 GON4L NM_032292.6(GON4L):c.2455A>G (p.Asn819Asp)SNV Uncertain significance 487779 rs1553200563 1:155742897-155742897 1:155773106-155773106
22 HDAC3 NM_003883.4(HDAC3):c.50_55+5deldeletion Uncertain significance 487780 rs1554218152 5:141016298-141016308 5:141636731-141636741
23 SETD9 NM_153706.4(SETD9):c.788_796del (p.Ile263_Tyr265del)deletion Uncertain significance 487781 rs1554039146 5:56210766-56210774 5:56914939-56914947
24 BANP NM_079837.3(BANP):c.575A>G (p.Asn192Ser)SNV Uncertain significance 487782 rs1555586650 16:88052070-88052070 16:88018464-88018464
25 SUV39H1 NM_003173.4(SUV39H1):c.415C>T (p.Arg139Cys)SNV Uncertain significance 487783 rs368779259 X:48558731-48558731 X:48700340-48700340
26 TASOR NM_001112736.2(TASOR):c.97G>A (p.Glu33Lys)SNV Uncertain significance 487784 rs1553733337 3:56716938-56716938 3:56682910-56682910
27 POU3F4 NM_000307.5(POU3F4):c.1013C>T (p.Pro338Leu)SNV Uncertain significance 487785 rs1555984638 X:82764345-82764345 X:83509337-83509337
28 PATZ1 NM_014323.3(PATZ1):c.562G>T (p.Asp188Tyr)SNV Uncertain significance 487786 rs1555894069 22:31741027-31741027 22:31345041-31345041
29 KAT6B NM_012330.4(KAT6B):c.3827C>T (p.Pro1276Leu)SNV Uncertain significance 487787 rs1554845417 10:76788409-76788409 10:75028651-75028651
30 KREMEN2 NM_172229.3(KREMEN2):c.494G>T (p.Gly165Val)SNV Uncertain significance 487788 rs1210829529 16:3016650-3016650 16:2966649-2966649
31 DEPDC5 NM_001242897.2(DEPDC5):c.2705G>A (p.Trp902Ter)SNV Uncertain significance 487789 rs1555900957 22:32241141-32241141 22:31845155-31845155
32 NET1 NM_001047160.3(NET1):c.498G>T (p.Glu166Asp)SNV Uncertain significance 487790 rs1554818513 10:5494455-5494455 10:5452492-5452492
33 SPRY3 NM_005840.2(SPRY3):c.55C>T (p.Arg19Cys)SNV Uncertain significance 487791 rs779201129 X:155003588-155003588 X:155773926-155773926
34 VBP1 NM_003372.7(VBP1):c.331C>A (p.Leu111Met)SNV Uncertain significance 487792 rs1000821034 X:154456711-154456711 X:155228429-155228429
35 ARHGAP32 NM_014715.4(ARHGAP32):c.3656C>G (p.Thr1219Ser)SNV Uncertain significance 487793 rs749174548 11:128840363-128840363 11:128970468-128970468
36 OTUD5 NM_017602.4(OTUD5):c.1702C>A (p.Pro568Thr)SNV Uncertain significance 487794 rs1295653938 X:48780465-48780465 X:48923188-48923188
37 KLHL21 NM_014851.4(KLHL21):c.501G>C (p.Glu167Asp)SNV Uncertain significance 487795 rs1292721663 1:6662377-6662377 1:6602317-6602317
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Expression for Cellular Ependymoma

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Search GEO for disease gene expression data for Cellular Ependymoma.
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Pathways for Cellular Ependymoma

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GO Terms for Cellular Ependymoma

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Cellular components related to Cellular Ependymoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.17 RFX4 RFX3 RFX2 RELA OLIG2 MEN1

Biological processes related to Cellular Ependymoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.63 RFX4 RFX3 RFX2 RELA OLIG2 FOXJ1
2 negative regulation of transcription, DNA-templated GO:0045892 9.62 RFX3 RELA MEN1 C11orf95
3 cell projection organization GO:0030030 9.43 RFX2 FOXJ1 CROCC
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.43 RFX4 RFX3 RFX2 RELA MEN1 FOXJ1
5 cilium assembly GO:0060271 8.92 RFX4 RFX3 RFX2 FOXJ1

Molecular functions related to Cellular Ependymoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.8 RFX4 RFX3 RFX2 RELA OLIG2 MEN1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.63 RFX4 RFX3 RFX2 RELA OLIG2 FOXJ1
3 transcription regulatory region DNA binding GO:0044212 9.5 RFX3 RELA MEN1
4 DNA-binding transcription factor activity GO:0003700 9.43 RFX4 RFX3 RFX2 RELA OLIG2 FOXJ1
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.02 RFX4 RFX3 RFX2 RELA FOXJ1
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Sources for Cellular Ependymoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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