MCID: CLL010
MIFTS: 54

Cellular Ependymoma

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cellular Ependymoma

MalaCards integrated aliases for Cellular Ependymoma:

Name: Cellular Ependymoma 12 52 15 71
Ependymoma 52 58 29 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:



External Ids:

Disease Ontology 12 DOID:5500
MeSH 43 D004806
NCIt 49 C4713
ICD10 via Orphanet 33 D43.2
UMLS via Orphanet 72 C0014474
Orphanet 58 ORPHA251636
UMLS 71 C1384403

Summaries for Cellular Ependymoma

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 vomiting

Related Diseases for Cellular Ependymoma

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

(show top 50) (show all 428)
# 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 rela fusion-positive ependymoma 34.0 RELA C11orf95
5 spinal cord ependymoma 33.9 RELA MEN1 C11orf95
6 clear cell ependymoma 32.8 SYP OLIG2 C11orf95
7 juvenile pilocytic astrocytoma 31.0 SYP OLIG2
8 malignant ependymoma 30.6 RELA C11orf95
9 pleomorphic xanthoastrocytoma 30.6 SYP C11orf95
10 central neurocytoma 30.5 SYP OLIG2
11 benign ependymoma 30.4 SYP 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 choroid plexus cancer 30.1 SYP C11orf95
16 spinal cancer 30.1 SYP C11orf95
17 malignant teratoma 30.0 SYP CD99
18 supratentorial primitive neuroectodermal tumor 29.9 SYP OLIG2 CD99
19 lipomatosis, multiple 29.8 MEN1 C11orf95
20 supratentorial cancer 29.5 SYP RELA OLIG2 C11orf95
21 papillary ependymoma 12.6
22 adult brain ependymoma 12.4
23 brain ependymoma 12.3
24 pediatric infratentorial ependymoma 12.3
25 brain stem ependymoma 12.3
26 adult spinal cord ependymoma 12.2
27 malignant adult ependymoma 12.2
28 mixed astrocytoma-ependymoma-oligodendroglioma 12.2
29 mixed astrocytoma-ependymoma 12.2
30 parietal lobe ependymoma 12.1
31 glioma susceptibility 1 11.8
32 neurofibromatosis, type ii 11.6
33 medulloblastoma 11.6
34 diencephalic syndrome 11.5
35 glioma susceptibility 2 11.2
36 glioma susceptibility 3 11.2
37 glioma susceptibility 9 11.2
38 subependymal glioma 11.1
39 astrocytoma 10.7
40 neurilemmoma 10.7
41 neurofibromatosis 10.6
42 oligodendroglioma 10.5
43 teratoma 10.4
44 intracranial hypertension 10.4
45 gastrointestinal neuroendocrine benign tumor 10.4 SYP MEN1
46 gastric neuroendocrine neoplasm 10.4 SYP MEN1
47 pancreatic gastrinoma 10.4 SYP MEN1
48 gastrinoma 10.4 SYP MEN1
49 ependymoblastoma 10.4
50 gastrointestinal neuroendocrine tumor 10.4 SYP MEN1

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



Diseases related to Cellular Ependymoma

Symptoms & Phenotypes for Cellular Ependymoma

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 vomiting 58 Occasional (29-5%)
3 gait disturbance 58 Occasional (29-5%)
4 neoplasm of the lung 58 Very rare (<4-1%)
5 migraine 58 Frequent (79-30%)
6 spinal cord tumor 58 Occasional (29-5%)
7 ovarian neoplasm 58 Very rare (<4-1%)
8 neoplasm of the liver 58 Very rare (<4-1%)
9 distal muscle weakness 58 Occasional (29-5%)
10 neoplasm of the breast 58 Very rare (<4-1%)
11 dysesthesia 58 Occasional (29-5%)
12 pain 58 Frequent (79-30%)
13 abnormal cell morphology 58 Frequent (79-30%)
14 ependymoma 58 Obligate (100%)
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

Drugs & Therapeutics for Cellular Ependymoma

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

(show top 50) (show all 280)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 38904 498142
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 Liver Extracts Phase 3
14 Cholinesterase Inhibitors Phase 3
15 Cholinergic Agents Phase 3
16 Analgesics Phase 3
17 Emetics Phase 3
18 Anesthetics Phase 3
19 Cola Phase 3
20 Narcotics Phase 3
21 Analgesics, Opioid Phase 3
22 Anesthetics, General Phase 3
23 Anesthetics, Intravenous Phase 3
24 Psychotropic Drugs Phase 2, Phase 3
25 Anticonvulsants Phase 2, Phase 3
26 Podophyllotoxin Phase 3 518-28-5
27 Keratolytic Agents Phase 3
28 Neurotransmitter Agents Phase 3
29 Dopamine Agents Phase 3
30 Central Nervous System Stimulants Phase 3
31 Dexmethylphenidate Hydrochloride Phase 3
32 Anti-Allergic Agents Phase 3
33 Histamine H1 Antagonists Phase 3
34
Histamine Phosphate Phase 3 51-74-1 65513
35 Histamine Antagonists Phase 3
36
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
37
Aminolevulinic acid Approved Phase 2 106-60-5 137
38
Mannitol Approved, Investigational Phase 2 69-65-8 6251 453
39
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
40
Pemetrexed Approved, Investigational Phase 2 137281-23-3, 150399-23-8 60843 446556
41
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
42
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
43
Sodium citrate Approved, Investigational Phase 2 68-04-2
44
Tamoxifen Approved Phase 2 10540-29-1 2733526
45
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
46
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
47
Modafinil Approved, Investigational Phase 2 68693-11-8 4236
48
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
49
Aldesleukin Approved Phase 2 85898-30-2, 110942-02-4
50
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865

Interventional clinical trials:

(show top 50) (show all 274)
# 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
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 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
18 SIOP Study of Combined Modality Treatment in Childhood Ependymoma Completed NCT00004224 Phase 2 cyclophosphamide;etoposide;vincristine sulfate
19 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
20 A Phase II Study of Pemetrexed in Children With Recurrent Malignancies Completed NCT00520936 Phase 2 pemetrexed
21 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
22 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
23 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
24 A PHASE II TRIAL OF ETOPOSIDE AND CISPLATIN IN THE TREATMENT OF RECURRENT EPENDYMOMAS Completed NCT00002876 Phase 2 cisplatin;etoposide
25 A Phase II Trial of Continuous Low-Dose Temozolomide for Patients With Recurrent Malignant Glioma Completed NCT00498927 Phase 2 temozolomide
26 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
27 Cisplatin, Doxorubicin and Tamoxifen in the Treatment of Incurable Soft Tissue and Endocrine Malignancies Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
28 Improved Characterization of Brain Tumors By MRI and MRS Completed NCT00274755 Phase 2 chemotherapy
29 A Phase II Trial of Rebeccamycin Analogue (NSC #655649) in Children With Solid Tumors Completed NCT00006102 Phase 2 becatecarin
30 Phase II Treatment of Children With Newly Diagnosed Malignant Central Nervous System Tumors With Temozolomide Prior to Radiation Therapy Completed NCT00005955 Phase 2 temozolomide
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 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
33 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
34 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
35 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
36 A Feasibility Study of Armodafinil for Brain Radiation-Induced Fatigue Completed NCT01032200 Phase 2 Armodafinil
37 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
38 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
39 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
40 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
41 Phase II Study of Phenylacetate in Pediatric Patients With Central Nervous System Tumors Completed NCT00003241 Phase 2 phenylacetate
42 Levetiracetam and Pregabalin for Monotherapy in Patients With Brain Tumors and Seizures. A Phase II Randomized Study. Completed NCT00629889 Phase 2 levetiracetam;pregabalin
43 A Phase II Study of Bevacizumab and Lapatinib in Children With Recurrent or Refractory Ependymoma Completed NCT00883688 Phase 2 Bevacizumab;Lapatinib
44 A Phase II Trial of Intravenous Cereport (RMP-7) and Carboplatin in Childhood Brain Tumors Completed NCT00019422 Phase 2 carboplatin;lobradimil
45 A Phase II Study of Oxaliplatin in Children With Recurrent Solid Tumors Completed NCT00091182 Phase 2 oxaliplatin
46 A Phase II Study of Navelbine (Vinorelbine) In Children With Recurrent Or Refractory Malignancies Completed NCT00003234 Phase 2 vinorelbine tartrate
47 A PHASE II STUDY OF DOCETAXEL (TAXOTERE) (NSC# 628503) IN CHILDREN WITH RECURRENT SOLID TUMORS Completed NCT00002825 Phase 2 docetaxel
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 Bevacizumab and Irinotecan for Patients With Primary Brain Tumors and Progression After Standard Therapy Completed NCT00463203 Phase 2 Bevacizumab;Irinotecan

Search NIH Clinical Center for Cellular Ependymoma

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Carmustine

Genetic Tests for Cellular Ependymoma

Genetic tests related to Cellular Ependymoma:

# Genetic test Affiliating Genes
1 Ependymoma 29

Anatomical Context for Cellular Ependymoma

MalaCards organs/tissues related to Cellular Ependymoma:

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

Publications for Cellular Ependymoma

Articles related to Cellular Ependymoma:

(show top 50) (show all 3715)
# Title Authors PMID Year
1
Serotonin and Dopamine Receptor Expression in Solid Tumours Including Rare Cancers. 61
31478179 2020
2
Risk of being born preterm in offspring of survivors with childhood or adolescent central nervous system tumor in Sweden. 61
31595491 2020
3
Diagnosis: Subcutaneous myxopapillary ependymoma. 61
32147755 2020
4
Diagnosis: subcutaneous myxopapillary ependymoma. 61
32172345 2020
5
Large Cervical Ependymoma: 2-Dimensional Operative Video. 61
32147723 2020
6
TSC2 alterations in anaplastic ependymoma progression to ependymosarcoma. 61
32017698 2020
7
The epigenetics of brain tumors and its modulation during radiation: A review. 61
32553924 2020
8
Role of susceptibility-weighted imaging and intratumoral susceptibility signals in grading and differentiating pediatric brain tumors at 1.5 T: a preliminary study. 61
32140783 2020
9
Patient-derived orthotopic xenografts of pediatric brain tumors: a St. Jude resource. 61
32519082 2020
10
An application of the Toronto Childhood Cancer Stage Guidelines in three population-based cancer registries: The case of central nervous tumors. 61
32301558 2020
11
Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence? 61
32434131 2020
12
Treatment-related calvarial lesions in pediatric brain tumor survivors. 61
32286018 2020
13
Intramedullary Masses of the Spinal Cord: Radiologic-Pathologic Correlation. 61
32530746 2020
14
Anaplastic ependymoma metastases though a ventriculoperitoneal shunt. 61
32280394 2020
15
Metabolic Regulation of the Epigenome Drives Lethal Infantile Ependymoma. 61
32445698 2020
16
Understanding the Deadly Silence of Posterior Fossa A Ependymoma. 61
32559429 2020
17
Hypoxia-Induced Epigenetic Dysregulation Promotes Infantile Ependymoma. 61
32503796 2020
18
Microsurgical Resection of Brain Stem Ependymoma: 2-Dimensional Operative Video. 61
31504845 2020
19
CDKN2A deletion in supratentorial ependymoma with RELA alteration indicates a dismal prognosis: a retrospective analysis of the HIT ependymoma trial cohort. 61
32514758 2020
20
Notch pathway in ependymoma RELA-fused subgroup: upregulation and association with cancer stem cells markers expression. 61
31308481 2020
21
Commentary: Microsurgical Resection of Brain Stem Ependymoma: 2-Dimensional Operative Video. 61
31690933 2020
22
Clinical outcomes in a large pediatric cohort of patients with ependymoma treated with proton radiotherapy. 61
32514542 2020
23
Postoperative radiotherapy for WHO grade II-III intracranial ependymoma in adults: An intergroup collaborative study (KROG 18-06/KNOG 18-01). 61
32502505 2020
24
cIMPACT-NOW update 7: advancing the molecular classification of ependymal tumors. 61
32502305 2020
25
Advances in Diagnostic Immunohistochemistry for Primary Tumors of the Central Nervous System. 61
30720470 2020
26
Brain tumors: Medulloblastoma, ATRT, ependymoma. 61
32386126 2020
27
Locoregional delivery of CAR T cells to the cerebrospinal fluid for treatment of metastatic medulloblastoma and ependymoma. 61
32341580 2020
28
The Role of Predictive Model Based on Quantitative Basic Magnetic Resonance Imaging in Differentiating Medulloblastoma from Ependymoma. 61
32366451 2020
29
Cancer diagnostic profile in children with structural birth defects: An assessment in 15,000 childhood cancer cases. 61
32469081 2020
30
Proton beam therapy utilization in adults with primary brain tumors in the United States. 61
32184042 2020
31
Racial/ethnic Disparities and Survival in Pediatrics with Gliomas Based on the Surveillance Epidemiology and End Results Database in the United States. 61
32492539 2020
32
Peripheral circulation miRNA expression of pediatric brain tumors and its relation to tumor miRNA expression levels. 61
32384264 2020
33
Minimally-invasive Parafascicular Surgical (MIPS) Approach for the Management of a Pediatric Third Ventricular Ependymoma: Case Report and Review of Literature. 61
32387401 2020
34
Primary lumbar paraganglioma: clinical, radiological, surgical and histopathological characteristics from a case series of 13 patients. 61
32454200 2020
35
Pure Endoscopic Supracerebellar Infratentorial Approach to the Pineal Region: A Case Series. 61
32088373 2020
36
Advances in the molecular classification of pediatric brain tumors: a guide to the galaxy. 61
32391583 2020
37
Predicting dysphagia in children undergoing surgery for posterior fossa tumors. 61
31897637 2020
38
Isolated Bilateral Hypoglossal Palsy Complicating a Fourth Ventricle Ependymoma Surgery. 61
32437995 2020
39
Secondary INI1-deficient rhabdoid tumors of the central nervous system: analysis of four cases and literature review. 61
31707588 2020
40
Short-term outcome following surgery for rare brain tumor entities in adults: a Swedish nation-wide registry-based study and comparison with SEER database. 61
32424575 2020
41
A Pain in the Neck - A Case of Intramedullary Spinal Ependymoma. 61
32523838 2020
42
Repeated gamma knife radiosurgery enables longer tumor control in cases of highly-recurrent intracranial ependymoma. 61
32405998 2020
43
Microsurgical Resection of an Intramedullary Ependymoma at the Cervicomedullary Junction: A 2-Dimensional Operative Video. 61
32479907 2020
44
Poor Prognostic Factors for Surgical Treatment of Spinal Intramedullary Ependymoma (World Health Organization Grade II). 61
32460467 2020
45
Radiology profile as a potential instrument to differentiate between posterior fossa ependymoma (PF-EPN) group A and B. 61
32428725 2020
46
YAP1/TAZ drives ependymoma-like tumour formation in mice. 61
32404936 2020
47
Pigmented Ependymoma of the Fourth Ventricle-A Curious Entity: Report of a Rare Case With Review of Literature. 61
32450730 2020
48
Intramedullary spinal cord tumours - a single Centre, 10-year review of clinical and pathological outcomes. 61
32441154 2020
49
Is H3K27me3 status really a strong prognostic indicator for pediatric posterior fossa ependymomas? A single surgeon, single center experience. 61
32025869 2020
50
Poor academic performance in offspring of survivors with childhood or adolescent central nervous system tumor in Sweden. 61
32363584 2020

Variations for Cellular Ependymoma

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_001370259.2(MEN1):c.696dup (p.Lys233fs)duplication Pathogenic 487778 rs1555165565 11:64575111-64575111 11:64807638-64807639
2 NF2 NM_000268.4(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_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)indel 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

Expression for Cellular Ependymoma

Search GEO for disease gene expression data for Cellular Ependymoma.

Pathways for Cellular Ependymoma

GO Terms for Cellular Ependymoma

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 9.73 RFX4 RFX3 RFX2 RELA OLIG2 FOXJ1
2 negative regulation of transcription, DNA-templated GO:0045892 9.67 RFX3 RELA MEN1 C11orf95
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.63 RFX4 RFX3 RFX2 RELA MEN1 FOXJ1
4 cell projection organization GO:0030030 9.5 RFX2 FOXJ1 CROCC
5 ciliary basal body organization GO:0032053 8.96 FOXJ1 CROCC
6 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 9.87 RFX4 RFX3 RFX2 RELA OLIG2 MEN1
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.67 RFX4 RFX2 RELA FOXJ1
3 transcription regulatory region DNA binding GO:0044212 9.58 RFX3 RELA MEN1
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.56 RFX3 RELA MEN1 FOXJ1
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.55 RFX4 RFX3 RFX2 RELA FOXJ1
6 DNA-binding transcription factor activity GO:0003700 9.43 RFX4 RFX3 RFX2 RELA OLIG2 FOXJ1
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.1 RFX4 RFX3 RFX2 RELA OLIG2 FOXJ1

Sources for Cellular Ependymoma

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
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