MCID: CLL010
MIFTS: 58

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 20 15 70
Ependymoma 20 58 29 54 6 17 70
Tanycytic Ependymoma 20 70
Papillary Ependymoma 20 70
Classic Ependymoma 20 58
Who Grade Ii Ependymal Neoplasm 20
Epithelial Ependymoma 20
Clear Cell Ependymoma 20
Ependymoma, Familial 20

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:5500
MeSH 44 D004806
NCIt 50 C4713
SNOMED-CT 67 253067007
ICD10 via Orphanet 33 D43.2
UMLS via Orphanet 71 C0014474
Orphanet 58 ORPHA251636
UMLS 70 C0014474 C0334578 C1370500 more

Summaries for Cellular Ependymoma

GARD : 20 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.

MalaCards based summary : Cellular Ependymoma, also known as ependymoma, is related to rela fusion-positive ependymoma and pediatric supratentorial ependymoma. An important gene associated with Cellular Ependymoma is MEN1 (Menin 1), and among its related pathways/superpathways are Neuroscience and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Etoposide and Thiotepa have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and pituitary, and related phenotypes are ependymoma and migraine

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 583)
# Related Disease Score Top Affiliating Genes
1 rela fusion-positive ependymoma 32.7 ZFTA RELA
2 pediatric supratentorial ependymoma 32.5 ZFTA RELA
3 spinal cord ependymoma 32.5 ZFTA NF2 MEN1
4 supratentorial ependymoma 32.5 ZFTA RELA
5 pediatric ependymoma 32.3 ZFTA RELA NF2 MEN1
6 tanycytic ependymoma 32.1 ZFTA SYP RELA NF2 MEN1 GFAP
7 papillary ependymoma 32.0 SYP S100B NF2 MEN1 GFAP
8 high grade ependymoma 31.2 ZFTA RELA NF2 MGMT GFAP EGFR
9 clear cell ependymoma 31.0 ZFTA VIM SYP NF2 MUC1 MEN1
10 cauda equina syndrome 30.7 SYP GFAP
11 central neurocytoma 30.6 SYP NES GFAP
12 teratoma 30.5 SYP NES GFAP
13 secretory meningioma 30.3 VIM NF2 MUC1
14 obstructive hydrocephalus 30.3 SYP NF2 GFAP
15 benign ependymoma 30.3 ZFTA SYP NF2 GFAP
16 pineal gland cancer 30.2 SYP GFAP
17 diffuse astrocytoma 30.1 MGMT GFAP EGFR
18 oligodendroglioma 30.1 SYP S100B MGMT GFAP EGFR
19 gangliocytoma 30.0 SYP GFAP
20 pilocytic astrocytoma 30.0 SYP S100B NES MGMT GFAP
21 neurilemmoma 30.0 VIM S100B NF2 NES MUC1 GFAP
22 ependymoblastoma 30.0 VIM SYP NES GFAP
23 ganglioglioma 30.0 SYP S100B NES GFAP
24 carcinoid syndrome 29.9 SYP MEN1
25 oligoastrocytoma 29.9 MGMT GFAP
26 angiocentric glioma 29.9 VIM SYP S100B GFAP
27 papillary tumor of the pineal region 29.9 VIM SYP MUC1
28 choroid plexus cancer 29.8 ZFTA SYP GFAP
29 gemistocytic astrocytoma 29.8 S100B GFAP
30 pleomorphic xanthoastrocytoma 29.8 SYP S100B MGMT GFAP
31 spinal cord disease 29.7 SYP NF2 GFAP
32 hydromyelia 29.7 VIM S100B
33 glioblastoma 29.7 NES MGMT HOTAIR GFAP EGFR
34 rhabdoid meningioma 29.7 VIM SYP NF2 GFAP
35 mucinous adenocarcinoma 29.7 VIM MUC1 EGFR
36 hydrocephalus 29.7 SYP S100B NES GFAP
37 pineocytoma 29.7 SYP S100B LINC01194 GFAP
38 subependymoma 29.7 SYP NES NCAM1 GFAP
39 neuroendocrine tumor 29.6 SYP NCAM1 MEN1
40 leukoencephalopathy, hereditary diffuse, with spheroids 29.6 SYP S100B GFAP
41 ovarian small cell carcinoma 29.6 SYP S100B MUC1
42 embryonal sarcoma 29.6 VIM S100B
43 spinal cancer 29.6 ZFTA SYP NF2 GFAP
44 large cell medulloblastoma 29.6 VIM SYP
45 papilloma of choroid plexus 29.6 SYP S100B MUC1 LINC01194 GFAP
46 hemangioblastoma 29.5 VIM SYP S100B MUC1 GFAP EGFR
47 rhabdoid cancer 29.5 VIM SYP NF2 MUC1
48 adenoma 29.5 SYP MUC1 MGMT MEN1
49 gliofibroma 29.5 SYP MGMT GFAP
50 benign mesothelioma 29.5 VIM NF2 LINC01194

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 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ependymoma 58 31 obligate (100%) Obligate (100%) HP:0002888
2 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
3 pain 58 31 frequent (33%) Frequent (79-30%) HP:0012531
4 abnormal cell morphology 58 31 frequent (33%) Frequent (79-30%) HP:0025461
5 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
6 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
7 spinal cord tumor 58 31 occasional (7.5%) Occasional (29-5%) HP:0010302
8 distal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002460
9 dysesthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012534
10 supratentorial neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0030693
11 seizure 31 occasional (7.5%) HP:0001250
12 neoplasm of the lung 58 31 very rare (1%) Very rare (<4-1%) HP:0100526
13 ovarian neoplasm 58 31 very rare (1%) Very rare (<4-1%) HP:0100615
14 neoplasm of the liver 58 31 very rare (1%) Very rare (<4-1%) HP:0002896
15 neoplasm of the breast 58 31 very rare (1%) Very rare (<4-1%) HP:0100013
16 seizures 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Cellular Ependymoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.35 NF2 VIM
2 Decreased cell migration GR00055-A-2 9.35 NCAM1
3 Decreased cell migration GR00055-A-3 9.35 EGFR NCAM1
4 Increased proliferation GR00094-A 8.62 MEN1 NF2

Drugs & Therapeutics for Cellular Ependymoma

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

(show top 50) (show all 181)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
2
Thiotepa Approved, Investigational Phase 2, Phase 3 52-24-4 5453
3
Valproic acid Approved, Investigational Phase 2, Phase 3 99-66-1 3121
4
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
5
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
6
Trofosfamide Investigational Phase 2, Phase 3 22089-22-1
7 Etoposide phosphate Phase 2, Phase 3
8 Psychotropic Drugs Phase 2, Phase 3
9 Anticonvulsants Phase 2, Phase 3
10 Tubulin Modulators Phase 3
11 Antimitotic Agents Phase 3
12 Keratolytic Agents Phase 3
13 Podophyllotoxin Phase 3 518-28-5
14
Mesna Approved, Investigational Phase 2 3375-50-6 598
15
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
16
Pemetrexed Approved, Investigational Phase 2 150399-23-8, 137281-23-3 446556 60843
17
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 6857599 43805
18
Lomustine Approved, Investigational Phase 2 13010-47-4 3950
19
Ivosidenib Approved, Investigational Phase 2 1448347-49-6 71657455
20
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
21
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
22
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
23 Fenofibric acid Approved Phase 2 42017-89-0
24
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
25
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
26
Mebendazole Approved, Vet_approved Phase 2 31431-39-7 4030
27
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5005498 5330286
28
Piperazine Approved, Vet_approved Phase 2 110-85-0 4837
29
Olaparib Approved Phase 2 763113-22-0 23725625
30
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
31
Memantine Approved, Investigational Phase 2 19982-08-2 4054
32
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
33
Vinblastine Approved Phase 2 865-21-4 13342 241903
34
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
35
nivolumab Approved Phase 1, Phase 2 946414-94-4
36
Iodine Approved, Investigational Phase 2 7553-56-2 807
37
carbamide peroxide Approved Phase 2 124-43-6
38
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
39
Bevacizumab Approved, Investigational Phase 2 216974-75-3
40
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
41
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
42
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
43
Lopinavir Approved Phase 2 192725-17-0 92727
44
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
45
Tryptophan Approved, Nutraceutical, Withdrawn Phase 2 73-22-3 6305
46
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
47
Methionine Approved, Nutraceutical Phase 2 63-68-3 6137
48
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
49
tipifarnib Investigational Phase 2 192185-72-1 159324
50
Ensartinib Investigational Phase 2 1370651-20-9

Interventional clinical trials:

(show top 50) (show all 149)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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
5 Phase II Study of High-Dose Methotrexate in Children With Residual Ependymoma Unknown status NCT00287924 Phase 2 methotrexate
6 Phase II Study of Intravenous Etoposide in Patients With Relapsed Ependymoma Unknown status NCT00278252 Phase 2 etoposide
7 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
8 Bevacizumab and Irinotecan for Patients With Primary Brain Tumors and Progression After Standard Therapy Completed NCT00463203 Phase 2 Bevacizumab;Irinotecan
9 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
10 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
11 A Phase II Study of Bevacizumab and Lapatinib in Children With Recurrent or Refractory Ependymoma Completed NCT00883688 Phase 2 Bevacizumab;Lapatinib
12 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
13 SIOP Study of Combined Modality Treatment in Childhood Ependymoma Completed NCT00004224 Phase 2 cyclophosphamide;etoposide;vincristine sulfate
14 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
15 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
16 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
17 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
18 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
19 A PHASE II TRIAL OF ETOPOSIDE AND CISPLATIN IN THE TREATMENT OF RECURRENT EPENDYMOMAS Completed NCT00002876 Phase 2 cisplatin;etoposide
20 Proton Radiation for Low Grade Gliomas Completed NCT01024907 Phase 1, Phase 2
21 A Randomized Phase II Trial of Bevacizumab to Control Brain Radiation Damage Completed NCT00492089 Phase 2 bevacizumab;placebo
22 A Phase II Study of Pemetrexed in Children With Recurrent Malignancies Completed NCT00520936 Phase 2 pemetrexed
23 Phase II Trial of Bevacizumab in Patients With Recurrent or Progressive Meningiomas Completed NCT01125046 Phase 2
24 A Phase II Study of Oxaliplatin in Children With Recurrent Solid Tumors Completed NCT00091182 Phase 2 oxaliplatin
25 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
26 Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 (INTUITT-NF2) Recruiting NCT04374305 Phase 2 Brigatinib
27 Phase 2 Trial of Indoximod With Chemotherapy and Radiation for Children With Progressive Brain Tumors or Newly Diagnosed DIPG Recruiting NCT04049669 Phase 2 Indoximod;Indoximod;Temozolomide;Cyclophosphamide;Etoposide;Lomustine
28 A Phase 2 Study of Abemaciclib in Patients With Recurrent Brain Tumors Recruiting NCT03220646 Phase 2 abemaciclib;abemaciclib
29 Phase II Clinical Trial of Marizomib for Recurrent Low-Grade and Anaplastic Supratentorial, Infratentorial and Spinal Cord Ependymoma Recruiting NCT03727841 Phase 2 Marizomib
30 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of AG-120 (Ivosidenib) in Patients With Tumors Harboring IDH1 Mutations Recruiting NCT04195555 Phase 2 Ivosidenib
31 Phase II Trial of Carboplatin and Bevacizumab for the Treatment of Recurrent Low-Grade and Anaplastic Supratentorial, Infratentorial and Spinal Cord Ependymoma in Adults: A Multi-Center Trial Recruiting NCT01295944 Phase 2 Carboplatin;Bevacizumab
32 A Phase II Study of Metronomic and Targeted Anti-angiogenesis Therapy for Children With Recurrent/Progressive Medulloblastoma, Ependymoma and ATRT Recruiting NCT01356290 Phase 2 Bevacizumab;Thalidomide;Celecoxib;Fenofibric acid;Etoposide;Cyclophosphamide;Etoposide phosphate;Cytarabine
33 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of BVD-523FB (Ulixertinib) in Patients With Tumors Harboring Activating MAPK Pathway Mutations Recruiting NCT03698994 Phase 2 Ulixertinib
34 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Tipifarnib in Patients With Tumors Harboring HRAS Genomic Alterations Recruiting NCT04284774 Phase 2 Tipifarnib
35 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of LOXO-292 in Patients With Tumors Harboring RET Gene Alterations Recruiting NCT04320888 Phase 2 Selpercatinib
36 Methionine PET/CT Studies In Patients With Cancer Recruiting NCT00840047 Phase 2 Methionine
37 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of Palbociclib in Patients With Tumors Harboring Activating Alterations in Cell Cycle Genes Recruiting NCT03526250 Phase 2 Palbociclib
38 Phase II Trial of the Immune Checkpoint Inhibitor Nivolumab in Patients With Recurrent Select Rare CNS Cancers Recruiting NCT03173950 Phase 2 Nivolumab
39 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Olaparib in Patients With Tumors Harboring Defects in DNA Damage Repair Genes Recruiting NCT03233204 Phase 2 Olaparib
40 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Vemurafenib in Patients With Tumors Harboring BRAF V600 Mutations Recruiting NCT03220035 Phase 2 Vemurafenib
41 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of LOXO-101 (Larotrectinib) in Patients With Tumors Harboring Actionable NTRK Fusions Recruiting NCT03213704 Phase 2 Larotrectinib;Larotrectinib Sulfate
42 NCI-COG Pediatric MATCH (Molecular Analysis For Therapy Choice)- Phase 2 Subprotocol of LY3023414 in Patients With Solid Tumors Recruiting NCT03213678 Phase 2 Samotolisib
43 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice)- Phase 2 Subprotocol of Ensartinib in Patients With Tumors Harboring ALK or ROS1 Genomic Alterations Recruiting NCT03213652 Phase 2 Ensartinib
44 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) - Phase 2 Subprotocol of JNJ-42756493 (Erdafitinib) in Patients With Tumors Harboring FGFR1/2/3/4 Alterations Recruiting NCT03210714 Phase 2 Erdafitinib
45 Memantine for Prevention of Cognitive Late Effects in Pediatric Patients Receiving Cranial Radiation Therapy for Localized Brain Tumors: A Pilot Study Recruiting NCT03194906 Phase 2 Memantine
46 NCI-COG Pediatric MATCH (Molecular Analysis for Therapy Choice) Screening Protocol Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;Samotolisib;Selpercatinib;Selumetinib Sulfate;Tazemetostat;Tipifarnib;Ulixertinib;Vemurafenib
47 Phase 2 Trial of Selumetinib in Patients With Neurofibromatosis Type II Related Tumors Recruiting NCT03095248 Phase 2 Selumetinib
48 A Phase II Study of Image-Guided Radiation Therapy for Pediatric CNS Tumors and Quantification of Radiation-Related CNS Effects Active, not recruiting NCT00187226 Phase 2
49 Phase II Study of Everolimus (RAD001, Afinitor®) for Children With Recurrent or Progressive Ependymoma Active, not recruiting NCT02155920 Phase 2 Everolimus
50 A Phase II Trial of Surgery and Fractionated Re-Irradiation for Recurrent Ependymoma Active, not recruiting NCT02125786 Phase 2 ^1^8F-Fluorodeoxyglucose;^1^1C-methionine

Search NIH Clinical Center for Cellular Ependymoma

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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
Spinal Cord, Brain, Pituitary, Pineal, Lung, Breast, Endothelial

Publications for Cellular Ependymoma

Articles related to Cellular Ependymoma:

(show top 50) (show all 3938)
# Title Authors PMID Year
1
Promoter methylation and expression analysis of MGMT in advanced pediatric brain tumors. 61 54
19724855 2009
2
Podoplanin is a potential marker for the diagnosis of ependymoma: a comparative study with epithelial membrane antigen (EMA). 54 61
19788053 2009
3
[Expression of epidermal growth factor receptor and Ki-67 antigen in brain ependymoma and the correlation between them]. 61 54
19257969 2008
4
EGFR tyrosine kinase inhibition radiosensitizes and induces apoptosis in malignant glioma and childhood ependymoma xenografts. 61 54
18386816 2008
5
Olig2 and CD99 are useful negative markers for the diagnosis of brain tumors. 61 54
18552083 2008
6
Nestin expression in different tumours and its relevance to malignant grade. 61 54
17873113 2008
7
Immunohistochemical study of CD99 and EMA expression in ependymomas. 54 61
18382710 2008
8
Frequent but borderline methylation of p16 (INK4a) and TIMP3 in medulloblastoma and sPNET revealed by quantitative analyses. 54 61
17206475 2007
9
New immunohistochemical markers in the evaluation of central nervous system tumors: a review of 7 selected adult and pediatric brain tumors. 54 61
17284108 2007
10
Immunohistochemical profile and chromosomal imbalances in papillary tumours of the pineal region. 54 61
16640646 2006
11
p53 Pathway dysfunction in primary childhood ependymomas. 54 61
16086408 2006
12
Identification of gains on 1q and epidermal growth factor receptor overexpression as independent prognostic markers in intracranial ependymoma. 54 61
16609018 2006
13
Methylation of RASSF1A and TRAIL pathway-related genes is frequent in childhood intracranial ependymomas and benign choroid plexus papilloma. 54 61
16616114 2006
14
Survivin expression in intracranial ependymomas and its correlation with tumor cell proliferation and patient outcome. 61 54
16146813 2005
15
Epigenetic inactivation of the RASSF1A tumour suppressor gene in ependymoma. 54 61
16051033 2005
16
A PDGFRA promoter polymorphism, which disrupts the binding of ZNF148, is associated with primitive neuroectodermal tumours and ependymomas. 54 61
15635072 2005
17
Light microscopic demonstration of the microlumen of ependymoma: a study of the usefulness of antigen retrieval for epithelial membrane antigen (EMA) immunostaining. 61 54
15696964 2004
18
Sensitivity and specificity of epithelial membrane antigen staining patterns in ependymomas. 61 54
12898159 2003
19
March 2003: a 41 -year-old female with a solitary lesion in the liver. 54 61
12946033 2003
20
Complex cytogenetic abnormalities including telomeric associations and MEN1 mutation in a pediatric ependymoma. 61 54
12505253 2002
21
The expression of p73, p21 and MDM2 proteins in gliomas. 54 61
12241107 2002
22
Immunohistochemical markers for prognosis of ependymal neoplasms. 61 54
12187959 2002
23
Differential involvement of protein 4.1 family members DAL-1 and NF2 in intracranial and intraspinal ependymomas. 54 61
12011257 2002
24
Analysis of the NF2 gene in oligodendrogliomas and ependymomas. 54 61
11996787 2002
25
p14ARF protein (FL-132) immunoreactivity in intracranial ependymomas and its prognostic significance: an analysis of 103 cases. 61 54
11585252 2001
26
Telomerase activity and expression of telomerase reverse transcriptase correlated with cell proliferation in meningiomas and malignant brain tumors in vivo. 61 54
11561758 2001
27
Mutation analysis of the p73 gene in nonastrocytic brain tumours. 54 61
11461077 2001
28
Molecular genetic alterations on chromosomes 11 and 22 in ependymomas. 61 54
11275983 2001
29
Immunohistochemical markers for intracranial ependymoma recurrence. An analysis of 88 cases. 61 54
10967185 2000
30
Receptor-mediated endocytosis of transthyretin by ependymoma cells. 54 61
10869517 2000
31
The immunophenotype of ependymomas. 61 54
10937045 2000
32
Low frequency of SV40, JC and BK polyomavirus sequences in human medulloblastomas, meningiomas and ependymomas. 61 54
10668898 2000
33
Ovarian ependymoma. A case report. 61 54
10982025 2000
34
Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter-22q11.2. 54 61
10584875 1999
35
Expression of the simian virus 40 large tumor antigen (Tag) and formation of Tag-p53 and Tag-pRb complexes in human brain tumors. 54 61
10570441 1999
36
Atypical central neurocytoma: report of a case. 61 54
10502912 1999
37
Cerebellar papillary meningioma in a 3-year-old boy: the usefulness of electron microscopy for diagnosis. 61 54
10403309 1999
38
Molecular genetic analysis of non-astrocytic gliomas. 61 54
10231401 1999
39
Signet-ring cell ependymoma: case report with implications for pathogenesis and differential diagnosis. 61 54
10631722 1999
40
Tissue culture of human neurocytomas induces the expression of glial fibrilary acidic protein. 61 54
10451427 1998
41
O6-Methylguanine-DNA methyltransferase protein levels in pediatric brain tumors. 61 54
9815647 1997
42
Expression of telomerase RNA component correlates with the MIB-1 proliferation index in ependymomas. 54 61
9329458 1997
43
Paraganglioma of the cauda equina. A case report and review of the literature. 54 61
8611199 1996
44
The ultrastructure of ependymoma: personal experience and the review of the literature. 54 61
9812425 1996
45
Loss of heterozygosity on chromosome 10, 13q(Rb), 17p, and p53 gene mutations in human brain gliomas. 61 54
8924230 1995
46
Ki-67 immunoreactivity in human central nervous system tumors: a study with MIB 1 monoclonal antibody on archival material. 54 61
7511316 1994
47
Expression of non-glial intermediate filament proteins in gliomas. 54 61
7518371 1994
48
Cauda equina tumor with ependymal and paraganglionic differentiation. 61 54
1612583 1992
49
Epidermal growth factor receptor in human brain tumors. 54 61
1560188 1992
50
[Immunohistochemical study for choroid plexus papillomas and ependymomas]. 61 54
1726244 1991

Variations for Cellular Ependymoma

ClinVar genetic disease variations for Cellular Ependymoma:

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MEN1 NM_001370259.2(MEN1):c.696dup (p.Lys233fs) Duplication Pathogenic 487778 rs1555165565 GRCh37: 11:64575111-64575111
GRCh38: 11:64807638-64807639
2 NF2 NM_000268.4(NF2):c.551G>A (p.Trp184Ter) SNV Likely pathogenic 487796 rs1555993293 GRCh37: 22:30051617-30051617
GRCh38: 22:29655628-29655628
3 overlap with 76 genes dup(11)(q13.1q13.1) Duplication Likely pathogenic 634998 GRCh37: 11:63533279-65429676
GRCh38:
4 HSD3B2 NM_000198.4(HSD3B2):c.1004G>A (p.Arg335Gln) SNV Uncertain significance 487802 rs985808078 GRCh37: 1:119965128-119965128
GRCh38: 1:119422505-119422505
5 TRAF3 NM_003300.4(TRAF3):c.53C>G (p.Pro18Arg) SNV Uncertain significance 487799 rs145456077 GRCh37: 14:103336591-103336591
GRCh38: 14:102870254-102870254
6 GON4L NM_032292.6(GON4L):c.2455A>G (p.Asn819Asp) SNV Uncertain significance 487779 rs1553200563 GRCh37: 1:155742897-155742897
GRCh38: 1:155773106-155773106
7 ARHGAP32 NM_014715.4(ARHGAP32):c.3656C>G (p.Thr1219Ser) SNV Uncertain significance 487793 rs749174548 GRCh37: 11:128840363-128840363
GRCh38: 11:128970468-128970468
8 NET1 NM_001047160.3(NET1):c.498G>T (p.Glu166Asp) SNV Uncertain significance 487790 rs1554818513 GRCh37: 10:5494455-5494455
GRCh38: 10:5452492-5452492
9 CACNG2 NM_006078.4(CACNG2):c.541T>C (p.Tyr181His) SNV Uncertain significance 487807 rs1555892196 GRCh37: 22:36960829-36960829
GRCh38: 22:36564782-36564782
10 TRPM1 NM_001252024.2(TRPM1):c.283A>C (p.Ile95Leu) SNV Uncertain significance 487810 rs1555424877 GRCh37: 15:31360292-31360292
GRCh38: 15:31068089-31068089
11 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3827C>T (p.Pro1276Leu) SNV Uncertain significance 487787 rs1554845417 GRCh37: 10:76788409-76788409
GRCh38: 10:75028651-75028651
12 TXNRD2 NM_006440.5(TXNRD2):c.1432G>C (p.Ala478Pro) SNV Uncertain significance 487801 rs1555906972 GRCh37: 22:19865626-19865626
GRCh38: 22:19878103-19878103
13 SETD9 NM_153706.4(SETD9):c.788_796del (p.Ile263_Tyr265del) Deletion Uncertain significance 487781 rs1554039146 GRCh37: 5:56210766-56210774
GRCh38: 5:56914939-56914947
14 MT-ND4 NC_012920.1:m.11032delA Deletion Uncertain significance 487804 rs1556423884 GRCh37: MT:11032-11032
GRCh38: MT:11032-11032
15 TASOR NM_001365635.2(TASOR):c.97G>A (p.Glu33Lys) SNV Uncertain significance 487784 rs1553733337 GRCh37: 3:56716938-56716938
GRCh38: 3:56682910-56682910
16 VBP1 NM_003372.7(VBP1):c.331C>A (p.Leu111Met) SNV Uncertain significance 487792 rs1000821034 GRCh37: X:154456711-154456711
GRCh38: X:155228429-155228429
17 KLHL21 NM_014851.4(KLHL21):c.501G>C (p.Glu167Asp) SNV Uncertain significance 487795 rs1292721663 GRCh37: 1:6662377-6662377
GRCh38: 1:6602317-6602317
18 MAP4K3 NM_003618.4(MAP4K3):c.899T>C (p.Phe300Ser) SNV Uncertain significance 487798 rs1268580645 GRCh37: 2:39552678-39552678
GRCh38: 2:39325537-39325537
19 KREMEN2 NM_172229.3(KREMEN2):c.494G>T (p.Gly165Val) SNV Uncertain significance 487788 rs1210829529 GRCh37: 16:3016650-3016650
GRCh38: 16:2966649-2966649
20 POU3F4 NM_000307.5(POU3F4):c.1013C>T (p.Pro338Leu) SNV Uncertain significance 487785 rs1555984638 GRCh37: X:82764345-82764345
GRCh38: X:83509337-83509337
21 SYNE1 NM_182961.4(SYNE1):c.11097C>G (p.Phe3699Leu) SNV Uncertain significance 487805 rs1554520414 GRCh37: 6:152674554-152674554
GRCh38: 6:152353419-152353419
22 BANP NM_079837.3(BANP):c.575A>G (p.Asn192Ser) SNV Uncertain significance 487782 rs1555586650 GRCh37: 16:88052070-88052070
GRCh38: 16:88018464-88018464
23 SH3TC2 NM_024577.3(SH3TC2):c.3016del (p.Ser1006fs) Deletion Uncertain significance 487808 rs1554121513 GRCh37: 5:148406172-148406172
GRCh38: 5:149026609-149026609
24 SPRY3 NM_005840.2(SPRY3):c.55C>T (p.Arg19Cys) SNV Uncertain significance 487791 rs779201129 GRCh37: Y:59106594-59106594
GRCh38: X:155773926-155773926
25 OTUD5 NM_001136157.2(OTUD5):c.1687C>A (p.Pro563Thr) SNV Uncertain significance 487794 rs1295653938 GRCh37: X:48780465-48780465
GRCh38: X:48923188-48923188
26 GLB1 NM_000404.4(GLB1):c.1903G>C (p.Ala635Pro) SNV Uncertain significance 487803 rs1553604701 GRCh37: 3:33038668-33038668
GRCh38: 3:32997176-32997176
27 HDAC3 NM_003883.4(HDAC3):c.50_55+5del Deletion Uncertain significance 487780 rs1554218152 GRCh37: 5:141016298-141016308
GRCh38: 5:141636731-141636741
28 LETM1 NM_012318.3(LETM1):c.286G>A (p.Val96Met) SNV Uncertain significance 487800 rs753905629 GRCh37: 4:1843382-1843382
GRCh38: 4:1841655-1841655
29 LATS1 NM_004690.4(LATS1):c.2365G>C (p.Asp789His) SNV Uncertain significance 487797 rs750318192 GRCh37: 6:150001239-150001239
GRCh38: 6:149680103-149680103
30 ADGRA2 NM_032777.10(ADGRA2):c.1316_1334del (p.Asn439fs) Deletion Uncertain significance 487806 rs1554525957 GRCh37: 8:37691223-37691241
GRCh38: 8:37833705-37833723
31 SUV39H1 NM_003173.4(SUV39H1):c.415C>T (p.Arg139Cys) SNV Uncertain significance 487783 rs368779259 GRCh37: X:48558731-48558731
GRCh38: X:48700340-48700340
32 SLC39A11 NM_139177.4(SLC39A11):c.595G>T (p.Val199Phe) SNV Uncertain significance 487809 rs745762301 GRCh37: 17:70845779-70845779
GRCh38: 17:72849640-72849640
33 DEPDC5 NM_001242897.2(DEPDC5):c.2705G>A (p.Trp902Ter) SNV Uncertain significance 487789 rs1555900957 GRCh37: 22:32241141-32241141
GRCh38: 22:31845155-31845155
34 PATZ1 NM_014323.3(PATZ1):c.562G>T (p.Asp188Tyr) SNV Uncertain significance 487786 rs1555894069 GRCh37: 22:31741027-31741027
GRCh38: 22:31345041-31345041
35 RET NM_020975.6(RET):c.1202G>A (p.Ser401Asn) SNV Uncertain significance 620604 rs1564493414 GRCh37: 10:43604617-43604617
GRCh38: 10:43109169-43109169

Copy number variations for Cellular Ependymoma from CNVD:

7 (show top 50) (show all 1024)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13823 1 1 7200000 Deletion Ependymoma
2 15495 1 116080654 116108285 Amplification NHLH2 Ependymoma
3 15648 1 117745152 117779348 Deletion MAN1A2 Ependymoma
4 19381 1 150034000 245120000 Amplification Ependymoma
5 19382 1 150034000 245120000 Amplification Ependymoma
6 26308 1 198898833 198920273 Amplification LGR6 Ependymoma
7 31595 1 2869431 2902617 Amplification TLR5 Ependymoma
8 31803 1 3118000 5001000 Deletion Ependymoma
9 38299 10 101279725 101300855 Deletion Ependymoma
10 38453 10 102724768 102752246 Deletion LZTS2 Ependymoma
11 38454 10 102724768 102752246 Deletion MRPL43 Ependymoma
12 38455 10 102724768 102752246 Deletion TWNK Ependymoma
13 38456 10 102724768 102752246 Deletion SEMA4G Ependymoma
14 38866 10 105634726 105742493 Deletion STN1 Ependymoma
15 38867 10 105634726 105742493 Deletion SLK Ependymoma
16 38979 10 106855945 106907237 Deletion SORCS3 Ependymoma
17 39169 10 11151805 11236375 Deletion CELF2 Ependymoma
18 40763 10 13344307 13497936 Deletion PHYH Ependymoma
19 40764 10 13344307 13497936 Deletion SEPHS1 Ependymoma
20 40806 10 133827559 133847021 Amplification JAKMIP3 Ependymoma
21 40809 10 133852261 133910912 Deletion DPYSL4 Ependymoma
22 40810 10 133852261 133910912 Deletion STK32C Ependymoma
23 40887 10 134410586 134892955 Deletion CFAP46 Ependymoma
24 40888 10 134410586 134892955 Deletion CFAP46 Ependymoma
25 40889 10 134410586 134892955 Deletion ADGRA1 Ependymoma
26 40890 10 134410586 134892955 Deletion INPP5A Ependymoma
27 40891 10 134410586 134892955 Deletion KNDC1 Ependymoma
28 40892 10 134410586 134892955 Deletion Ependymoma
29 41033 10 135073302 135095235 Amplification ECHS1 Ependymoma
30 41034 10 135073302 135095235 Amplification PAOX Ependymoma
31 41074 10 135176625 135276748 Deletion CYP2E1 Ependymoma
32 41075 10 135176625 135276748 Deletion SPRNP1 Ependymoma
33 41076 10 135176625 135276748 Deletion SYCE1 Ependymoma
34 41910 10 25665327 25756077 Deletion GPR158 Ependymoma
35 42307 10 3169189 3180797 Deletion PITRM1 Ependymoma
36 44077 10 5175582 5187881 Deletion AKR1C8P Ependymoma
37 44224 10 53651276 53712562 Deletion PRKG1 Ependymoma
38 44704 10 6170011 6268419 Deletion RBM17 Ependymoma
39 45199 10 68970214 69114993 Deletion CTNNA3 Ependymoma
40 45273 10 69645873 69701073 Deletion ATOH7 Ependymoma
41 45408 10 70846341 70896472 Deletion TSPAN15 Ependymoma
42 45468 10 71234506 71351772 Deletion COL13A1 Ependymoma
43 45538 10 71990162 72295747 Deletion ADAMTS14 Ependymoma
44 45539 10 71990162 72295747 Deletion TBATA Ependymoma
45 45540 10 71990162 72295747 Deletion PALD1 Ependymoma
46 45541 10 71990162 72295747 Deletion PRF1 Ependymoma
47 45542 10 71990162 72295747 Deletion SGPL1 Ependymoma
48 45578 10 72636128 72774965 Deletion SLC29A3 Ependymoma
49 45579 10 72636128 72774965 Deletion UNC5B Ependymoma
50 45628 10 73121579 73231404 Deletion VSIR Ependymoma

Expression for Cellular Ependymoma

Search GEO for disease gene expression data for Cellular Ependymoma.

Pathways for Cellular Ependymoma

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

# Super pathways Score Top Affiliating Genes
1 11.89 SYP S100B NF2 NCAM1 GFAP
2 11.7 VIM NES NCAM1
3 11.62 VIM GFAP EGFR
4 11.54 NF2 MGMT EGFR
5
Show member pathways
11.47 S100B GFAP EGFR
6
Show member pathways
11.37 VIM NES GFAP
7 11 VIM SYP S100B NES NCAM1 GFAP
8 10.76 NCAM1 EGFR

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 intermediate filament cytoskeleton GO:0045111 8.8 VIM NES GFAP

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

# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.54 RELA MGMT EGFR
2 intermediate filament organization GO:0045109 9.32 VIM GFAP
3 astrocyte development GO:0014002 9.26 VIM GFAP
4 Bergmann glial cell differentiation GO:0060020 9.16 VIM GFAP
5 response to cobalamin GO:0033590 8.96 RELA EGFR
6 intermediate filament-based process GO:0045103 8.62 VIM GFAP

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.17 VIM SYP S100B RELA NCAM1 GFAP

Sources for Cellular Ependymoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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