MCID: CLR011
MIFTS: 36

Clear Cell Ependymoma

Categories: Cancer diseases, Neuronal diseases
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Aliases & Classifications for Clear Cell Ependymoma

MalaCards integrated aliases for Clear Cell Ependymoma:

Name: Clear Cell Ependymoma 11 53 5 14
Cellular Ependymoma 71

Classifications:



External Ids:

Disease Ontology 11 DOID:5507
UMLS 71 C1384403

Summaries for Clear Cell Ependymoma

MalaCards based summary: Clear Cell Ependymoma, also known as cellular ependymoma, is related to cauda equina syndrome and cellular ependymoma. An important gene associated with Clear Cell Ependymoma is MEN1 (Menin 1), and among its related pathways/superpathways are Neuroscience and Neural Stem Cells and Lineage-specific Markers. The drugs Cisplatin and Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, medulla oblongata and temporal lobe, and related phenotypes are Increased proliferation and normal

Related Diseases for Clear Cell Ependymoma

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

(show top 50) (show all 193)
# Related Disease Score Top Affiliating Genes
1 cauda equina syndrome 30.3 SYP GFAP
2 cellular ependymoma 30.2 ZFTA VIM SYP RELA NF2 MUC1
3 hemangioblastoma 30.1 VIM SYP MUC1 GFAP
4 oligodendroglioma 30.1 VIM SYP OLIG2 MSH2 GFAP
5 pilocytic astrocytoma 29.9 SYP OLIG2 GFAP
6 supratentorial ependymoma 29.9 ZFTA RELA NF2
7 brain cancer 29.6 SYP OLIG2 NF2 MSH2 GFAP
8 central neurocytoma 29.5 SYP RBFOX3 OLIG2 GFAP
9 high grade ependymoma 29.1 ZFTA RELA OLIG2 NF2 GFAP
10 meningioma, familial 28.8 VIM SYP OLIG2 NF2 MUC1 MEN1
11 myxopapillary ependymoma 28.6 ZFTA VIM SYP RELA NF2 MUC1
12 glioma susceptibility 1 10.6
13 mucinous adenocarcinoma 10.2 MUC1 MSH2
14 transitional meningioma 10.2 NF2 MUC1
15 pancreatic signet ring cell adenocarcinoma 10.2 MUC1 MSH2
16 signet ring cell adenocarcinoma 10.2 MUC1 MSH2
17 medullary colon carcinoma 10.2 MUC1 MSH2
18 fibrous meningioma 10.2 NF2 MUC1
19 gastric gastrinoma 10.2 SYP MEN1
20 gastrointestinal neuroendocrine benign tumor 10.2 SYP MEN1
21 duodenal gastrinoma 10.2 SYP MEN1
22 pancreatic gastrinoma 10.2 SYP MEN1
23 pineal region meningioma 10.2 SYP NF2
24 carcinoid tumors, intestinal 10.2 SYP MEN1
25 bile duct adenoma 10.2 VIM MUC1
26 gastrointestinal neuroendocrine tumor 10.2 SYP MEN1
27 chordoid meningioma 10.2 SYP NF2
28 gastric neuroendocrine neoplasm 10.2 SYP MEN1
29 orbital cancer 10.2 SYP NF2
30 small intestine benign neoplasm 10.2 SYP MEN1
31 appendix carcinoid tumor 10.2 SYP MSH2
32 pulmonary neuroendocrine tumor 10.2 SYP MEN1
33 spinal cord glioma 10.2 ZFTA NF2
34 esophageal neuroendocrine tumor 10.2 SYP MEN1
35 central nervous system fibrosarcoma 10.2 NF2 GFAP
36 vulvar eccrine porocarcinoma 10.2 SYP MUC1
37 bile duct mucinous adenocarcinoma 10.2 SYP MUC1
38 intraventricular meningioma 10.2 NF2 GFAP
39 hidradenoma 10.2 VIM MUC1
40 central epithelioid sarcoma 10.1 VIM SYP
41 vulvar proximal-type epithelioid sarcoma 10.1 VIM SYP
42 salpingitis isthmica nodosa 10.1 SYP NF2
43 optic nerve neoplasm 10.1 OLIG2 NF2
44 pancreatic endocrine carcinoma 10.1 SYP MEN1
45 factor viii deficiency 10.1
46 glanders 10.1
47 adenofibroma 10.1 VIM MUC1
48 microcystic adenoma 10.1 SYP MUC1
49 meningothelial meningioma 10.1 NF2 GFAP
50 optic nerve glioma 10.1 OLIG2 NF2

Graphical network of the top 20 diseases related to Clear Cell Ependymoma:



Diseases related to Clear Cell Ependymoma

Symptoms & Phenotypes for Clear Cell Ependymoma

GenomeRNAi Phenotypes related to Clear Cell Ependymoma according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased proliferation GR00094-A 8.62 MEN1 NF2

MGI Mouse Phenotypes related to Clear Cell Ependymoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.7 GFAP MEN1 MUC1 RELA SYP VIM
2 neoplasm MP:0002006 9.65 MEN1 MSH2 MUC1 NF2 OLIG2
3 nervous system MP:0003631 9.61 GFAP MEN1 MSH2 NF2 OLIG2 RBFOX3
4 digestive/alimentary MP:0005381 9.1 GFAP MEN1 MSH2 MUC1 NF2 RELA

Drugs & Therapeutics for Clear Cell Ependymoma

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 3 15663-27-1 2767 5702198 441203
2
Carboplatin Approved Phase 3 41575-94-4 10339178 38904
3
Etoposide Approved Phase 3 33419-42-0 36462
4
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
5
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
6
Picropodophyllin Approved, Investigational Phase 3 518-28-5, 477-47-4 10607 72435
7 Antirheumatic Agents Phase 3
8 Alkylating Agents Phase 3
9 Antineoplastic Agents, Alkylating Phase 3
10
Etoposide phosphate Phase 3 16760419
11 Antimitotic Agents Phase 3
12 Keratolytic Agents Phase 3
13 Tubulin Modulators Phase 3
14 Immunosuppressive Agents Phase 3
15 Dermatologic Agents Phase 3
16 Immunologic Factors Phase 3
17 Vaccines Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 A Phase I and Feasibility Trial of Heat Shock Protein Peptide Complex-96 (HSPPC-96) Vaccine for Pediatric Patients With Newly Diagnosed Intracranial High Grade Glioma and Recurrent Resectable Intracranial High Grade Glioma and Ependymoma Terminated NCT02722512 Phase 1

Search NIH Clinical Center for Clear Cell Ependymoma

Genetic Tests for Clear Cell Ependymoma

Anatomical Context for Clear Cell Ependymoma

Organs/tissues related to Clear Cell Ependymoma:

MalaCards : Spinal Cord, Medulla Oblongata, Temporal Lobe, Cerebellum, Brain, Bone

Publications for Clear Cell Ependymoma

Articles related to Clear Cell Ependymoma:

(show top 50) (show all 54)
# Title Authors PMID Year
1
[Immunohistochemical study is helpful for the diagnosis of cerebellar clear cell ependymoma with atypical radiological findings--case report]. 53 62
16277226 2005
2
Supratentorial ependymoma, zinc finger translocation-associated fusion positive, with extensive synaptophysin immunoreactivity arising from malignant transformation of clear cell ependymoma: A case report. 62
35509570 2022
3
The Effects of Surgery and Adjuvant Therapy on Survival Outcomes in Clear Cell Ependymomas: A Systematic Review and Meta-Analysis of Individual Patient Data. 62
32949795 2021
4
Intramedullary clear cell ependymoma of the lower thoracic spinal cord: report of a new case. 62
33365185 2020
5
Low-grade neuroepithelial tumor: Unusual presentation in an adult without history of seizures. 62
30051533 2018
6
Prognostic Implications of Histological Clear Cells in High-Grade Intracranial Ependymal Tumors: A Retrospective Analysis from a Tertiary Care Hospital in Pakistan. 62
29682026 2018
7
A case of clear cell ependymoma with bizarre aggressiveness: Are we underestimating its ferocity? 62
28879912 2017
8
Cerebellar ependymoma with overlapping features of clear-cell and tanycytic variants mimicking hemangioblastoma: a case report and literature review. 62
28320419 2017
9
Supratentorial clear cell ependymomas with branching capillaries demonstrate characteristic clinicopathological features and pathological activation of nuclear factor-kappaB signaling. 62
26984744 2016
10
Clear cell ependymoma with late leptomeningeal and supratentorial metastases. 62
26431995 2016
11
Anaplastic oligodendroglioma arising from the brain stem and featuring 1p/19q co-deletion. 62
23711170 2014
12
Clear cell ependymoma in a dog. 62
23273584 2013
13
Clear cells are associated with proliferative activity in ependymoma: a quantitative study. 62
22551919 2012
14
Clear cell ependymoma with trisomy 19 developing bone metastases. 62
22207400 2012
15
Anaplastic clear cell ependymoma of the conus medullaris and cauda equina in a 3-year-old child. 62
22009009 2012
16
A case of anaplastic clear-cell ependymoma presenting with high erythropoietin concentration and 1p/19q deletions. 62
21643803 2011
17
Supratentorial clear cell ependymoma mimicking oligodendroglioma : case report and review of the literature. 62
22102956 2011
18
Intraparenchymal clear cell ependymoma. 62
21713151 2011
19
Glycogen-rich pleomorphic xanthoastrocytoma with clear-cell features: confirmatory report of a rare variant with implications for differential diagnosis. 62
21282017 2011
20
Clear cell ependymoma occurring in the cauda equina. 62
20856665 2010
21
Intraoperative imprint cytology of central neurocytoma: The great oligodendroglioma mimicker. 62
19795492 2010
22
Differentiation of clear cell ependymoma of the cerebellum from hemangioblastoma by thallium-201 single photon emission computed tomography-case report-. 62
20035139 2009
23
Malignant transformation of supratentorial clear cell ependymoma. 62
18647267 2009
24
Patterns of brain infiltration and secondary structure formation in supratentorial ependymal tumors. 62
18716554 2008
25
Clear cell ependymoma: a mimicker of oligodendroglioma--report of three cases. 62
18248576 2008
26
Olig2 and CD99 are useful negative markers for the diagnosis of brain tumors. 62
18552083 2008
27
Clear-cell ependymoma: a report of intracortical tumor with significant desmoplasia. 62
18194140 2008
28
The prognostic value of histological grading of posterior fossa ependymomas in children: a Children's Oncology Group study and a review of prognostic factors. 62
18084249 2008
29
Giant cell ependymoma: a case report. 62
18006220 2008
30
Clear cell ependymoma of the temporal lobe in a child: a case report. 62
18097199 2008
31
Intramedullary clear cell ependymoma in the thoracic spinal cord: a case with its crush smear and ultrastructural findings. 62
17923743 2007
32
Trisomy 19 ependymoma, a newly recognized genetico-histological association, including clear cell ependymoma. 62
17626628 2007
33
Clear-cell ependymoma of the cerebellum: a case report. 62
17614003 2007
34
Imaging features of clear-cell ependymoma of the spinal cord. 62
17279401 2007
35
Chromosomal imbalances in clear cell ependymomas. 62
16648869 2006
36
Clear cell meningioma: case report and review of the literature. 62
16010490 2005
37
Clear cell ependymoma of the fourth ventricle. 62
15641594 2004
38
Value and limits of immunohistochemistry in differential diagnosis of clear cell primary brain tumors. 62
15108012 2004
39
Supratentorial lobar anaplastic ependymoma resembling cerebral metastasis: a case report. 62
15521241 2004
40
Histological spectrum of ependymomas and correlation of p53 and Ki-67 expression with ependymoma grade and subtype. 62
15318011 2004
41
Clear cell ependymoma: a clinicopathologic and radiographic analysis of 10 patients. 62
14601094 2003
42
Clear cell ependymoma with a lipidized component that developed in the thoracic spinal cord. 62
12870256 2003
43
Case of clear cell ependymoma of medulla oblongata: clinicopathological and immunohistochemical study with literature review. 62
12713564 2003
44
Oligodendroglioma: pathology and molecular biology. 62
12453646 2002
45
Prognostic value of Ki-67 (MIB-1) and p53 in ependymomas. 62
11908872 2001
46
Intramedullary clear cell ependymoma in the cervical spinal cord: case report. 62
11126915 2000
47
[Brain surface clear cell ependymoma: case report]. 62
10478346 1999
48
Cerebellar clear cell ependymoma mimicking hemangioblastoma: its clinical and pathological features. 62
10086492 1999
49
[Clear cell ependymoma--a case report]. 62
9621365 1998
50
Clear cell ependymoma: a mimic of oligodendroglioma: clinicopathologic and ultrastructural considerations. 62
9236838 1997

Variations for Clear Cell Ependymoma

ClinVar genetic disease variations for Clear Cell Ependymoma:

5 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MEN1 NM_001370259.2(MEN1):c.696dup (p.Lys233fs) DUP 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) DUP Likely Pathogenic
634998 GRCh37: 11:63533279-65429676
GRCh38:
4 MSH2 NM_000251.3(MSH2):c.482T>C (p.Val161Ala) SNV Likely Pathogenic
565544 rs63750126 GRCh37: 2:47637348-47637348
GRCh38: 2:47410209-47410209
5 RET NM_020975.6(RET):c.1202G>A (p.Ser401Asn) SNV Uncertain Significance
620604 rs1564493414 GRCh37: 10:43604617-43604617
GRCh38: 10:43109169-43109169
6 MAP4K3 NM_003618.4(MAP4K3):c.899T>C (p.Phe300Ser) SNV Uncertain Significance
487798 rs1268580645 GRCh37: 2:39552678-39552678
GRCh38: 2:39325537-39325537
7 KLHL21 NM_014851.4(KLHL21):c.501G>C (p.Glu167Asp) SNV Uncertain Significance
487795 rs1292721663 GRCh37: 1:6662377-6662377
GRCh38: 1:6602317-6602317
8 VBP1 NM_003372.7(VBP1):c.331C>A (p.Leu111Met) SNV Uncertain Significance
487792 rs1000821034 GRCh37: X:154456711-154456711
GRCh38: X:155228429-155228429
9 TASOR NM_001365635.2(TASOR):c.97G>A (p.Glu33Lys) SNV Uncertain Significance
487784 rs1553733337 GRCh37: 3:56716938-56716938
GRCh38: 3:56682910-56682910
10 SETD9 NM_153706.4(SETD9):c.788_796del (p.Ile263_Tyr265del) DEL Uncertain Significance
487781 rs1554039146 GRCh37: 5:56210766-56210774
GRCh38: 5:56914939-56914947
11 TXNRD2 NM_006440.5(TXNRD2):c.1432G>C (p.Ala478Pro) SNV Uncertain Significance
487801 rs1555906972 GRCh37: 22:19865626-19865626
GRCh38: 22:19878103-19878103
12 KAT6B NM_012330.4(KAT6B):c.3827C>T (p.Pro1276Leu) SNV Uncertain Significance
487787 rs1554845417 GRCh37: 10:76788409-76788409
GRCh38: 10:75028651-75028651
13 TRPM1 NM_001252024.2(TRPM1):c.283A>C (p.Ile95Leu) SNV Uncertain Significance
487810 rs1555424877 GRCh37: 15:31360292-31360292
GRCh38: 15:31068089-31068089
14 CACNG2 NM_006078.5(CACNG2):c.541T>C (p.Tyr181His) SNV Uncertain Significance
487807 rs1555892196 GRCh37: 22:36960829-36960829
GRCh38: 22:36564782-36564782
15 NET1 NM_001047160.3(NET1):c.498G>T (p.Glu166Asp) SNV Uncertain Significance
487790 rs1554818513 GRCh37: 10:5494455-5494455
GRCh38: 10:5452492-5452492
16 ARHGAP32 NM_001378024.1(ARHGAP32):c.4745C>G (p.Thr1582Ser) SNV Uncertain Significance
487793 rs749174548 GRCh37: 11:128840363-128840363
GRCh38: 11:128970468-128970468
17 GON4L NM_001282860.2(GON4L):c.2455A>G (p.Asn819Asp) SNV Uncertain Significance
487779 rs1553200563 GRCh37: 1:155742897-155742897
GRCh38: 1:155773106-155773106
18 TRAF3 NM_145725.3(TRAF3):c.53C>G (p.Pro18Arg) SNV Uncertain Significance
487799 rs145456077 GRCh37: 14:103336591-103336591
GRCh38: 14:102870254-102870254
19 HSD3B2 NM_000198.4(HSD3B2):c.1004G>A (p.Arg335Gln) SNV Uncertain Significance
487802 rs985808078 GRCh37: 1:119965128-119965128
GRCh38: 1:119422505-119422505
20 KREMEN2 NM_172229.3(KREMEN2):c.494G>T (p.Gly165Val) SNV Uncertain Significance
487788 rs1210829529 GRCh37: 16:3016650-3016650
GRCh38: 16:2966649-2966649
21 POU3F4 NM_000307.5(POU3F4):c.1013C>T (p.Pro338Leu) SNV Uncertain Significance
487785 rs1555984638 GRCh37: X:82764345-82764345
GRCh38: X:83509337-83509337
22 SYNE1 NM_182961.4(SYNE1):c.11097C>G (p.Phe3699Leu) SNV Uncertain Significance
487805 rs1554520414 GRCh37: 6:152674554-152674554
GRCh38: 6:152353419-152353419
23 BANP NM_001386991.1(BANP):c.692A>G (p.Asn231Ser) SNV Uncertain Significance
487782 rs1555586650 GRCh37: 16:88052070-88052070
GRCh38: 16:88018464-88018464
24 SH3TC2 NM_024577.4(SH3TC2):c.3016del (p.Ser1006fs) DEL Uncertain Significance
487808 rs1554121513 GRCh37: 5:148406172-148406172
GRCh38: 5:149026609-149026609
25 SPRY3 NM_001304990.2(SPRY3):c.55C>T (p.Arg19Cys) SNV Uncertain Significance
487791 rs779201129 GRCh37: Y:59106594-59106594
GRCh38: X:155773926-155773926
26 OTUD5 NM_001136157.2(OTUD5):c.1687C>A (p.Pro563Thr) SNV Uncertain Significance
487794 rs1295653938 GRCh37: X:48780465-48780465
GRCh38: X:48923188-48923188
27 GLB1 NM_000404.4(GLB1):c.1903G>C (p.Ala635Pro) SNV Uncertain Significance
487803 rs1553604701 GRCh37: 3:33038668-33038668
GRCh38: 3:32997176-32997176
28 HDAC3 NM_003883.4(HDAC3):c.50_55+5del DEL Uncertain Significance
487780 rs1554218152 GRCh37: 5:141016298-141016308
GRCh38: 5:141636731-141636741
29 LETM1 NM_012318.3(LETM1):c.286G>A (p.Val96Met) SNV Uncertain Significance
487800 rs753905629 GRCh37: 4:1843382-1843382
GRCh38: 4:1841655-1841655
30 LATS1 NM_004690.4(LATS1):c.2365G>C (p.Asp789His) SNV Uncertain Significance
487797 rs750318192 GRCh37: 6:150001239-150001239
GRCh38: 6:149680103-149680103
31 ADGRA2 NM_032777.10(ADGRA2):c.1316_1334del (p.Asn439fs) DEL Uncertain Significance
487806 rs1554525957 GRCh37: 8:37691223-37691241
GRCh38: 8:37833705-37833723
32 SUV39H1 NM_003173.4(SUV39H1):c.415C>T (p.Arg139Cys) SNV Uncertain Significance
487783 rs368779259 GRCh37: X:48558731-48558731
GRCh38: X:48700340-48700340
33 SLC39A11 NM_139177.4(SLC39A11):c.595G>T (p.Val199Phe) SNV Uncertain Significance
487809 rs745762301 GRCh37: 17:70845779-70845779
GRCh38: 17:72849640-72849640
34 DEPDC5 NM_001242896.3(DEPDC5):c.2939G>A (p.Trp980Ter) SNV Uncertain Significance
487789 rs1555900957 GRCh37: 22:32241141-32241141
GRCh38: 22:31845155-31845155
35 PATZ1 NM_014323.3(PATZ1):c.562G>T (p.Asp188Tyr) SNV Uncertain Significance
487786 rs1555894069 GRCh37: 22:31741027-31741027
GRCh38: 22:31345041-31345041
36 MT-ND4 NC_012920.1:m.11032delA DEL Uncertain Significance
487804 rs1556423884 GRCh37: MT:11032-11032
GRCh38: MT:11032-11032

Expression for Clear Cell Ependymoma

Search GEO for disease gene expression data for Clear Cell Ependymoma.

Pathways for Clear Cell Ependymoma

Pathways related to Clear Cell Ependymoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.79 SYP RBFOX3 NF2 GFAP
2 10.82 VIM SYP OLIG2 GFAP

GO Terms for Clear Cell Ependymoma

Biological processes related to Clear Cell Ependymoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 astrocyte development GO:0014002 9.62 VIM GFAP
2 Bergmann glial cell differentiation GO:0060020 9.56 VIM GFAP
3 response to UV-B GO:0010224 9.46 RELA MSH2
4 Schwann cell proliferation GO:0014010 9.26 NF2 GFAP
5 intermediate filament-based process GO:0045103 8.62 VIM GFAP

Molecular functions related to Clear Cell Ependymoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 four-way junction DNA binding GO:0000400 8.92 MSH2 MEN1

Sources for Clear Cell Ependymoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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