MCID: CLR011
MIFTS: 31

Clear Cell Ependymoma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Clear Cell Ependymoma

MalaCards integrated aliases for Clear Cell Ependymoma:

Name: Clear Cell Ependymoma 12 54 6 15
Cellular Ependymoma 70

Classifications:



External Ids:

Disease Ontology 12 DOID:5507
UMLS 70 C1384403

Summaries for Clear Cell Ependymoma

MalaCards based summary : Clear Cell Ependymoma, also known as cellular ependymoma, is related to cellular ependymoma and hemangioblastoma. An important gene associated with Clear Cell Ependymoma is MEN1 (Menin 1), and among its related pathways/superpathways are Neuroscience and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include spinal cord, cerebellum and temporal lobe, and related phenotype is Increased proliferation.

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 310)
# Related Disease Score Top Affiliating Genes
1 cellular ependymoma 30.5 ZFTA VIM SYP NF2 MUC1 MEN1
2 hemangioblastoma 30.1 VIM SYP MUC1 GFAP ENO2
3 central neurocytoma 30.1 SYP OLIG2 GFAP ENO2
4 benign ependymoma 30.1 ZFTA SYP NF2 IDH1 GFAP
5 oligodendroglioma 30.0 SYP OLIG2 IDH1 GFAP ENO2
6 secretory meningioma 30.0 VIM NF2 MUC1
7 malignant astrocytoma 30.0 VIM OLIG2 IDH1 GFAP
8 pilocytic astrocytoma 29.7 SYP OLIG2 IDH1 GFAP
9 meningioma, familial 29.1 VIM SYP NF2 MUC1 MEN1 GFAP
10 myxopapillary ependymoma 28.8 ZFTA VIM SYP NF2 MUC1 GFAP
11 primary hepatic neuroendocrine carcinoma 10.3 VIM SYP
12 glomangiomyoma 10.3 VIM SYP
13 desmoplastic infantile ganglioglioma 10.3 SYP GFAP
14 esophageal adenoid cystic carcinoma 10.3 VIM SYP
15 lung combined type small cell carcinoma 10.3 SYP GFAP
16 eccrine porocarcinoma 10.3 VIM MUC1
17 nodular hidradenoma 10.3 VIM MUC1
18 hidradenoma 10.3 VIM MUC1
19 glomangioma 10.3 VIM SYP
20 esophageal neuroendocrine tumor 10.3 SYP MUC1
21 endometrial mucinous adenocarcinoma 10.3 VIM MUC1
22 vulvar eccrine porocarcinoma 10.3 SYP MUC1
23 glioma susceptibility 1 10.3
24 bednar tumor 10.3 VIM ENO2
25 chiari malformation 10.3 SYP GFAP
26 malignant melanocytic neoplasm of the peripheral nerve sheath 10.3 SYP ENO2
27 medullomyoblastoma 10.3 SYP GFAP
28 anal neuroendocrine tumor 10.3 SYP ENO2
29 optic nerve astrocytoma 10.3 SYP ENO2
30 neuronal intestinal dysplasia, type b 10.3 SYP ENO2
31 cauda equina syndrome 10.3 SYP GFAP
32 congenital epulis 10.3 VIM ENO2
33 epulis 10.3 VIM ENO2
34 auditory system benign neoplasm 10.3 SYP ENO2
35 papillary adenoma 10.3 VIM SYP
36 chondroid chordoma 10.3 VIM MUC1
37 auditory system cancer 10.3 SYP ENO2
38 central epithelioid sarcoma 10.3 VIM SYP
39 cloacogenic carcinoma 10.3 SYP ENO2
40 pineal region teratoma 10.3 SYP ENO2
41 vulvar proximal-type epithelioid sarcoma 10.3 VIM SYP
42 pericardial mesothelioma 10.3 VIM MUC1
43 extraosseous ewings sarcoma-primitive neuroepithelial tumor 10.3 SYP ENO2
44 cauda equina neoplasm 10.3 SYP ENO2
45 ewing sarcoma of bone 10.3 VIM ENO2
46 intracranial primitive neuroectodermal tumor 10.3 SYP ENO2
47 binswanger's disease 10.3 SYP GFAP
48 large cell medulloblastoma 10.3 VIM SYP
49 nodular prostate 10.3 SYP ENO2
50 ampulla of vater benign neoplasm 10.3 SYP ENO2

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased proliferation GR00094-A 8.62 MEN1 NF2

Drugs & Therapeutics for Clear Cell Ependymoma

Search Clinical Trials , NIH Clinical Center for Clear Cell Ependymoma

Genetic Tests for Clear Cell Ependymoma

Anatomical Context for Clear Cell Ependymoma

MalaCards organs/tissues related to Clear Cell Ependymoma:

40
Spinal Cord, Cerebellum, Temporal Lobe, Medulla Oblongata

Publications for Clear Cell Ependymoma

Articles related to Clear Cell Ependymoma:

(show top 50) (show all 71)
# Title Authors PMID Year
1
[Immunohistochemical study is helpful for the diagnosis of cerebellar clear cell ependymoma with atypical radiological findings--case report]. 61 54
16277226 2005
2
The Effects of Surgery and Adjuvant Therapy on Survival Outcomes in Clear Cell Ependymomas: A Systematic Review and Meta-Analysis of Individual Patient Data. 61
32949795 2021
3
Fatal holocord recurrence of a pregnancy-related, low-grade spinal ependymoma: case report and review of an unusual clinical phenomenon. 61
33009374 2020
4
Intramedullary clear cell ependymoma of the lower thoracic spinal cord: report of a new case. 61
33365185 2020
5
Factors associated with postoperative outcomes in patients with intramedullary Grade II ependymomas: A Systematic review and meta-analysis. 61
31232977 2019
6
Low-grade neuroepithelial tumor: Unusual presentation in an adult without history of seizures. 61
30051533 2018
7
MRI Characteristics of Spinal Ependymoma in WHO Grade II: A Review of 59 Cases. 61
29189641 2018
8
Prognostic Implications of Histological Clear Cells in High-Grade Intracranial Ependymal Tumors: A Retrospective Analysis from a Tertiary Care Hospital in Pakistan. 61
29682026 2018
9
A Simplified Overview of World Health Organization Classification Update of Central Nervous System Tumors 2016. 61
29204027 2017
10
A case of clear cell ependymoma with bizarre aggressiveness: Are we underestimating its ferocity? 61
28879912 2017
11
Cerebellar ependymoma with overlapping features of clear-cell and tanycytic variants mimicking hemangioblastoma: a case report and literature review. 61
28320419 2017
12
Supratentorial clear cell ependymomas with branching capillaries demonstrate characteristic clinicopathological features and pathological activation of nuclear factor-kappaB signaling. 61
26984744 2016
13
Spontaneous Hemorrhage of a Spinal Ependymoma in the Filum Terminale Presenting with Acute Cauda Equina Syndrome: Case Report. 61
28664006 2016
14
Clear cell ependymoma with late leptomeningeal and supratentorial metastases. 61
26431995 2016
15
Anaplastic oligodendroglioma arising from the brain stem and featuring 1p/19q co-deletion. 61
23711170 2014
16
Infantile holocord cellular ependymoma with communicating hydrocephalus: unusual presentation of a rare case. 61
23512254 2014
17
Clear cell ependymoma in a dog. 61
23273584 2013
18
PET findings of intramedullary tumors of the spinal cord using [18F] FDG and [11C] methionine. 61
23275592 2013
19
'Serpent in the spine': a case of giant spinal ependymoma of cervicothoracic spine. 61
22739334 2012
20
Clear cell ependymoma with trisomy 19 developing bone metastases. 61
22207400 2012
21
Anaplastic clear cell ependymoma of the conus medullaris and cauda equina in a 3-year-old child. 61
22009009 2012
22
Clear cells are associated with proliferative activity in ependymoma: a quantitative study. 61
22551919 2012
23
Supratentorial ependymoma in children: to observe or to treat following gross total resection? 61
21370439 2012
24
A case of anaplastic clear-cell ependymoma presenting with high erythropoietin concentration and 1p/19q deletions. 61
21643803 2011
25
Supratentorial clear cell ependymoma mimicking oligodendroglioma : case report and review of the literature. 61
22102956 2011
26
Intraparenchymal clear cell ependymoma. 61
21713151 2011
27
Glycogen-rich pleomorphic xanthoastrocytoma with clear-cell features: confirmatory report of a rare variant with implications for differential diagnosis. 61
21282017 2011
28
Clear cell ependymoma occurring in the cauda equina. 61
20856665 2010
29
Intraoperative imprint cytology of central neurocytoma: The great oligodendroglioma mimicker. 61
19795492 2010
30
Differentiation of clear cell ependymoma of the cerebellum from hemangioblastoma by thallium-201 single photon emission computed tomography-case report-. 61
20035139 2009
31
Malignant transformation of supratentorial clear cell ependymoma. 61
18647267 2009
32
Patterns of brain infiltration and secondary structure formation in supratentorial ependymal tumors. 61
18716554 2008
33
Clear cell ependymoma: a mimicker of oligodendroglioma--report of three cases. 61
18248576 2008
34
Olig2 and CD99 are useful negative markers for the diagnosis of brain tumors. 61
18552083 2008
35
Clear-cell ependymoma: a report of intracortical tumor with significant desmoplasia. 61
18194140 2008
36
The prognostic value of histological grading of posterior fossa ependymomas in children: a Children's Oncology Group study and a review of prognostic factors. 61
18084249 2008
37
Giant cell ependymoma: a case report. 61
18006220 2008
38
Clear cell ependymoma of the temporal lobe in a child: a case report. 61
18097199 2008
39
Intramedullary clear cell ependymoma in the thoracic spinal cord: a case with its crush smear and ultrastructural findings. 61
17923743 2007
40
Trisomy 19 ependymoma, a newly recognized genetico-histological association, including clear cell ependymoma. 61
17626628 2007
41
Clear-cell ependymoma of the cerebellum: a case report. 61
17614003 2007
42
Imaging features of clear-cell ependymoma of the spinal cord. 61
17279401 2007
43
Chromosomal imbalances in clear cell ependymomas. 61
16648869 2006
44
Clear cell meningioma: case report and review of the literature. 61
16010490 2005
45
Fourth ventricle neurocytoma with lipomatous and ependymal differentiation. 61
15627205 2005
46
Clear cell ependymoma of the fourth ventricle. 61
15641594 2004
47
Value and limits of immunohistochemistry in differential diagnosis of clear cell primary brain tumors. 61
15108012 2004
48
Supratentorial lobar anaplastic ependymoma resembling cerebral metastasis: a case report. 61
15521241 2004
49
Histological spectrum of ependymomas and correlation of p53 and Ki-67 expression with ependymoma grade and subtype. 61
15318011 2004
50
Clear cell ependymoma: a clinicopathologic and radiographic analysis of 10 patients. 61
14601094 2003

Variations for Clear Cell Ependymoma

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

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 NF2 GFAP ENO2
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 intermediate filament organization GO:0045109 9.26 VIM GFAP
2 astrocyte development GO:0014002 9.16 VIM GFAP
3 Bergmann glial cell differentiation GO:0060020 8.96 VIM GFAP
4 intermediate filament-based process GO:0045103 8.62 VIM GFAP

Sources for Clear Cell 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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