MCID: ANP006
MIFTS: 39

Anaplastic Ependymoma malady

Rare diseases, Neuronal diseases, Cancer diseases categories

Summaries for Anaplastic Ependymoma

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NIH Rare Diseases:41 An ependymoma is a tumor that forms when cells in the central nervous system (including the brain and spinal cord) begin to multiple rapidly.  an anaplastic ependymoma is one in which the cells are significantly unusual and grow very quickly.  ependymomas can occur at any age; when they occur in children, they are more frequently located in the brain, whereas they are more often found in the spinal cord of affected adults.  symptoms of an ependymoma depend on the age of the patient and the size and location of the tumor.  though the exact cause of ependymoma is not yet known, it is thought that changes (mutations) in certain genes allow the cells to begin growing quickly.  treatment for ependymoma begins with surgery to remove as much of the tumor as possible, and may include other therapies as well.  of all individuals diagnosed with an ependymoma, approximately half are alive five years after their initial diagnosis. last updated: 3/27/2012

MalaCards based summary: Anaplastic Ependymoma, also known as high-grade ependymoma, is related to ependymoma and malignant ependymoma. An important gene associated with Anaplastic Ependymoma is NF2 (neurofibromin 2 (merlin)), and among its related pathways are Nuclear signaling by ERBB4 and EGFR Signaling Pathway. The compounds 2,3-cyclic nucleotide and n-ethyl-n-nitrosourea have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and bone, and related mouse phenotypes are liver/biliary system and vision/eye.

Aliases & Classifications for Anaplastic Ependymoma

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Sources:
41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 61UMLS via Orphanet
See all sources

Anaplastic Ependymoma, Aliases & Descriptions:

Name: Anaplastic Ependymoma 41 43 47 60
 
High-Grade Ependymoma 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

47
anaplastic ependymoma:
Inheritance: Not applicable; Age of onset: Adolescent,Adult,Childhood


External Ids:

Orphanet47 251646
UMLS via Orphanet61 C0280788

Related Diseases for Anaplastic Ependymoma

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

(show top 50)    (show all 87)
idRelated DiseaseScoreTop Affiliating Genes
1ependymoma30.7MDM2, MGMT, GFAP, MUC1, S100B, NF2
2malignant ependymoma30.7GFAP, NF2
3myxopapillary ependymoma30.6GFAP, S100B
4ganglioglioma30.6S100B, GFAP
5gliosarcoma30.4PTEN, GFAP
6glioblastoma29.4MGMT, GFAP, PTEN, S100B, MDM2
7spinal cord ependymoma10.5NF2
8choroid plexus papilloma10.5GFAP
9subependymal giant cell astrocytoma10.4GFAP
10secretory meningioma10.4MUC1
11cervicitis10.3
12meningitis10.3
13tanycytic ependymoma10.3GFAP, NF2
14neurilemmoma10.3GFAP, NF2
15papillary ependymoma10.3S100B, GFAP
16choroid plexus carcinoma10.3GFAP, S100B
17perineurioma10.3S100B, MUC1
18transitional meningioma10.3MUC1, NF2
19pineocytoma10.3GFAP, S100B
20myoepithelioma10.3GFAP, S100B
21neurofibromatosis10.2S100B, NF2
22spindle cell sarcoma10.2S100B, MUC1
23gastrointestinal stromal tumor10.2NF2, S100B
24oligoastrocytoma10.2MGMT, GFAP
25dermatofibrosarcoma protuberans10.2MUC1, S100B
26sex cord-gonadal stromal tumor10.2MUC1, S100B
27malignant mixed mullerian tumor10.2MUC1, S100B
28giant cell tumor10.2S100B, MUC1
29paraganglioma10.2S100B, GFAP
30salivary gland adenoid cystic carcinoma10.2S100B, MUC1
31neuroendocrine tumor10.2MUC1, S100B
32benign meningioma10.2NF2, MDM2
33hydrocephalus10.1
34cerebritis10.1
35malignant adult ependymoma10.1
36encephalitis10.1
37ependymoblastoma10.1
38fungal meningitis10.1
39back pain10.1
40headache10.1
41brain cancer10.1MGMT, MDM2
42mesothelioma, somatic10.1MUC1, NF2
43mesothelioma10.1NF2, MUC1
44gliomatosis cerebri10.1PTEN, GFAP
45fibrous meningioma10.1NF2, S100B, MUC1
46uveal melanoma10.1MDM2, S100B
47neurofibroma10.1MUC1, S100B, NF2
48syringoma10.1S100B, MUC1, GFAP
49hemangioblastoma10.1S100B, MUC1, GFAP
50chordoma10.1GFAP, MUC1, S100B

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



Diseases related to anaplastic ependymoma

Symptoms for Anaplastic Ependymoma

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Drugs & Therapeutics for Anaplastic Ependymoma

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Drug clinical trials:

Search ClinicalTrials for Anaplastic Ependymoma

Search NIH Clinical Center for Anaplastic Ependymoma

Genetic Tests for Anaplastic Ependymoma

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Anatomical Context for Anaplastic Ependymoma

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MalaCards organs/tissues related to Anaplastic Ependymoma:

31
Spinal cord, Brain, Bone

Animal Models for Anaplastic Ependymoma or affiliated genes

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MGI Mouse Phenotypes related to Anaplastic Ependymoma:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.2MDM2, NF2, MUC1, PTEN
2MP:00053918.2GFAP, PTEN, MUC1, NF2
3MP:00053818.1MDM2, MUC1, PTEN, GFAP
4MP:00053797.9MGMT, PTEN, MUC1, NF2
5MP:00107717.9PTEN, MUC1, S100B, NF2, MDM2
6MP:00053867.9GFAP, PTEN, S100B, NF2, MDM2
7MP:00020067.8MDM2, NF2, MUC1, PTEN, MGMT
8MP:00028737.8GFAP, PTEN, MUC1, S100B, MDM2
9MP:00053767.8NF2, MUC1, PTEN, GFAP, MGMT

Publications for Anaplastic Ependymoma

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Articles related to Anaplastic Ependymoma:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Paediatric Intracranial Anaplastic Ependymoma: The Role of Multiple Surgical Resections for Disease Relapse in Maintaining Quality of Life and Prolonged Survival. (25871983)
2015
2
Supratentorial extraventricular anaplastic ependymoma with extracranial metastasis. (25455735)
2015
3
Treatment of Ovarian Anaplastic Ependymoma by an Aromatase Inhibitor. (24413241)
2014
4
Anaplastic ependymoma of the third ventricle. (24643478)
2014
5
Cortical anaplastic ependymoma with significant desmoplasia: a case report and literature review. (24455359)
2013
6
Anaplastic ependymoma with holocordal and intracranial meningeal carcinomatosis and holospinal bone metastases. (23422903)
2013
7
Radiation-induced anaplastic ependymoma with a remarkable clinical response to temozolomide: a case report. (23163298)
2013
8
Supratentorial gross-totally resected non-anaplastic ependymoma: population based patterns of care and outcomes analysis. (24085643)
2013
9
Cisplatin and temozolomide combination in the treatment of supratentorial anaplastic ependymoma. (24192541)
2013
10
Metronomic cyclophosphamide with cisplatin and bevacizumab: a new chemotherapeutic regimen for refractory anaplastic ependymoma. (23155280)
2012
11
An anaplastic ependymoma presenting as an intrinsic brainstem glioma. (22406810)
2012
12
Tandem high-dose chemotherapy and autologous stem cell transplantation for anaplastic ependymoma in children younger than 3 years of age. (22081297)
2012
13
Cystic with mural nodule: Unusual radiological presentation of supratentorial anaplastic ependymoma. (23248684)
2012
14
Spinal intradural, extramedullary anaplastic ependymoma with an extradural component: Case report and review of the literature. (21918734)
2011
15
Extraventricular anaplastic ependymoma with metastasis to scalp and neck. (21222217)
2011
16
Isolated extracranial recurrence of anaplastic ependymoma. (20830772)
2011
17
Metachronous occurrence of a temporal ganglioglioma and a bifrontal anaplastic ependymoma: coincidence or an explainable pathological curiosity? (21501061)
2011
18
Dissemination limits the survival of patients with anaplastic ependymoma after extensive surgical resection, meticulous follow up, and intensive treatment for recurrence. (20186454)
2010
19
Recurrent posterior fossa anaplastic ependymoma with prominent chondroid metaplasia: a case report and review of literature. (21045418)
2010
20
Huge supratentorial extraventricular anaplastic ependymoma presenting with massive calcification--case report. (20185883)
2010
21
Anaplastic ependymoma with sclerotic bone metastases. (20979177)
2010
22
A case of an anaplastic ependymoma with gliosarcomatous components. (19408092)
2009
23
Metastasizing anaplastic ependymoma in an adult. Chromosomal imbalances, metabolic and gene expression profiles. (19309408)
2009
24
Intracavitary chemotherapy (Gliadel) and oral low-dose etoposide for recurrent anaplastic ependymoma. (18425379)
2008
25
Divergent ependymal tumor (ependymoblastoma/anaplastic ependymoma) of the posterior fossa: an uncommon case observed in a child. (18827270)
2008
26
Images in neuro-oncology: rapid development of osseous and chondrous metaplasia in recurrent anaplastic ependymoma. (17039399)
2007
27
Extraneural metastases in anaplastic ependymoma. (17998733)
2007
28
Recurrence in supratentorial anaplastic ependymoma. (17786000)
2007
29
Intradural extramedullary spinal anaplastic ependymoma. Case illustration. (17120902)
2006
30
Development of anaplastic ependymoma in Rasmussen's encephalitis: review of the literature and case report. (15928965)
2006
31
Spinal extramedullary anaplastic ependymoma with spinal and intracranial metastases. (16614942)
2006
32
Ectopic cervical anaplastic ependymoma. (16287493)
2005
33
The use of neoadjuvant chemotherapy to achieve complete surgical resection in recurring supratentorial anaplastic ependymoma. (15338180)
2005
34
Anaplastic ependymoma of the fourth ventricle causing obstrictive hydrocephalus. (17299539)
2005
35
Role of radiotherapy in anaplastic ependymoma in children under age of 3 years: results of the prospective German brain tumor trials HIT-SKK 87 and 92. (16300848)
2005
36
Long-term control of recurrent anaplastic ependymoma with extracranial metastasis: importance of multiple surgery and stereotactic radiosurgery procedures--case report. (15684601)
2004
37
Stereotactic radiosurgery for nodular dissemination of anaplastic ependymoma. (15015053)
2004
38
Supratentorial lobar anaplastic ependymoma resembling cerebral metastasis: a case report. (15521241)
2004
39
Gliosarcoma arising from an anaplastic ependymoma: a case report of a rare entity. (15116335)
2004
40
Re: B. Beuthien-Baumann, et al. Differentiation between recurrent tumor and radiation necrosis in a child with anaplastic ependymoma after chemotherapy and radiation therapy. Strahlenther Onkol 2003;179:819-22. (15057436)
2004
41
Differentiation between recurrent tumor and radiation necrosis in a child with anaplastic ependymoma after chemotherapy and radiation therapy. (14652670)
2003
42
A family with spinal anaplastic ependymoma: evidence of loss of chromosome 22q in tumor. (14566482)
2003
43
Response of recurrent anaplastic ependymoma to a combination of tamoxifen and isotretinoin. (14557591)
2003
44
Spinal seeding of anaplastic ependymoma mimicking fungal meningitis. A case report and review of the literature. (10961497)
2000
45
Adjuvant stereotactic radiosurgery for anaplastic ependymoma. (10853093)
1999
46
Anaplastic ependymoma: treatment of pediatric patients with or without craniospinal radiation therapy. (9171172)
1997
47
Cytomorphology of anaplastic ependymoma in a pleural effusion. A case report. (7762356)
1995
48
Anaplastic ependymoma in children--increasing incidence? (1810398)
1991
49
Anaplastic ependymoma of the spinal cord in childhood. A case report. (2203230)
1990
50
Case report. Anaplastic ependymoma of the spinal cord. (7413015)
1980

Variations for Anaplastic Ependymoma

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Cosmic variations for Anaplastic Ependymoma:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
129395NOTCH1central nervous system,brain,glioma,ependymoma3

Expression for genes affiliated with Anaplastic Ependymoma

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Search GEO for disease gene expression data for Anaplastic Ependymoma.

Pathways for genes affiliated with Anaplastic Ependymoma

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

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6GFAP, S100B
29.3MDM2, MUC1
39.2GFAP, S100B, NF2
49.0PTEN, MDM2
5
Show member pathways
DNA damage response36
9.0MDM2, PTEN
6
Show member pathways
Translation Non genomic rapid action of Androgen Receptor58
9.0MDM2, PTEN
79.0MDM2, PTEN
89.0MDM2, PTEN
9
Show member pathways
8.2MDM2, S100B, PTEN, GFAP
10
Show member pathways
8.2MDM2, S100B, PTEN, GFAP
118.1MDM2, NF2, PTEN, MGMT
12
Show member pathways
8.1MDM2, MUC1, PTEN, GFAP

Compounds for genes affiliated with Anaplastic Ependymoma

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Compounds related to Anaplastic Ependymoma according to GeneCards Suite gene sharing:

(show top 50)    (show all 81)
idCompoundScoreTop Affiliating Genes
12,3-cyclic nucleotide439.8S100B, GFAP
2n-ethyl-n-nitrosourea439.8GFAP, MGMT
3mucicarmine439.6MUC1, S100B
4alpha-amanitin439.6MDM2, GFAP
5eosin439.5S100B, MUC1, GFAP
6s 100439.5S100B, MUC1, GFAP
7reticulin439.5S100B, MUC1, GFAP
8acth439.2GFAP, MUC1, S100B
9mononucleotide439.1MGMT, PTEN
10deoxyribonucleic acid439.1NF2, PTEN, MGMT
117,12-dimethylbenz(a)anthracene439.0MGMT, MDM2
12crcs439.0MUC1, PTEN, MGMT
13formaldehyde43 2410.0S100B, MUC1, GFAP, MGMT
14imatinib43 49 1210.9PTEN, S100B, MDM2
15trastuzumab43 49 1210.8MDM2, MUC1, PTEN
16vincristine43 49 1210.8MDM2, PTEN, MGMT
17cyclophosphamide43 49 1210.7MDM2, PTEN, MGMT
185-aza-2deoxycytidine438.7MGMT, PTEN, MDM2
19methotrexate49 43 1210.7MDM2, MUC1, MGMT
20hematoxylin438.7GFAP, PTEN, MUC1, S100B
21methionine438.6S100B, PTEN, GFAP, MGMT
22ethanol43 49 24 1211.6GFAP, PTEN, MUC1, S100B
23etoposide43 49 59 1211.5MGMT, PTEN, S100B, MDM2
24aspartate438.5GFAP, PTEN, S100B, MDM2
255fluorouracil438.4MGMT, PTEN, MUC1, MDM2
26estradiol43 24 1210.4GFAP, PTEN, MUC1, MDM2
27thymidine43 249.4MGMT, GFAP, MUC1, S100B, MDM2
28genistein43 28 59 2 24 1213.4MDM2, PTEN, GFAP, MGMT
29dexamethasone43 49 28 1211.3MGMT, GFAP, MUC1, S100B, MDM2
30arginine438.3MDM2, S100B, PTEN, GFAP
31alanine438.2MDM2, S100B, PTEN, GFAP
32agar438.1GFAP, PTEN, MUC1, NF2, MDM2
33retinoic acid43 249.1MGMT, GFAP, PTEN, MUC1, S100B
34paclitaxel43 49 1210.1MGMT, GFAP, PTEN, S100B, MDM2
35glucose438.1MGMT, GFAP, PTEN, MUC1, S100B
36glycogen43 249.1GFAP, PTEN, MUC1, S100B, MDM2
37cyclic amp43 249.1GFAP, PTEN, MUC1, S100B, MDM2
38testosterone43 59 24 1211.0GFAP, PTEN, MUC1, S100B, MDM2
39oxygen43 249.0GFAP, PTEN, MUC1, S100B, MDM2
40nitric oxide43 24 1210.0MGMT, PTEN, MUC1, S100B, MDM2
41cisplatin43 49 59 1210.9MDM2, MUC1, PTEN, GFAP, MGMT
42threonine437.7GFAP, PTEN, MUC1, S100B, NF2, MDM2
43serine437.7GFAP, PTEN, MUC1, S100B, NF2, MDM2
44tyrosine437.7GFAP, PTEN, MUC1, S100B, NF2, MDM2
45vegf437.6MGMT, GFAP, PTEN, MUC1, S100B, MDM2
46estrogen437.5MGMT, GFAP, PTEN, MUC1, S100B, MDM2
47calcium43 49 24 1210.4MGMT, GFAP, PTEN, MUC1, S100B, MDM2
48paraffin437.2MDM2, MGMT, GFAP, PTEN, MUC1, S100B
49progesterone43 28 59 24 1211.2MGMT, GFAP, PTEN, MUC1, S100B, NF2
50cysteine437.2MGMT, GFAP, PTEN, MUC1, S100B, NF2

GO Terms for genes affiliated with Anaplastic Ependymoma

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00057377.3MDM2, NF2, S100B, MUC1, PTEN, GFAP

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1learning or memoryGO:00076119.4S100B, PTEN
2DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.4MDM2, MUC1
3memoryGO:00076139.4S100B, PTEN
4cellular response to hypoxiaGO:00714569.3S100B, MDM2
5negative regulation of cell migrationGO:00303369.3NF2, PTEN
6long-term synaptic potentiationGO:00602919.0S100B, PTEN, GFAP
7response to ethanolGO:00454718.8PTEN, MGMT
8positive regulation of cell proliferationGO:00082848.7PTEN, S100B, MDM2
9response to drugGO:00424938.7MGMT, PTEN, MDM2
10innate immune responseGO:00450878.6MDM2, S100B, PTEN

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

idNameGO IDScoreTop Affiliating Genes
1p53 bindingGO:00020399.3MDM2, MUC1

Products for genes affiliated with Anaplastic Ependymoma

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Sources for Anaplastic Ependymoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet