MCID: CHR019
MIFTS: 48

Choroid Plexus Carcinoma malady

Rare diseases, Neuronal diseases, Cancer diseases categories

Summaries for Choroid Plexus Carcinoma

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Wikipedia:63 A choroid plexus carcinoma is a type of choroid plexus tumor. more...

MalaCards based summary: Choroid Plexus Carcinoma, also known as malignant tumor of choroid plexus, is related to choroid plexus papilloma and rhabdoid tumor. An important gene associated with Choroid Plexus Carcinoma is TP53 (tumor protein p53), and among its related pathways are Selected targets of Oct 3 4 and Transcription Ligand dependent activation of the ESR1 SP pathway. The compounds dmpq dihydrochloride and su 16f have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related mouse phenotypes are liver/biliary system and tumorigenesis.

Disease Ontology:9 A choroid plexus cancer that has material basis in epithelial cells of the choroid plexus.

Aliases & Classifications for Choroid Plexus Carcinoma

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 61UMLS via Orphanet
See all sources

Choroid Plexus Carcinoma, Aliases & Descriptions:

Name: Choroid Plexus Carcinoma 9 41 11 47 60
Malignant Tumor of Choroid Plexus 9 60
Choroid Plexus Cancer 9 22
Malignant Neoplasm of the Choroid Plexus 9
Malignant Neoplasm of Choroid Plexus 9
 
Tumor of the Choroid Plexus 9
Cancer of Choroid Plexus 9
Choroid Plexus Neoplasms 60
Tumor of Choroid Plexus 9
Choroid Plexus Tumors 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
choroid plexus carcinoma:
Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe); Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:5648, DOID:3540
NCIt38 C4533, C3473
MeSH33 D016545
Orphanet47 251899
UMLS via Orphanet61 C0431109

Related Diseases for Choroid Plexus Carcinoma

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Diseases in the Choroid Plexus Carcinoma family:

Adult Choroid Plexus Cancer

Diseases related to Choroid Plexus Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1choroid plexus papilloma31.0TP53
2rhabdoid tumor31.0SYP, SMARCB1
3adrenocortical carcinoma30.7TP53, SYP, ADM
4ependymoma30.7SYP, PDGFRA
5pilocytic astrocytoma30.4PDGFRB, SYP
6rhabdomyosarcoma29.8SMARCB1, PDGFRB, TP53, PDGFRA
7glioblastoma multiforme29.8PDGFRA, PDGFRB, ADM, TP53
8glioblastoma29.6TP53, PDGFRA, ADM, SMARCB1, PDGFRB
9astrocytoma29.4SYP, TP53, PDGFRA, PDGFRB, CA2
10leukemia29.4SMARCA4, TP53, PDGFRA, PDGFRB
11choroiditis11.2
12dysembryoplastic neuroepithelial tumor10.5SYP
13pineoblastoma10.4SYP
14childhood choroid plexus cancer10.4
15adult choroid plexus cancer10.4
16subependymal giant cell astrocytoma10.4SYP
17atypical teratoid rhabdoid tumor10.4
18meningitis10.4
19papilloma10.3
20gliosarcoma10.2PDGFRB
21li-fraumeni syndrome10.2
22rhabdoid tumors, somatic10.2
23disseminated intravascular coagulation10.2
24lymphoblastic leukemia10.2
25endolymphatic sac tumor10.2
26adrenal cortical adenoma10.2SYP, ADM
27brain disease10.1SYP
28arteriosclerosis10.1ADM, PDGFRA
29lung benign neoplasm10.0SMARCA4, TP53, SYP
30bone marrow cancer10.0PDGFRA, PDGFRB
31chondrosarcoma10.0PDGFRB, PDGFRA
32hypereosinophilic syndrome, idiopathic, resistant to imatinib10.0PDGFRB, PDGFRA
33desmoid disease, hereditary10.0PDGFRB, PDGFRA
34systemic mastocytosis10.0PDGFRA, PDGFRB
35endometrial stromal sarcoma10.0PDGFRA, PDGFRB
36hypereosinophilic syndrome10.0PDGFRB, PDGFRA
37chronic myelomonocytic leukemia10.0PDGFRA, PDGFRB
38meningioma, familial10.0SMARCB1, PDGFRB, SYP
39chordoma10.0PDGFRA, PDGFRB
40mastocytosis9.9PDGFRA, PDGFRB
41small cell cancer of the lung, somatic9.9SYP, PDGFRA, TP53
42myelofibrosis9.9PDGFRB, PDGFRA
43polycythemia vera9.9PDGFRB, PDGFRA
44brain cancer9.9SYP, PDGFRB, TP53
45esophageal cancer9.9TP53, PDGFRB
46gastrointestinal stromal tumor9.9PDGFRB, PDGFRA
47retinoblastoma9.9SYP, TP53, SMARCB1, SMARCA4
48tuberous sclerosis9.9PDGFRB, SYP
49pancreatic cancer9.9SYP, CA2, PDGFRB
50neurilemmoma9.9SMARCB1, PDGFRA, PDGFRB

Graphical network of the top 20 diseases related to Choroid Plexus Carcinoma:



Diseases related to choroid plexus carcinoma

Symptoms for Choroid Plexus Carcinoma

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Drugs & Therapeutics for Choroid Plexus Carcinoma

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Drug clinical trials:

Search ClinicalTrials for Choroid Plexus Carcinoma

Search NIH Clinical Center for Choroid Plexus Carcinoma

Genetic Tests for Choroid Plexus Carcinoma

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Genetic tests related to Choroid Plexus Carcinoma:

id Genetic test Affiliating Genes
1 Choroid Plexus Carcinoma22

Anatomical Context for Choroid Plexus Carcinoma

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MalaCards organs/tissues related to Choroid Plexus Carcinoma:

31
Bone marrow, Bone

Animal Models for Choroid Plexus Carcinoma or affiliated genes

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Publications for Choroid Plexus Carcinoma

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Articles related to Choroid Plexus Carcinoma:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
Choroid plexus carcinoma in children: The Head Start experience. (25662896)
2015
2
Effects of adjuvant chemotherapy and radiation on overall survival in children with choroid plexus carcinoma. (25106865)
2014
3
Gross total resection improves overall survival in children with choroid plexus carcinoma. (24166581)
2014
4
Response to combined radiotherapy and chemotherapy of a leptomeningeal spread from choroid plexus carcinoma: case report. (25308727)
2014
5
Recurrent adult choroid plexus carcinoma treated with high-dose chemotherapy and syngeneic stem cell (bone marrow) transplant. (23427033)
2013
6
Pseudoprogression after proton beam irradiation for a choroid plexus carcinoma in pediatric patient: MRI and PET imaging patterns. (23151741)
2013
7
Coincident choroid plexus carcinoma and adrenocortical tumor in an infant. (22752623)
2013
8
The cytologic findings in choroid plexus carcinoma: report of a case with differential diagnosis. (22180231)
2012
9
Imatinib mesylate treatment for platelet-derived growth factor receptor alfa-positive choroid plexus carcinoma. (24765448)
2012
10
A rare case of congenital choroid plexus carcinoma. (22881717)
2012
11
MGMT promoter methylation and temozolomide response in choroid plexus carcinoma. (21442238)
2011
12
Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. (21445348)
2011
13
Melanotic choroid plexus carcinoma of the posterior fossa. (21779301)
2011
14
Invasive pneumococcal disease following treatment for choroid plexus carcinoma. (20076974)
2010
15
Use of ifosfamide, carboplatin, and etoposide chemotherapy in choroid plexus carcinoma. (20515336)
2010
16
Choroid plexus carcinoma cells in the cerebrospinal fluid of a Staffordshire Bull Terrier. (21070306)
2010
17
Choroid plexus carcinoma: report of two cases. (19679976)
2009
18
Supratentorial, extraventricular choroid plexus carcinoma in an adult: case report. (19834361)
2009
19
Choroid plexus carcinoma. (18684041)
2008
20
Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma. (18762572)
2008
21
Choroid plexus carcinoma: a rare condition and its therapeutic management. (17594955)
2007
22
Choroid plexus carcinoma secreting carbohydrate antigen 19-9 in an adult. Case report. (16723819)
2006
23
Images in neuro-oncology: choroid plexus carcinoma. (16794748)
2006
24
Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. (15925506)
2005
25
Choroid plexus carcinoma in the adult: is there a role for chemotherapy? (16270538)
2005
26
Successful therapy of choroid plexus carcinoma. (15236288)
2004
27
Choroid plexus carcinoma presented with spinal dysfunction caused by a drop metastasis: a case report. (12814258)
2003
28
Efficacy of sequential chemotherapy including methotrexate and doxorubicin in an infant with partially resected choroid plexus carcinoma. (12476023)
2003
29
Coincident choroid plexus carcinoma and adrenocortical carcinoma with elevated p53 expression: a case report of an 18-month-old boy with no family history of cancer. (11800650)
2002
30
Primary choroid plexus carcinoma producing carbohydrate antigen 19-9. (11128618)
2000
31
Volumetric reduction of a choroid plexus carcinoma using preoperative chemotherapy. (10533729)
1999
32
Magnetic resonance imaging of a choroid plexus carcinoma and meningeal carcinomatosis in a dog. (10519302)
1999
33
Radiation therapy and survival in choroid plexus carcinoma. (10382700)
1999
34
Production and secretion of endothelin-1 by cultured choroid plexus carcinoma cells. (9595484)
1998
35
Choroid plexus carcinoma in an infant. (9170025)
1997
36
Establishment and characterization of choroid plexus carcinoma cell lines: connection between choroid plexus and immune systems. (8878450)
1996
37
Endoreduplication and telomeric association in a choroid plexus carcinoma. (8646745)
1996
38
Choroid plexus carcinoma in the lateral ventricle--case report. (8532130)
1995
39
Choroid plexus carcinoma of the lateral ventricle. Report of a case in an adult. (8187382)
1994
40
Magnetic resonance imaging in a dog with choroid plexus carcinoma. (8286551)
1993
41
Bilateral choroid plexus carcinoma of the lateral ventricles. US, CT and MR findings. (1501944)
1992
42
Primary choroid plexus carcinoma in an infant. Report of a case evaluated by MRI. (1306205)
1992
43
Current management of choroid plexus carcinoma in children. (1822687)
1991-1992
44
Choroid plexus carcinoma in siblings. (2307984)
1990
45
Choroid plexus carcinoma in a dog. (2723160)
1989
46
Choroid plexus carcinoma: report of a case with radiographic and ultrastructure correlation. (3710847)
1986
47
The fine structure of choroid plexus carcinoma. (6662512)
1983
48
Choroid plexus carcinoma. Report of a case with immunohistochemical and ultrastructural observations. (6821827)
1983
49
Choroid plexus carcinoma in a child: a case report. (539483)
1979
50
Choroid plexus carcinoma--a case report. (1028945)
1976

Variations for Choroid Plexus Carcinoma

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Clinvar genetic disease variations for Choroid Plexus Carcinoma:

6
id Gene Variation Type Significance SNP ID Assembly Location
1TP53TP53, 7-BP INS, NT13160insertionPathogenic

Expression for genes affiliated with Choroid Plexus Carcinoma

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Search GEO for disease gene expression data for Choroid Plexus Carcinoma.

Pathways for genes affiliated with Choroid Plexus Carcinoma

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Pathways related to Choroid Plexus Carcinoma according to GeneCards Suite gene sharing:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Development Ligand dependent activation of the ESR1 AP 1 pathway58
9.5SMARCA4, SMARCB1
29.5SMARCA4, SMARCB1
39.5PDGFRA, PDGFRB
4
Show member pathways
PDGF Pathway36
9.5PDGFRA, PDGFRB
59.5PDGFRA, PDGFRB
6
Show member pathways
9.2TP53, SMARCB1, SMARCA4
79.2TP53, PDGFRA, PDGFRB
89.2PDGFRA, TP53, PDGFRB
99.2PDGFRA, PDGFRB, TP53
109.2TP53, PDGFRB, PDGFRA
119.2TP53, PDGFRB, PDGFRA
12
Show member pathways
MAPK signaling pathway36
9.2TP53, PDGFRA, PDGFRB
13
Show member pathways
Signaling Pathways in Glioblastoma36
9.2PDGFRB, PDGFRA, TP53
14
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
9.2PDGFRA, TP53, PDGFRB
15
Show member pathways
9.2TP53, PDGFRA, PDGFRB
169.2PDGFRB, PDGFRA, TP53
17
Show member pathways
9.2TP53, PDGFRA, PDGFRB
18
Show member pathways
8.3SMARCB1, SMARCA4, TP53, PDGFRA, PDGFRB

Compounds for genes affiliated with Choroid Plexus Carcinoma

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Compounds related to Choroid Plexus Carcinoma according to GeneCards Suite gene sharing:

(show all 36)
idCompoundScoreTop Affiliating Genes
1dmpq dihydrochloride599.9PDGFRA, PDGFRB
2su 16f599.9PDGFRB, PDGFRA
3sunitinib malate599.9PDGFRB, PDGFRA
4su 6668599.9PDGFRB, PDGFRA
5dutp439.9SYP, ADM, TP53
6pkc 412439.8PDGFRA, PDGFRB
7ag-1296439.8PDGFRB, PDGFRA
8topotecan43 1210.8PDGFRB, TP53
9pazopanib49 1210.8PDGFRB, PDGFRA
10sunitinib43 49 1211.8PDGFRB, PDGFRA
11depsipeptide439.8TP53, PDGFRB
12regorafenib49 1210.7PDGFRB, PDGFRA
13streptozotocin439.7ADM, SYP
14flavopiridol43 1210.7PDGFRB, TP53
15ang ii439.6ADM, PDGFRB
16norepinephrine43 24 1211.5ADM, SYP, CA2
17actinomycin d439.5ADM, CA2, TP53
18calcitriol43 59 24 1212.4PDGFRB, CA2, PDGFRA
19phosphotyrosine439.3SYP, PDGFRB, PDGFRA
20histidine439.3SMARCA4, SYP, CA2
21h2o2439.3TP53, ADM, SYP, PDGFRB
22cyclic amp43 2410.1CA2, SYP, ADM, SMARCA4
23arginine439.1SMARCA4, ADM, TP53, CA2
24steroid439.0ADM, CA2, SYP, SMARCA4
25proline438.9PDGFRB, CA2, TP53
26testosterone43 59 24 1211.9PDGFRB, SYP, ADM, SMARCA4
27paraffin438.9TP53, SYP, PDGFRA, PDGFRB, ADM
28vegf438.9PDGFRB, PDGFRA, SYP, ADM, TP53
29progesterone43 28 59 24 1212.7PDGFRB, SYP, TP53, SMARCA4, ADM
30cysteine438.6PDGFRB, CA2, SYP, ADM, SMARCA4
31lipid438.5SYP, SMARCA4, ADM, PDGFRB, CA2
32atp43 289.5ADM, PDGFRA, PDGFRB, CA2, SMARCA4
33retinoic acid43 249.5TP53, ADM, SYP, CA2, PDGFRA, PDGFRB
34oligonucleotide438.2TP53, SMARCA4, ADM, PDGFRA, CA2, PDGFRB
35tyrosine438.1PDGFRB, ADM, PDGFRA, CA2, SYP, SMARCA4
36estrogen437.9ADM, PDGFRB, CA2, SYP, TP53, SMARCA4

GO Terms for genes affiliated with Choroid Plexus Carcinoma

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Cellular components related to Choroid Plexus Carcinoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1npBAF complexGO:00715649.5SMARCA4, SMARCB1
2SWI/SNF complexGO:00165149.5SMARCA4, SMARCB1
3nBAF complexGO:00715659.4SMARCA4, SMARCB1
4intrinsic component of plasma membraneGO:00312269.2PDGFRB, PDGFRA

Biological processes related to Choroid Plexus Carcinoma according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1blastocyst hatchingGO:00018359.8SMARCA4, SMARCB1
2positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:00380919.8PDGFRB, PDGFRA
3metanephric glomerular capillary formationGO:00722779.8PDGFRB, PDGFRA
4positive regulation by host of viral transcriptionGO:00439239.8SMARCA4, SMARCB1
5retina vasculature development in camera-type eyeGO:00612989.8PDGFRA, PDGFRB
6positive regulation of phospholipase C activityGO:00108639.8PDGFRA, PDGFRB
7positive regulation of reactive oxygen species metabolic processGO:020003799.8TP53, PDGFRB
8nucleosome disassemblyGO:00063379.8SMARCA4, SMARCB1
9cardiac myofibril assemblyGO:00550039.7PDGFRB, PDGFRA
10adrenal gland developmentGO:00303259.7PDGFRA, PDGFRB
11positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.6PDGFRB, PDGFRA
12odontogenesis of dentin-containing toothGO:00424759.6ADM, CA2, PDGFRA
13platelet-derived growth factor receptor signaling pathwayGO:00480089.6PDGFRA, PDGFRB
14vasculogenesisGO:00015709.5ADM, SMARCA4
15cell chemotaxisGO:00603269.5PDGFRB, PDGFRA
16positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.4PDGFRA, PDGFRB
17in utero embryonic developmentGO:00017019.4PDGFRB, PDGFRA, TP53
18negative regulation of cell proliferationGO:00082859.2ADM, TP53, SMARCB1

Molecular functions related to Choroid Plexus Carcinoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1vascular endothelial growth factor bindingGO:00380859.6PDGFRA, PDGFRB
2Tat protein bindingGO:00309579.5SMARCB1, SMARCA4
3platelet-derived growth factor bindingGO:00484079.4PDGFRB, PDGFRA
4p53 bindingGO:00020399.3TP53, SMARCA4, SMARCB1
5platelet-derived growth factor receptor bindingGO:00051619.2PDGFRA, PDGFRB
6protein bindingGO:00055157.5ADM, SMARCA4, SMARCB1, CA2, PDGFRA, PDGFRB

Products for genes affiliated with Choroid Plexus Carcinoma

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Sources for Choroid Plexus Carcinoma

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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