MCID: CHR019
MIFTS: 55

Choroid Plexus Carcinoma malady

Rare diseases, Neuronal diseases, Cancer diseases categories

Summaries for Choroid Plexus Carcinoma

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Wikipedia:65 A choroid plexus carcinoma is a type of choroid plexus tumor. more...

MalaCards based summary: Choroid Plexus Carcinoma, also known as malignant neoplasm of the choroid plexus, is related to rhabdoid tumor and adrenocortical carcinoma. 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:10 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:
10Disease Ontology, 43NIH Rare Diseases, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 63UMLS via Orphanet
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Choroid Plexus Carcinoma, Aliases & Descriptions:

Name: Choroid Plexus Carcinoma 10 43 12 49 62
Malignant Neoplasm of the Choroid Plexus 10 62
Malignant Neoplasm of Choroid Plexus 10 62
Malignant Tumor of Choroid Plexus 10 62
Tumor of the Choroid Plexus 10 62
 
Cancer of Choroid Plexus 10 62
Tumor of Choroid Plexus 10 62
Choroid Plexus Cancer 10 24
Choroid Plexus Neoplasms 62
Choroid Plexus Tumors 45


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
choroid plexus carcinoma:
Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe); Age of onset: Childhood


External Ids:

Disease Ontology10 DOID:5648, DOID:3540
NCIt40 C4533, C3473
MeSH35 D016545
Orphanet49 251899
UMLS via Orphanet63 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/GeneDecks gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdoid tumor30.6SMARCB1, SYP
2adrenocortical carcinoma30.5TP53, ADM, SYP
3ependymoma30.5PDGFRA, SYP
4choroid plexus papilloma30.4TP53
5pilocytic astrocytoma30.3PDGFRB, SYP
6glioblastoma multiforme30.2TP53, ADM, PDGFRA, PDGFRB
7rhabdomyosarcoma30.2SMARCB1, TP53, PDGFRA, PDGFRB
8glioblastoma30.2SMARCB1, TP53, ADM, PDGFRA, PDGFRB
9astrocytoma30.2PDGFRB, PDGFRA, CA2, SYP, TP53
10leukemia30.2SMARCA4, TP53, PDGFRA, PDGFRB
11choroiditis11.2
12atypical teratoid rhabdoid tumor10.4
13meningitis10.4
14childhood choroid plexus cancer10.3
15adult choroid plexus cancer10.3
16papilloma10.3
17li-fraumeni syndrome10.2
18rhabdoid tumors, somatic10.2
19disseminated intravascular coagulation10.2
20lymphoblastic leukemia10.2
21endolymphatic sac tumor10.2
22dysembryoplastic neuroepithelial tumor10.1SYP
23pineoblastoma10.1SYP
24subependymal giant cell astrocytoma10.1SYP
25gliosarcoma10.0PDGFRB
26adrenal cortical adenoma10.0SYP, ADM
27brain disease10.0SYP
28arteriosclerosis10.0ADM, PDGFRA
29lung benign neoplasm10.0SYP, TP53, SMARCA4
30bone marrow cancer10.0PDGFRA, PDGFRB
31chondrosarcoma10.0PDGFRB, PDGFRA
32hypereosinophilic syndrome, idiopathic, resistant to imatinib10.0PDGFRA, PDGFRB
33desmoid disease, hereditary10.0PDGFRB, PDGFRA
34systemic mastocytosis10.0PDGFRB, PDGFRA
35endometrial stromal sarcoma10.0PDGFRA, PDGFRB
36hypereosinophilic syndrome10.0PDGFRA, PDGFRB
37chronic myelomonocytic leukemia10.0PDGFRB, PDGFRA
38meningioma, familial10.0SMARCB1, SYP, PDGFRB
39chordoma10.0PDGFRB, PDGFRA
40mastocytosis10.0PDGFRA, PDGFRB
41small cell cancer of the lung, somatic10.0PDGFRA, SYP, TP53
42myelofibrosis10.0PDGFRA, PDGFRB
43polycythemia vera10.0PDGFRA, PDGFRB
44brain cancer10.0PDGFRB, SYP, TP53
45esophageal cancer10.0PDGFRB, TP53
46gastrointestinal stromal tumor10.0PDGFRA, PDGFRB
47retinoblastoma10.0SMARCB1, SMARCA4, TP53, SYP
48tuberous sclerosis10.0PDGFRB, SYP
49pancreatic cancer10.0PDGFRB, CA2, SYP
50neurilemmoma10.0PDGFRB, PDGFRA, SMARCB1

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 Carcinoma24

Anatomical Context for Choroid Plexus Carcinoma

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MalaCards organs/tissues related to Choroid Plexus Carcinoma:

33
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:

7
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/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7PDGFRA, TP53
2
Show member pathways
Development Ligand dependent activation of the ESR1 AP 1 pathway60
9.5SMARCA4, SMARCB1
39.5SMARCA4, SMARCB1
49.5PDGFRA, PDGFRB
5
Show member pathways
PDGF Pathway38
9.5PDGFRB, PDGFRA
69.5PDGFRB, PDGFRA
7
Show member pathways
9.2SMARCB1, SMARCA4, TP53
89.2PDGFRB, PDGFRA, TP53
99.2TP53, PDGFRA, PDGFRB
109.2TP53, PDGFRA, PDGFRB
119.2PDGFRB, PDGFRA, TP53
129.2PDGFRB, PDGFRA, TP53
13
Show member pathways
MAPK signaling pathway38
9.2TP53, PDGFRA, PDGFRB
14
Show member pathways
Signaling Pathways in Glioblastoma38
9.2PDGFRB, PDGFRA, TP53
15
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
9.2TP53, PDGFRA, PDGFRB
16
Show member pathways
9.2TP53, PDGFRA, PDGFRB
179.2PDGFRB, PDGFRA, TP53
18
Show member pathways
9.2TP53, PDGFRA, PDGFRB
19
Show member pathways
8.3PDGFRB, PDGFRA, TP53, SMARCA4, SMARCB1

Compounds for genes affiliated with Choroid Plexus Carcinoma

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Compounds related to Choroid Plexus Carcinoma according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1dmpq dihydrochloride619.9PDGFRA, PDGFRB
2su 16f619.9PDGFRA, PDGFRB
3su 6668619.9PDGFRA, PDGFRB
4sunitinib malate619.9PDGFRA, PDGFRB
5dutp459.9TP53, ADM, SYP
6pkc 412459.8PDGFRA, PDGFRB
7ag-1296459.8PDGFRB, PDGFRA
8topotecan45 1310.8TP53, PDGFRB
9pazopanib51 1310.8PDGFRB, PDGFRA
10sunitinib45 51 1311.8PDGFRB, PDGFRA
11depsipeptide459.8PDGFRB, TP53
12regorafenib51 1310.7PDGFRB, PDGFRA
13streptozotocin459.7SYP, ADM
14flavopiridol45 1310.7PDGFRB, TP53
15ang ii459.6ADM, PDGFRB
16norepinephrine45 26 1311.5CA2, SYP, ADM
17actinomycin d459.5CA2, ADM, TP53
18calcitriol45 61 26 1312.4PDGFRB, PDGFRA, CA2
19phosphotyrosine459.3PDGFRB, PDGFRA, SYP
20histidine459.3SMARCA4, SYP, CA2
21h2o2459.3TP53, ADM, SYP, PDGFRB
22cyclic amp45 2610.1CA2, SYP, ADM, SMARCA4
23arginine459.1SMARCA4, TP53, ADM, CA2
24steroid459.0SMARCA4, ADM, SYP, CA2
25proline458.9PDGFRB, CA2, TP53
26testosterone45 61 26 1311.9SMARCA4, ADM, SYP, PDGFRB
27paraffin458.9TP53, ADM, SYP, PDGFRA, PDGFRB
28vegf458.9PDGFRB, PDGFRA, SYP, ADM, TP53
29progesterone45 30 61 26 1312.7PDGFRB, SYP, ADM, TP53, SMARCA4
30cysteine458.6PDGFRB, CA2, SYP, ADM, SMARCA4
31lipid458.5SMARCA4, ADM, SYP, CA2, PDGFRB
32atp45 309.5SMARCA4, ADM, CA2, PDGFRA, PDGFRB
33retinoic acid45 269.5TP53, ADM, SYP, CA2, PDGFRA, PDGFRB
34oligonucleotide458.2SMARCA4, TP53, ADM, CA2, PDGFRA, PDGFRB
35tyrosine458.1SMARCA4, ADM, SYP, CA2, PDGFRA, PDGFRB
36estrogen457.9PDGFRB, SMARCA4, TP53, ADM, SYP, CA2

GO Terms for genes affiliated with Choroid Plexus Carcinoma

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Cellular components related to Choroid Plexus Carcinoma according to GeneCards/GeneDecks:

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/GeneDecks:

(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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vascular endothelial growth factor bindingGO:00380859.6PDGFRB, PDGFRA
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:00055157.5PDGFRB, PDGFRA, CA2, ADM, TP53, SMARCA4

Products for genes affiliated with Choroid Plexus Carcinoma

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Sources for Choroid Plexus Carcinoma

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet