MCID: CHR029
MIFTS: 70

Choroid Plexus Papilloma malady

Rare diseases, Neuronal diseases, Cancer diseases categories
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Summaries for Choroid Plexus Papilloma

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43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Choroid plexus papilloma (cpp) ia a non-cancerous (benign) tumor of the choroid plexus, a network of blood vessels in the brain which surrounds the ventricles and produces the fluid surrounding the brain and spinal cord (cerebrospinal fluid, or csf). cpps most commonly occur in children but may occur in adults. symptoms are generally due to increased secretion of csf by tumor cells, causing hydrocephalus and subsequent intracranial pressure. affected individuals may experience headaches, nausea and vomiting, drowsiness, ocular or gaze palsies, optic nerve swelling (papilledema), visual disturbances, and possible blindness. infants, especially those with a tumor in the third ventricle, can present with hydrocephalus or macrocephaly. some cases of cpp may result from a mutation in the tp53 gene. complete tumor removal often cures the condition and may also relieve the hydrocephalus. last updated: 12/10/2012

MalaCards: Choroid Plexus Papilloma, also known as papilloma of choroid plexus, is related to papilloma and choroid plexus carcinoma, and has symptoms including central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer, neoplasms/tumors and structural anomalies of the nervous system. An important gene associated with Choroid Plexus Papilloma is TP53 (tumor protein p53), and among its related pathways are Glioma and Spinal Cord Injury. The compounds 5-methylcytosine and o6-methylguanine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone, and related mouse phenotypes are muscle and digestive/alimentary.

Wikipedia:65 A Choroid plexus papilloma (CPP) is a rare, slow-growing, histologically benign intracranial neoplasm or... more...

Description from OMIM:47 260500

Aliases & Classifications for Choroid Plexus Papilloma

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 40NCIt, 58SNOMED-CT, 35MeSH, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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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: 1-9/1000000; Age of onset: Childhood
papilloma of choroid plexus:
Age of onset: Variable


Aliases & Descriptions:

choroid plexus papilloma 8 9 43 47 10 62
papilloma of choroid plexus 43 22 49
childhood choroid plexus papilloma 8 62
choroid plexus carcinoma 49 62
choroid plexus papilloma, no icd-o subtype 8
pediatric papilloma of choroid plexus 8
papilloma of the choroid plexus 8
choroid plexus papilloma nos 8
papilloma choroid plexus 45


External Ids:

Disease Ontology8 DOID:2626
NCIt40 C3698
OMIM47 260500
MeSH35 D020288
SNOMED-CT58 18021007, 189911002
SNOMED-CT via Orphanet59 88252006, 18021007
UMLS via Orphanet63 C0431109, C0205770
MESH via Orphanet36 D020288
ICD10 via Orphanet26 D33.0

Related Diseases for Choroid Plexus Papilloma

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17GeneCards, 18GeneDecks
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Diseases related to Choroid Plexus Papilloma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 159)
idRelated DiseaseScoreTop Affiliating Genes
1papilloma32.3TP53, RASSF1
2choroid plexus carcinoma32.0SMARCB1
3ependymoma30.7S100B, RASSF1, MUC1, TTR, GFAP, DAPK1
4giant cell glioblastoma30.6GFAP
5meningioma30.5MUC1, IGF2, SMARCB1, GFAP, VIM, S100B
6rhabdoid tumor30.5IGF2, SMARCB1, VIM, MUC1
7papillary ependymoma30.5S100B, GFAP
8dermatofibrosarcoma protuberans30.4MUC1, VIM, S100B
9pilocytic astrocytoma30.3S100B, GFAP
10hemangioblastoma30.3SLC2A1, MUC1, S100B, GFAP
11medulloblastoma30.2TP53, GFAP, SMARCB1, S100B, IGF2, DAPK1
12glioblastoma multiforme30.0SMARCB1, GFAP, TP53, RASSF1, RARB, S100B
13astrocytoma29.9DAPK1, GFAP, SLC2A1, TP53, VIM, S100B
14choroiditis11.5
15atypical choroid plexus papilloma10.8
16hydrocephalus10.7
17aicardi syndrome10.6
18polyploidy10.4
19atypical teratoid rhabdoid tumor10.3
20adrenocortical carcinoma10.3
21meningitis10.3
22cleft lip10.3
23neurofibromatosis10.3
24dermoid cyst of ovary10.3
25akinetic mutism10.3
26mutism10.3
27temporal lobe epilepsy10.3
28cerebritis10.3
29dermatofibrosarcoma10.3
30arachnoiditis10.3
31trigeminal neuralgia10.3
32brain disease10.3
33chondroma10.3
34cystic teratoma10.3
35pulmonary embolism10.3
36schizophrenia10.3
37bobble-head doll syndrome10.3
38germinoma10.3
39multifocal choroiditis10.3
40pineal cyst10.3
41cavernous malformation10.3
42dysphagia10.3
43head injury10.3
44myoclonus10.3
45teratoma10.3
46posterior fossa tumors10.3
47li-fraumeni syndrome10.2
48disseminated intravascular coagulation10.2
49leukemia10.2
50lymphoblastic leukemia10.2

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



Diseases related to choroid plexus papilloma

Symptoms for Choroid Plexus Papilloma

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

260500

Clinical features from OMIM:

260500

Symptoms:

49 (show all 10)
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • neoplasms/tumors
  • structural anomalies of the nervous system
  • mild visual loss/impaired visual acuity
  • hydrocephaly
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypertonia/spasticity/rigidity/stiffness
  • autosomal recessive inheritance

Drugs & Therapeutics for Choroid Plexus Papilloma

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Choroid Plexus Papilloma

Search NIH Clinical Center for Choroid Plexus Papilloma

Genetic Tests for Choroid Plexus Papilloma

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22GTR
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Genetic tests related to Choroid Plexus Papilloma:

id Genetic test Affiliating Genes
1 Choroid Plexus Papilloma22

Anatomical Context for Choroid Plexus Papilloma

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33MalaCards
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MalaCards organs/tissues related to Choroid Plexus Papilloma:

33
Brain, Spinal cord, Bone, Pineal, Temporal lobe, Pituitary, T cells, Ovary

Animal Models for Choroid Plexus Papilloma or affiliated genes

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37MGI
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Publications for Choroid Plexus Papilloma

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52PubMed
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Articles related to Choroid Plexus Papilloma:

(show top 50)    (show all 259)
idTitleAuthorsYear
1
Management of disseminated choroid plexus papilloma: A case study. (24038916)
2014
2
Densely calcified atypical choroid plexus papilloma at the cerebellopontine angle in an adult. (24303341)
2013
3
Choroid plexus papilloma and Pierpont syndrome. (23176139)
2013
4
A Case of Difficult Management of Fluid-Electrolyte Imbalance in Choroid Plexus Papilloma. (24257496)
2013
5
Progression of choroid plexus papilloma. (23850048)
2013
6
A sacro-caudal spinal cord choroid plexus papilloma in a shar-pei dog. (23731182)
2013
7
MR Findings of Primary Choroid Plexus Papilloma of the Cerebellopontine Angle: Report of Three Cases and Literature Reviews. (23736865)
2013
8
Bevacizumab use in disseminated choroid plexus papilloma. (23761024)
2013
9
Choroid plexus papilloma presenting as schizophrenia: a case report. (23487217)
2013
10
Chemotaxis of T-cells after infection of human choroid plexus papilloma cells with Echovirus 30 in an in vitro model of the blood-cerebrospinal fluid barrier. (23000117)
2012
11
A case of choroid plexus papilloma with stromal sclerosis and indistinct papillary structures. (21968641)
2012
12
Endoscopic removal of a cystic choroid plexus papilloma of the third ventricle: a case report and review of the literature. (21414714)
2011
13
Combined staged endoscopic and microsurgical approach of a third ventricular choroid plexus papilloma in an infant. (22278793)
2011
14
Prenatal diagnosis and successful postnatal therapy of an atypical choroid plexus papilloma-Case report and review of literature. (20564313)
2010
15
Polyploidy in atypical grade II choroid plexus papilloma of the posterior fossa. (18627486)
2009
16
Multiple dicentric chromosomes behind polyploidy in grade II atypical choroid plexus papilloma: a complementary cytogenetic evaluation. (19077039)
2009
17
Primary choroid plexus papilloma of the sacral nerve roots. (19119933)
2009
18
Grade II atypical choroid plexus papilloma with normal karyotype. (19554332)
2009
19
Infant with unusually large choroid plexus papilloma undergoing emergency surgery. Case report with special emphasis on the surgical strategy. (16465083)
2006
20
Choroid plexus papilloma developing in a dermoid cyst of ovary. (16879402)
2006
21
Delayed occurrence of multiple spinal drop metastases from a posterior fossa choroid plexus papilloma. Case report. (16776361)
2006
22
Choroid plexus papilloma in a Scottish highland cow. (16952368)
2006
23
Choroid plexus papilloma associated with developmental delay. (15345882)
2004
24
Temporal lobe epilepsy caused by choroid plexus papilloma in the temporal horn. (15200285)
2004
25
Pineal region lesion masquerading choroid plexus papilloma: case report. (12648913)
2003
26
Choroid plexus papilloma of the fourth ventricle. (12593575)
2002
27
Choroid plexus papilloma in the posterior cranial fossa: MR, CT, and angiographic findings. (11679220)
2001
28
Segmental myoclonus as the sole manifestation of a choroid plexus papilloma in the posterior fossa. Case report. (11780907)
2001
29
Choroid plexus papilloma of cerebellopontine angle with extension to foramen magnum. (10339715)
1999
30
Immunohistochemical study of insulin-like growth factor II (IGF-II) and insulin-like growth factor binding protein-2 (IGFBP-2) in choroid plexus papilloma. (10406004)
1999
31
Choroid plexus papilloma. (9880959)
1998
32
CSF dissemination of a benign choroid plexus papilloma (CPP) (9404596)
1997
33
Choroid plexus papilloma and cysts in the Aicardi syndrome: case reports. (9520082)
1997
34
Germinoma and choroid plexus papilloma coexisting in the fourth ventricle. (8955448)
1996
35
A choroid plexus papilloma arising from an incidental pineal cyst. (8733971)
1996
36
Bone formation within a choroid plexus papilloma. (8835212)
1995
37
Primary choroid plexus papilloma of the cerebellopontine angle: magnetic resonance imaging, computed tomographic and angiographic appearances. (1393408)
1992
38
Congenital choroid plexus papilloma and giant nevomelanocytic nevus: report of a case. (2347972)
1990
39
Neuroradiology case of the day. Choroid plexus papilloma, third ventricle. (2718873)
1989
40
An immunohistochemical study of cytokeratin and glial fibrillary acidic protein in choroid plexus papilloma. (2450443)
1988
41
Choroid plexus papilloma in a 4-month-old child: a case report. (3298395)
1986
42
Choroid plexus papilloma with cerebrospinal fluid rhinorrhea. (6495170)
1984
43
A case of choroid plexus papilloma in the lateral ventricle, complicated by a neuroepithelial cyst in the posterior fossa in a newborn infant. (6521416)
1984
44
Electron microscopic observations on malignant choroid plexus papilloma. (6877519)
1983
45
Malignant choroid plexus papilloma with extraneural metastasis. Case report. (7351566)
1980
46
Hydrocephalus aggravated after total excision of a choroid plexus papilloma [proceedings]. (290267)
1979
47
Cerebrospinal fluid overproduction and hydrocephalus associated with choroid plexus papilloma. (4544345)
1974
48
Choroid plexus papilloma mimicking degenerative brain disease in childhood. (5060466)
1972
49
Choroid plexus papilloma in a dog. (5157934)
1971
50
Primary choroid plexus papilloma of the cerebellopontine angle. Case report. (5305210)
1969

Variations for Choroid Plexus Papilloma

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Choroid Plexus Papilloma:

1
id Gene Name Type Significance SNP ID Assembly Location
1TP53TP53, 7-BP INS, NT13160insertionPathogenic/card/choroid_plexus_papilloma

Expression for genes affiliated with Choroid Plexus Papilloma

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Choroid Plexus Papilloma

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

Pathways for genes affiliated with Choroid Plexus Papilloma

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50PathCards, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore, 53QIAGEN
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Pathways related to Choroid Plexus Papilloma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Signaling Pathways in Glioblastoma38
9.2DAPK1, TP53, RASSF1, RARB
29.2VIM, TP53, GFAP
39.1SLC2A1, TP53, DAPK1
48.4SLC2A1, RARB, RASSF1, TP53, DAPK1
5
Show member pathways
7.7IGF2, GFAP, TP53, VIM, MUC1, RARB

Compounds for genes affiliated with Choroid Plexus Papilloma

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45Novoseek, 24HMDB, 3BitterDB, 51PharmGKB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Choroid Plexus Papilloma according to GeneCards/GeneDecks:

(show top 50)    (show all 125)
idCompoundScoreTop Affiliating Genes
15-methylcytosine45 2410.6RASSF1, TP53, DAPK1, RARB
2o6-methylguanine459.6RARB, RASSF1, TP53, DAPK1
3megestrol acetate459.5IGF2, TTR, SHBG
4sodium bisulfite459.4IGF2, RASSF1, RARB, DAPK1
5crcs459.3DAPK1, TP53, MUC1, RASSF1
6n-(4-hydroxyphenyl)retinamide459.2VIM, TP53, RARB, IGF2
72,4-dinitrophenol459.0IGF2, TTR, SLC2A1
8retinoid459.0VIM, TP53, TTR, SHBG, RARB
9mucicarmine458.9VIM, MUC1, S100B
10eosin458.8S100B, MUC1, VIM, GFAP
11s 100458.8S100B, GFAP, VIM, MUC1
12reticulin458.8GFAP, VIM, MUC1, S100B
13dbc-amp458.7S100B, VIM, GFAP, IGF2
14hematoxylin458.7MUC1, S100B, GFAP, VIM
15folate458.6TTR, MUC1, RASSF1, VIM, IGF2
16progestin458.6SHBG, IGF2, VIM, MUC1
17methionine458.5TTR, VIM, S100B, DAPK1, GFAP, RASSF1
18acth458.4S100B, MUC1, SHBG, IGF2, GFAP
195-aza-2deoxycytidine458.4RASSF1, VIM, ZMYND10, IGF2, TP53, RARB
20chloramphenicol45 3 51 1111.3IGF2, RARB, MUC1, VIM, S100B
21ascorbic acid45 249.3S100B, SLC2A1, SHBG, IGF2, TTR
22vitamin d458.2VIM, IGF2, RARB, SHBG, TTR
23tamoxifen45 51 29 1111.2IGF2, SHBG, TP53, VIM, MUC1
24thymidine45 249.1TP53, RARB, MUC1, S100B, GFAP, IGF2
25dopamine45 29 24 1111.0GFAP, S100B, SLC2A1, RARB, SHBG, TTR
26estradiol45 24 1110.0RARB, IGF2, GFAP, SHBG, VIM, MUC1
27genistein45 29 61 3 24 1113.0SLC2A1, VIM, TTR, SHBG, GFAP, RARB
28actinomycin d457.8RARB, MUC1, VIM, TP53, SLC2A1, IGF2
29glutamine457.8S100B, VIM, TTR, GFAP, SLC2A1, IGF2
30cycloheximide457.8SLC2A1, IGF2, VIM, RARB, TP53, GFAP
31arginine457.8GFAP, TP53, S100B, VIM, IGF2, TTR
32creatinine457.7S100B, IGF2, GFAP, TTR, VIM, MUC1
33butyrate457.7IGF2, GFAP, TP53, MUC1, SLC2A1, VIM
34lactate457.5IGF2, GFAP, SHBG, TTR, VIM, S100B
35cisplatin45 51 61 1110.5IGF2, MUC1, SLC2A1, GFAP, RARB, RASSF1
36glycogen45 248.5GFAP, MUC1, S100B, SLC2A1, VIM, IGF2
37progesterone45 29 61 24 1111.4TP53, SHBG, MUC1, VIM, IGF2, RARB
38testosterone45 61 24 1110.4GFAP, S100B, SHBG, TTR, IGF2, MUC1
39alanine457.2IGF2, GFAP, SHBG, TTR, VIM, SLC2A1
40glucose457.2GFAP, SHBG, IGF2, S100B, SLC2A1, MUC1
41vegf457.2IGF2, S100B, MUC1, VIM, TP53, GFAP
42adenylate457.2SLC2A1, GFAP, VIM, S100B, IGF2, SHBG
43forskolin45 51 119.2GFAP, VIM, MUC1, RARB, IGF2, SLC2A1
44paraffin457.0GFAP, IGF2, VIM, MUC1, S100B, TP53
45agar457.0MUC1, RASSF1, SLC2A1, RARB, GFAP, IGF2
46cysteine456.8S100B, RARB, IGF2, MUC1, VIM, TTR
47dexamethasone45 51 29 119.6SLC2A1, IGF2, GFAP, SHBG, TTR, VIM
48retinoic acid45 247.5SHBG, S100B, RASSF1, MUC1, VIM, DAPK1
49serine456.4TTR, IGF2, S100B, SLC2A1, DAPK1, RASSF1
50estrogen455.7TP53, S100B, RARB, RASSF1, MUC1, TTR

GO Terms for genes affiliated with Choroid Plexus Papilloma

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16Gene Ontology
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Cellular components related to Choroid Plexus Papilloma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057376.6S100B, GFAP, TTR, TP53, VIM, MUC1

Biological processes related to Choroid Plexus Papilloma according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:0069789.6MUC1, TP53
2Bergmann glial cell differentiationGO:0600209.6VIM, GFAP
3astrocyte developmentGO:0140029.5VIM, GFAP
4intermediate filament organizationGO:0451099.5GFAP, VIM
5negative regulation of neuron projection developmentGO:0109779.4VIM, GFAP
6cellular response to glucose starvationGO:0421499.3SLC2A1, TP53
7positive regulation of apoptotic processGO:0430659.3S100B, RARB, TP53, DAPK1
8long-term synaptic potentiationGO:0602919.2S100B, GFAP

Molecular functions related to Choroid Plexus Papilloma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1p53 bindingGO:0020399.3MUC1, TP53, SMARCB1
2identical protein bindingGO:0428027.5SLC2A1, DAPK1, TTR, TP53, VIM, RASSF1
3protein bindingGO:0055155.3DAPK1, IGF2, SMARCB1, TTR, TP53, VIM

Products for genes affiliated with Choroid Plexus Papilloma

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Sources for Choroid Plexus Papilloma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet