MCID: CHR029
MIFTS: 71

Choroid Plexus Papilloma malady

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

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NIH Rare Diseases:42 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 based summary: Choroid Plexus Papilloma, also known as papilloma of choroid plexus, is related to choroid plexus carcinoma and papilloma, and has symptoms including structural anomalies of the nervous system, hydrocephaly and central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer. 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 Choroid plexus papilloma, also known as papilloma of choroid plexus, is a rare benign neuroepithelial... more...

Description from OMIM:46 260500

Aliases & Classifications for Choroid Plexus Papilloma

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 62UMLS, 48Orphanet, 22GTR, 44Novoseek, 39NCIt, 57SNOMED-CT, 34MeSH, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Choroid Plexus Papilloma, Aliases & Descriptions:

Name: Choroid Plexus Papilloma 8 9 42 46 10 62
Papilloma of Choroid Plexus 42 22 48 62
Pediatric Papilloma of Choroid Plexus 8 62
Childhood Choroid Plexus Papilloma 8 62
Papilloma of the Choroid Plexus 8 62
 
Choroid Plexus Carcinoma 48 62
Choroid Plexus Papilloma, No Icd-O Subtype 8
Choroid Plexus Papilloma Nos 8
Papilloma Choroid Plexus 44


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
choroid plexus carcinoma:
Prevalence: 1-9/1000000; Age of onset: Childhood
papilloma of choroid plexus:
Age of onset: Variable


External Ids:

Disease Ontology8 DOID:2626
NCIt39 C3698
MeSH34 D020288
OMIM46 260500
SNOMED-CT57 189911002, 18021007
UMLS via Orphanet63 C0431109, C0205770
MESH via Orphanet35 D020288
ICD10 via Orphanet26 D33.0

Related Diseases for Choroid Plexus Papilloma

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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
1choroid plexus carcinoma32.7SMARCB1
2papilloma32.5RASSF1, TP53
3giant cell glioblastoma31.2GFAP
4papillary ependymoma30.9GFAP, S100B
5dermatofibrosarcoma protuberans30.5VIM, MUC1, S100B
6pilocytic astrocytoma30.5S100B, GFAP
7rhabdoid tumor30.5IGF2, SMARCB1, VIM, MUC1
8ependymoma30.2DAPK1, S100B, RASSF1, MUC1, VIM, TTR
9hemangioblastoma30.2GFAP, MUC1, S100B, SLC2A1
10meningioma29.8MUC1, VIM, GFAP, SMARCB1, IGF2, S100B
11medulloblastoma29.6DAPK1, IGF2, SMARCB1, GFAP, TP53, RASSF1
12glioblastoma29.4SMARCB1, GFAP, TP53, RASSF1, RARB, S100B
13astrocytoma28.9DAPK1, GFAP, TP53, VIM, RASSF1, RARB
14choroiditis11.5
15atypical choroid plexus papilloma10.8
16hydrocephalus10.7
17congenital mesoblastic nephroma10.6SMARCB1
18aicardi syndrome10.6
19lung adenoma10.5ZMYND10
20subependymal giant cell astrocytoma10.5GFAP
21mixed glioma10.5GFAP
22paraganglioma10.5VIM
23eccrine porocarcinoma10.4MUC1
24pineoblastoma10.4GFAP
25gliomatosis cerebri10.4GFAP
26hidradenoma10.4MUC1
27cystadenocarcinoma10.4MUC1
28gliosarcoma10.4GFAP
29adenomatoid tumor10.4VIM
30keratomalacia10.4TTR, RARB
31neurilemmoma10.4GFAP, SMARCB1
32atypical teratoid rhabdoid tumor10.4
33adrenocortical carcinoma10.4
34meningitis10.4
35cleft lip10.3
36cornelia de lange syndrome10.3
37gemistocytic astrocytoma10.3GFAP, S100B
38von hippel-lindau disease10.3RASSF1, RARB
39cervical squamous cell carcinoma10.3DAPK1, RASSF1
40myxopapillary ependymoma10.3GFAP, S100B
41kidney cancer10.3TP53
42clear cell sarcoma10.3S100B, IGF2
43pineocytoma10.3GFAP, S100B
44fibrous meningioma10.3S100B, MUC1
45schizophrenia10.3
46temporal lobe epilepsy10.3
47dermoid cyst of ovary10.3
48neurofibromatosis10.3
49arachnoiditis10.3
50trigeminal neuralgia10.3

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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Symptoms by clinical synopsis from OMIM:

260500

Clinical features from OMIM:

260500

Symptoms:

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

HPO human phenotypes related to Choroid Plexus Papilloma:

(show all 9)
id Description Frequency HPO Source Accession
1 hydrocephalus hallmark (90%) HP:0000238
2 neoplasm of the nervous system hallmark (90%) HP:0004375
3 visual impairment occasional (7.5%) HP:0000505
4 seizures occasional (7.5%) HP:0001250
5 hypertonia occasional (7.5%) HP:0001276
6 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
7 cognitive impairment occasional (7.5%) HP:0100543
8 autosomal recessive inheritance HP:0000007
9 choroid plexus papilloma HP:0200022

Drugs & Therapeutics for Choroid Plexus Papilloma

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Drug clinical trials:

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Genetic Tests for Choroid Plexus Papilloma

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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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MalaCards organs/tissues related to Choroid Plexus Papilloma:

32
Brain, Spinal cord, Bone, Pineal, Ovary, T cells, Temporal lobe, Pituitary

Animal Models for Choroid Plexus Papilloma or affiliated genes

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Publications for Choroid Plexus Papilloma

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Articles related to Choroid Plexus Papilloma:

(show top 50)    (show all 267)
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 of the third ventricle: A rare infantile brain tumor. (24470825)
2013
4
Choroid plexus papilloma and Pierpont syndrome. (23176139)
2013
5
A Case of Difficult Management of Fluid-Electrolyte Imbalance in Choroid Plexus Papilloma. (24257496)
2013
6
Progression of choroid plexus papilloma. (23850048)
2013
7
A sacro-caudal spinal cord choroid plexus papilloma in a shar-pei dog. (23731182)
2013
8
MR Findings of Primary Choroid Plexus Papilloma of the Cerebellopontine Angle: Report of Three Cases and Literature Reviews. (23736865)
2013
9
Bevacizumab use in disseminated choroid plexus papilloma. (23761024)
2013
10
Choroid plexus papilloma presenting as schizophrenia: a case report. (23487217)
2013
11
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
12
A case of choroid plexus papilloma with stromal sclerosis and indistinct papillary structures. (21968641)
2012
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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Clinvar genetic disease variations for Choroid Plexus Papilloma:

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

Expression for genes affiliated with Choroid Plexus Papilloma

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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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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 Glioblastoma37
9.2RARB, DAPK1, TP53, RASSF1
29.2VIM, TP53, GFAP
39.1DAPK1, TP53, SLC2A1
48.4RARB, SLC2A1, RASSF1, TP53, DAPK1
5
Show member pathways
7.7VIM, MUC1, GFAP, IGF2, RARB, TP53

Compounds for genes affiliated with Choroid Plexus Papilloma

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

(show top 50)    (show all 125)
idCompoundScoreTop Affiliating Genes
15-methylcytosine44 2410.6RASSF1, TP53, DAPK1, RARB
2o6-methylguanine449.6RARB, RASSF1, TP53, DAPK1
3megestrol acetate449.5IGF2, TTR, SHBG
4sodium bisulfite449.4IGF2, RASSF1, RARB, DAPK1
5crcs449.3DAPK1, TP53, MUC1, RASSF1
6n-(4-hydroxyphenyl)retinamide449.2VIM, TP53, RARB, IGF2
72,4-dinitrophenol449.0IGF2, TTR, SLC2A1
8retinoid449.0VIM, TP53, TTR, SHBG, RARB
9mucicarmine448.9VIM, MUC1, S100B
10eosin448.8S100B, MUC1, VIM, GFAP
11s 100448.8S100B, GFAP, VIM, MUC1
12reticulin448.8GFAP, VIM, MUC1, S100B
13dbc-amp448.7S100B, VIM, GFAP, IGF2
14hematoxylin448.7MUC1, S100B, GFAP, VIM
15folate448.6TTR, MUC1, RASSF1, VIM, IGF2
16progestin448.6SHBG, IGF2, VIM, MUC1
17methionine448.5TTR, VIM, S100B, DAPK1, GFAP, RASSF1
18acth448.4S100B, MUC1, SHBG, IGF2, GFAP
195-aza-2deoxycytidine448.4RASSF1, VIM, ZMYND10, IGF2, TP53, RARB
20chloramphenicol44 2 50 1111.3IGF2, RARB, MUC1, VIM, S100B
21ascorbic acid44 249.3S100B, SLC2A1, SHBG, IGF2, TTR
22vitamin d448.2VIM, IGF2, RARB, SHBG, TTR
23tamoxifen44 50 28 1111.2IGF2, SHBG, TP53, VIM, MUC1
24thymidine44 249.1TP53, RARB, MUC1, S100B, GFAP, IGF2
25dopamine44 28 24 1111.0GFAP, S100B, SLC2A1, RARB, SHBG, TTR
26estradiol44 24 1110.0RARB, IGF2, GFAP, SHBG, VIM, MUC1
27genistein44 28 61 2 24 1113.0SLC2A1, VIM, TTR, SHBG, GFAP, RARB
28actinomycin d447.8RARB, MUC1, VIM, TP53, SLC2A1, IGF2
29glutamine447.8S100B, VIM, TTR, GFAP, SLC2A1, IGF2
30cycloheximide447.8SLC2A1, IGF2, VIM, RARB, TP53, GFAP
31arginine447.8GFAP, TP53, S100B, VIM, IGF2, TTR
32creatinine447.7S100B, IGF2, GFAP, TTR, VIM, MUC1
33butyrate447.7IGF2, GFAP, TP53, MUC1, SLC2A1, VIM
34lactate447.5IGF2, GFAP, SHBG, TTR, VIM, S100B
35cisplatin44 50 61 1110.5IGF2, MUC1, SLC2A1, GFAP, RARB, RASSF1
36glycogen44 248.5GFAP, MUC1, S100B, SLC2A1, VIM, IGF2
37progesterone44 28 61 24 1111.4TP53, SHBG, MUC1, VIM, IGF2, RARB
38testosterone44 61 24 1110.4GFAP, S100B, SHBG, TTR, IGF2, MUC1
39alanine447.2IGF2, GFAP, SHBG, TTR, VIM, SLC2A1
40glucose447.2GFAP, SHBG, IGF2, S100B, SLC2A1, MUC1
41vegf447.2IGF2, S100B, MUC1, VIM, TP53, GFAP
42adenylate447.2SLC2A1, GFAP, VIM, S100B, IGF2, SHBG
43forskolin44 50 119.2GFAP, VIM, MUC1, RARB, IGF2, SLC2A1
44paraffin447.0GFAP, IGF2, VIM, MUC1, S100B, TP53
45agar447.0MUC1, RASSF1, SLC2A1, RARB, GFAP, IGF2
46cysteine446.8S100B, RARB, IGF2, MUC1, VIM, TTR
47dexamethasone44 50 28 119.6SLC2A1, IGF2, GFAP, SHBG, TTR, VIM
48retinoic acid44 247.5SHBG, S100B, RASSF1, MUC1, VIM, DAPK1
49serine446.4TTR, IGF2, S100B, SLC2A1, DAPK1, RASSF1
50estrogen445.7TP53, S100B, RARB, RASSF1, MUC1, TTR

GO Terms for genes affiliated with Choroid Plexus Papilloma

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet