MCID: CHR029
MIFTS: 68

Choroid Plexus Papilloma malady

Neuronal diseases, Cancer diseases categories

Summaries for Choroid Plexus Papilloma

About this section
Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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: Choroid Plexus Papilloma, also known as papilloma of choroid plexus, is related to papilloma and choroid plexus carcinoma, and has symptoms including neoplasms/tumors, intellectual deficit/mental/psychomotor retardation/learning disability and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Choroid Plexus Papilloma is TP53 (tumor protein p53), and among its related pathways are Glioma and Vitamin C (ascorbate) metabolism. The compounds butyrate and estrogen have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone, and related mouse phenotypes are homeostasis/metabolism and digestive/alimentary.

Wikipedia:63 A Choroid plexus papilloma (CPP) is a rare, slow-growing, histologically benign intracranial neoplasm or... more...

Description from OMIM:46 260500

Aliases & Classifications for Choroid Plexus Papilloma

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 60UMLS, 48Orphanet, 22GTR, 44Novoseek, 34MeSH, 56SNOMED-CT, 39NCIt, 57SNOMED-CT via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
choroid plexus carcinoma:
Prevalence: 1-9/1000000


Aliases & Descriptions:

choroid plexus papilloma 8 9 42 46 10 60
papilloma of choroid plexus 42 22 48
childhood choroid plexus papilloma 8 60
choroid plexus carcinoma 48 60
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 44


External Ids:

Disease Ontology8 DOID:2626
MeSH34 D020288
OMIM46 260500
NCIt39 C3698
SNOMED-CT56 18021007, 189911002
SNOMED-CT via Orphanet57 88252006, 18021007
MESH via Orphanet35 D020288
ICD10 via Orphanet26 D33.0
UMLS via Orphanet61 C0205770

Related Diseases for Choroid Plexus Papilloma

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 189)
idRelated DiseaseScoreTop Affiliating Genes
1papilloma32.1TP53, RASSF1
2choroid plexus carcinoma31.7SMARCB1
3meningioma30.6VIM, S100B, IGF2, MUC1, GFAP, SLC2A1
4adrenocortical carcinoma30.6TP53
5atypical teratoid rhabdoid tumor30.4SMARCB1
6giant cell glioblastoma30.3GFAP
7schizophrenia30.3S100B, SLC2A1
8papillary ependymoma30.3S100B, GFAP
9von hippel-lindau disease30.3RASSF1, RARB
10hemangioblastoma30.3S100B, MUC1, GFAP, SLC2A1
11medulloblastoma30.3S100B, IGF2, DAPK1, RASSF1, GFAP, SMARCB1
12osteosarcoma30.2TP53, IGF2
13leukemia30.2DAPK1, TTR, RARB, TP53
14glioblastoma multiforme30.2S100B, RASSF1, RARB, GFAP, SLC2A1, SMARCB1
15astrocytoma30.1VIM, TP53, SLC2A1, GFAP, RARB, RASSF1
16choroiditis11.4
17atypical choroid plexus papilloma10.9
18hydrocephalus10.7
19aicardi syndrome10.5
20choroid plexus meningioma10.5
21cerebellopontine angle tumor10.4
22choroid disease10.4
23meningitis10.3
24cleft lip10.3
25cleft palate10.3
26neurofibromatosis10.2
27temporal lobe epilepsy10.2
28cerebritis10.2
29dermatofibrosarcoma10.2
30arachnoiditis10.2
31dermoid cyst of ovary10.2
32akinetic mutism10.2
33mutism10.2
34trigeminal neuralgia10.2
35benign ependymoma10.2
36brain disease10.2
37chondroma10.2
38choroidal sclerosis10.2
39cystic teratoma10.2
40mature teratoma10.2
41pulmonary embolism10.2
42bone carcinoma10.1
43li-fraumeni syndrome10.1
44acute leukemia10.1
45disseminated intravascular coagulation10.1
46lymphoblastic leukemia10.1
47pediatric osteosarcoma10.1
48rhabdoid tumors, somatic10.1
49hepatitis10.0TTR
50galactosemia10.0TTR

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



Diseases related to choroid plexus papilloma

Clinical Features for Choroid Plexus Papilloma

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

260500

Clinical synopsis from OMIM:

260500

Symptoms:

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

Drugs & Therapeutics for Choroid Plexus Papilloma

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Choroid Plexus Papilloma

Drug clinical trials:

Search ClinicalTrials for Choroid Plexus Papilloma

Search NIH Clinical Center for Choroid Plexus Papilloma

Search CenterWatch for Choroid Plexus Papilloma

Genetic Tests for Choroid Plexus Papilloma

About this section
Sources:
22GTR
See all sources

Genetic tests related to Choroid Plexus Papilloma:

id Genetic test Affiliating Genes
1 Choroid Plexus Papilloma22

Anatomical Context for Choroid Plexus Papilloma

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Choroid Plexus Papilloma:

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

Animal Models for Choroid Plexus Papilloma or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Choroid Plexus Papilloma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.6IGF2, DAPK1, TTR, GFAP, SLC23A1, SMARCB1
2MP:00053817.6TP53, IGF2, SMARCB1, SLC23A1, GFAP, RARB
3MP:00053917.4VIM, TP53, SMARCB1, GFAP, RARB, TTR
4MP:00053867.4S100B, TP53, SLC2A1, SLC23A1, GFAP, RARB

Publications for Choroid Plexus Papilloma

About this section
Sources:
50PubMed
See all sources

Articles related to Choroid Plexus Papilloma:

(show top 50)    (show all 264)
idTitleAuthorsYear
1
Management of disseminated choroid plexus papilloma: A case study. (24038916)
2014
2
Ossified choroid plexus papilloma of the fourth ventricle: elucidation of the mechanism of osteogenesis in benign brain tumors. (23641963)
2013
3
Paratrigonal choroid plexus papilloma presenting with satellite multiple supra- and infratentorial hemorrhages. Neuroanatomical basis and pathological hypothesis. (23333804)
2013
4
Choroid plexus papilloma in an infant: ultrasound diagnosis. (23015045)
2012
5
Tension pneumoventricle after resection of a fourth ventricle choroid plexus papilloma: An unusual postoperative complication. (23226603)
2012
6
Combined staged endoscopic and microsurgical approach of a third ventricular choroid plexus papilloma in an infant. (22278793)
2011
7
Choroid plexus papilloma metastases to both cerebellopontine angles mimicking neurofibromatosis type 2. (20872229)
2011
8
Ependymoma and choroid plexus papilloma as synchronous multiple neuroepithelial tumors in the same patient: a case report and review of literature. (21242834)
2011
9
Prenatal diagnosis and successful postnatal therapy of an atypical choroid plexus papilloma-Case report and review of literature. (20564313)
2010
10
Treatment of third ventricular choroid plexus papilloma in an infant with embolization alone. (21121734)
2010
11
Primary choroid plexus papilloma of the cauda equina. A case report. (20481283)
2010
12
Choroid plexus papilloma of the cerebellopontine angle. (21039014)
2010
13
Multiple dicentric chromosomes behind polyploidy in grade II atypical choroid plexus papilloma: a complementary cytogenetic evaluation. (19077039)
2009
14
Primary choroid plexus papilloma of the sacral nerve roots. (19119933)
2009
15
Choroid plexus papillomas in two siblings: case report. (19621295)
2009
16
Atypical choroid plexus papilloma: clinical experience in the CPT-SIOP-2000 study. (19543851)
2009
17
Ossifying choroid plexus papilloma recurring with features of atypical papilloma. (18366349)
2008
18
Proton magnetic resonance spectroscopy and 201Thallium-, 99mTechnetium methoxyisobutylisonitrile single photon emission computed tomography findings of a patient with choroid plexus papilloma. (18587569)
2008
19
Choroid plexus papilloma with neuropil-like islands. (18162784)
2008
20
Metastasis of a histologically benign choroid plexus papilloma: case report and review of the literature. (17387433)
2007
21
Preoperative embolization in the treatment of choroid plexus papilloma in an infant. Case report. (16776378)
2006
22
Methylation of RASSF1A and TRAIL pathway-related genes is frequent in childhood intracranial ependymomas and benign choroid plexus papilloma. (16616114)
2006
23
Variations of disseminated choroid plexus papilloma: 2 case reports and a review of the literature. (16793445)
2006
24
Psammomatous choroid plexus papilloma: three cases with atypical characteristics. (16720185)
2006
25
Choroid plexus papilloma associated with developmental delay. (15345882)
2004
26
Choroid plexus papilloma of the posterior third ventricle during infancy & childhood: report of two cases with management morbidities. (14652445)
2003
27
Three choroid plexus papillomas in a patient with Aicardi syndrome. A case report. (11124640)
2000
28
Dermatofibrosarcoma protuberans in an infant with a history of choroid plexus papilloma. (10071738)
1999
29
Choroid plexus papilloma: a clinicopathological study of 23 cases. (10390170)
1999
30
Choroid plexus papilloma. (9880959)
1998
31
Primary choroid plexus papilloma of the foramen magnum--case report. (9330533)
1997
32
The standard isoform of CD44 is preferentially expressed in atypical papillomas and carcinomas of the choroid plexus. (9182293)
1996
33
Divergent differentiation in choroid plexus papilloma. An immunohistochemical study of five cases. (7540506)
1995
34
Magnetic resonance imaging characteristics of choroid plexus papilloma in the fourth ventricle. (7477687)
1995
35
Bobble-head doll syndrome and drop attacks in a child with a cystic choroid plexus papilloma of the third ventricle. Case report. (7674025)
1995
36
Choroid plexus papilloma containing melanin pigment. (7671458)
1995
37
Primary cerebellopontine angle choroid plexus papilloma: a case report and review of literature. (8063338)
1994
38
Oncocytic variant of choroid plexus papilloma. Evolution from benign to malignant "oncocytoma". (8431869)
1993
39
Recurrence of choroid plexus papilloma with malignant transformation--case report and lectin histochemistry study. (7680781)
1993
40
Choroid plexus papilloma in infancy. (8077013)
1993
41
Foramen magnum choroid plexus papilloma with drop metastases to the lumbar spine. (2058519)
1991
42
Primary choroid plexus papilloma of the cerebellopontine angle: MR imaging. (2352637)
1990
43
An immunohistochemical study of cytokeratin and glial fibrillary acidic protein in choroid plexus papilloma. (2450443)
1988
44
Choroid plexus papilloma: magnetic resonance, computed tomography, and angiographic observations. (3563861)
1987
45
Oncocytic variant of choroid plexus papilloma. (4013669)
1985
46
Clinical significance of anteroinferior cerebellar artery in angiographic diagnosis of choroid plexus papilloma at the cerebellopontine angle. (6413141)
1983
47
Choroid plexus papilloma of the cerebello-pontine angle. (6603587)
1983
48
Choroid plexus papilloma and infantile spasms. (443763)
1979
49
A primary choroid plexus papilloma of the cerebellopontine angle. (316201)
1979
50
Unusual presentation of a choroid plexus papilloma. (1162590)
1975

Genetic Variations for Choroid Plexus Papilloma

About this section

Expression for genes affiliated with Choroid Plexus Papilloma

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
29KEGG, 53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9TP53, DAPK1
29.9SLC23A1, SLC2A1
39.6SLC2A1, TP53, DAPK1
49.4VIM, GFAP, TP53
58.5DAPK1, RASSF1, RARB, TP53, SLC2A1
6
Hide members
7.9GFAP, RARB, VIM, MUC1, IGF2, TP53

Compounds for genes affiliated with Choroid Plexus Papilloma

About this section
Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 2BitterDB, 59Tocris Bioscience
See all sources

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

(show top 50)    (show all 87)
idCompoundScoreTop Affiliating Genes
1butyrate4410.5GFAP
2estrogen4410.3TTR, GFAP
3crcs449.8DAPK1, TP53, RASSF1, MUC1
4reticulin449.8GFAP, VIM, MUC1
5tamoxifen44 49 28 1112.8IGF2
6megestrol acetate449.7IGF2, SHBG, TTR
72,4-dinitrophenol449.7SLC2A1, TTR, IGF2
8creatinine449.5IGF2, GFAP, TTR, SHBG
9mucicarmine449.5S100B, MUC1, VIM
10eosin449.5GFAP, MUC1, S100B, VIM
11s 100449.5GFAP, VIM, S100B, MUC1
12hematoxylin449.4GFAP, MUC1, S100B, VIM
135-methylcytosine44 2410.3DAPK1, TP53, RARB, RASSF1
14o6-methylguanine449.3RASSF1, DAPK1, TP53, RARB
15forskolin44 49 1111.2RARB, GFAP, VIM
16folate449.2VIM, IGF2, RASSF1, TTR, MUC1
17glucose449.2IGF2, MUC1, GFAP, SLC23A1, SLC2A1
18cytarabine44 49 1111.2GFAP, TP53, MUC1, VIM
19acth449.1GFAP, MUC1, SHBG, IGF2, S100B
20sodium bisulfite449.1RASSF1, IGF2, DAPK1, RARB
21dbc-amp449.1IGF2, VIM, S100B, GFAP
22ascorbic acid44 2410.1S100B, SHBG, IGF2, TTR, SLC23A1, SLC2A1
23progestin449.0VIM, SHBG, IGF2, MUC1
24dopamine44 28 11 2412.0GFAP, RARB, TTR, SHBG
25methionine449.0S100B, DAPK1, TTR, RASSF1, GFAP, VIM
26n-(4-hydroxyphenyl)retinamide448.9RARB, IGF2, VIM, TP53
27chloramphenicol44 2 1110.9RARB, MUC1, IGF2, S100B
28glycogen44 249.7S100B, MUC1, VIM, IGF2, GFAP, SLC2A1
29glutamine448.7VIM, IGF2, GFAP, SLC2A1, S100B, TTR
30retinoid448.6RARB, TTR, TP53, SHBG, VIM
31lactate448.5IGF2, GFAP, SLC2A1, TTR, SHBG, S100B
32azathioprine44 49 2 1111.5IGF2, RARB, RASSF1, VIM
33vegf448.4TP53, IGF2, S100B, GFAP, MUC1, SLC2A1
34dexamethasone44 49 28 1111.4IGF2, S100B, SHBG, SLC2A1, RARB, GFAP
35paraffin448.3VIM, S100B, MUC1, GFAP, SLC2A1, TP53
36actinomycin d448.3TP53, SLC2A1, RARB, MUC1, IGF2, VIM
37thymidine44 249.3MUC1, IGF2, RARB, GFAP, TP53, S100B
38genistein44 28 59 2 11 2413.2GFAP, SLC2A1, RARB, TTR, SHBG, VIM
39alanine448.2IGF2, SLC2A1, TTR, VIM, RASSF1, GFAP
40cisplatin44 49 59 1111.2RASSF1, IGF2, RARB, GFAP, SLC2A1, TP53
41estradiol44 11 2410.2IGF2, MUC1, RARB, GFAP, SHBG, VIM
425-aza-2deoxycytidine447.9RASSF1, TP53, RARB, DAPK1, IGF2, ZMYND10
43arginine447.8S100B, TP53, SHBG, IGF2, TTR, VIM
44progesterone44 59 28 11 2411.8RARB, GFAP, MUC1, TP53, VIM, IGF2
45agar447.8TTR, SLC2A1, IGF2, MUC1, RASSF1, RARB
46testosterone44 59 11 2410.7RARB, S100B, TTR, MUC1, IGF2, SHBG
47serine447.7MUC1, S100B, DAPK1, GFAP, SLC2A1, VIM
48adenylate447.7SLC2A1, GFAP, RARB, IGF2, TTR, SHBG
49cysteine447.6MUC1, VIM, IGF2, S100B, RARB, GFAP
50retinoic acid44 248.0DAPK1, TTR, IGF2, SHBG, S100B, VIM

GO Terms for genes affiliated with Choroid Plexus Papilloma

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057375.9TP53, S100B, ZMYND10, MUC1, DAPK1, TTR

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1L-ascorbic acid metabolic processGO:01985210.0SLC23A1, SLC2A1
2cellular response to glucose starvationGO:0421499.9TP53, SLC2A1
3Bergmann glial cell differentiationGO:0600209.8GFAP, VIM
4DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:0069789.7TP53, MUC1
5astrocyte developmentGO:0140029.6VIM, GFAP
6intermediate filament organizationGO:0451099.5GFAP, VIM
7positive regulation of apoptotic processGO:0430659.0TP53, RARB, DAPK1, S100B

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

idNameGO IDScoreTop Affiliating Genes
1dehydroascorbic acid transporter activityGO:0333009.8SLC23A1, SLC2A1
2p53 bindingGO:0020399.4MUC1, SMARCB1, TP53
3structural constituent of cytoskeletonGO:0052009.0VIM, PLS1, GFAP
4identical protein bindingGO:0428028.5VIM, TP53, SLC2A1, RASSF1, TTR, DAPK1
5protein bindingGO:0055155.9VIM, S100B, ZMYND10, IGF2, MUC1, DAPK1

Products for genes affiliated with Choroid Plexus Papilloma

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Choroid Plexus Papilloma

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet