MCID: CHR029
MIFTS: 61

Choroid Plexus Papilloma malady

Neuronal, Cancer categories

Summaries for Choroid Plexus Papilloma

Sources:
43NIH Rare Diseases, 64Wikipedia, 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 choroid plexus carcinoma and ependymoma, 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 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 ovary, and related mouse phenotypes are homeostasis/metabolism and digestive/alimentary.

Wikipedia:64 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

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 61UMLS, 49Orphanet, 22GTR, 45Novoseek, 35MeSH, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
choroid plexus carcinoma:
Prevalence: 1-9/1000000


Aliases & Descriptions:

choroid plexus papilloma 8 9 43 47 10 61
papilloma of choroid plexus 43 22 49
childhood choroid plexus papilloma 8 61
choroid plexus carcinoma 49 61
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
MeSH35 D020288
OMIM47 260500
NCIt40 C3698
SNOMED-CT57 18021007, 189911002
MESH via Orphanet36 D020288
ICD10 via Orphanet26 D33.0
SNOMED-CT via Orphanet58 18021007
UMLS via Orphanet62 C0205770

Related Diseases for Choroid Plexus Papilloma

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 183)
idRelated DiseaseScoreTop Affiliating Genes
1choroid plexus carcinoma31.8SMARCB1
2ependymoma30.8VIM, S100B, MUC1, DAPK1, GFAP, RASSF1
3adrenocortical carcinoma30.6TP53
4atypical teratoid rhabdoid tumor30.5SMARCB1
5rhabdoid tumor30.5VIM, IGF2, MUC1, SMARCB1
6giant cell glioblastoma30.3GFAP
7teratoma30.3SMARCB1, GFAP
8papillary ependymoma30.3S100B, GFAP
9dermatofibrosarcoma protuberans30.3VIM, S100B, MUC1
10pilocytic astrocytoma30.2S100B, GFAP
11astrocytoma30.2VIM, TP53, SLC2A1, GFAP, RARB, RASSF1
12atypical choroid plexus papilloma10.9
13choroid plexus cyst10.8
14aicardi syndrome10.6
15choroid plexus meningioma10.5
16giant congenital nevus10.4
17polyploidy10.4
18cleft palate10.3
19neurofibromatosis10.3
20temporal lobe epilepsy10.3
21dermatofibrosarcoma10.3
22akinetic mutism10.3
23mutism10.3
24trigeminal neuralgia10.3
25benign ependymoma10.3
26brain disease10.3
27bobble-head doll syndrome10.3
28germinoma10.3
29pineal cyst10.3
30cavernous malformation10.3
31dysphagia10.3
32head injury10.3
33myoclonus10.3
34posterior fossa tumors10.3
35bone carcinoma10.2
36acute leukemia10.2
37rhabdoid tumors, somatic10.2
38choroid cancer10.2
39hepatitis10.0TTR
40galactosemia10.0TTR
41liver cirrhosis10.0TTR
42congenital mesoblastic nephroma10.0SMARCB1
43collecting duct carcinoma10.0SMARCB1
44deficiency anemia10.0TTR
45ganglioneuroblastoma10.0S100B
46glaucoma10.0TTR
47benign meningioma10.0SLC2A1
48hemangioma10.0SLC2A1
49subependymal giant cell astrocytoma10.0GFAP
50gliosarcoma10.0GFAP

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



Diseases related to choroid plexus papilloma

Clinical Features for Choroid Plexus Papilloma

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

260500

Clinical synopsis from OMIM:

260500

Symptoms:

49 (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

Drugs & Therapeutics for Choroid Plexus Papilloma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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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

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Choroid Plexus Papilloma:

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

Animal Models for Choroid Plexus Papilloma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Choroid Plexus Papilloma

Sources:
51PubMed
See all sources

Articles related to Choroid Plexus Papilloma:

(show top 50)    (show all 264)
idTitleAuthorsYear
1
Progression of choroid plexus papilloma. (23850048)
2013
2
MR Findings of Primary Choroid Plexus Papilloma of the Cerebellopontine Angle: Report of Three Cases and Literature Reviews. (23736865)
2013
3
Choroid plexus papilloma presenting as schizophrenia: a case report. (23487217)
2013
4
Ossified choroid plexus papilloma of the fourth ventricle: elucidation of the mechanism of osteogenesis in benign brain tumors. (23641963)
2013
5
Paratrigonal choroid plexus papilloma presenting with satellite multiple supra- and infratentorial hemorrhages. Neuroanatomical basis and pathological hypothesis. (23333804)
2013
6
A case of choroid plexus papilloma with stromal sclerosis and indistinct papillary structures. (21968641)
2012
7
Choroid plexus papilloma in a girl with hypomelanosis of Ito. (22793165)
2012
8
Fourth ventricular choroid plexus papilloma. (21630054)
2012
9
Giant congenital melanocytic nevus with choroid plexus papilloma: case report and review of literature. (21344363)
2012
10
Telovelar approach for choroid plexus papilloma in the foramen of Luschka: a safe way using a neuromonitor. (22209142)
2012
11
Endoscopic removal of a cystic choroid plexus papilloma of the third ventricle: a case report and review of the literature. (21414714)
2011
12
Catastrophic electrolyte imbalance caused by excessive production and overdrainage of cerebrospinal fluid in an infant with choroid plexus papilloma. (21503754)
2011
13
Choroid plexus papilloma metastases to both cerebellopontine angles mimicking neurofibromatosis type 2. (20872229)
2011
14
Recurrence of fourth ventricular choroid plexus papilloma with late occurrence of a spinal drop metastasis. (20632883)
2010
15
Choroid plexus papilloma of the cerebellopontine angle. (21039014)
2010
16
Choroid plexus papilloma in a Nigerian child: a case report. (20852665)
2010
17
Polyploidy in atypical grade II choroid plexus papilloma of the posterior fossa. (18627486)
2009
18
Choroid plexus papillomas in two siblings: case report. (19621295)
2009
19
A large choroid plexus papilloma removed by the cerebellomedullary fissure approach. Case report and review of the literature. (18814123)
2008
20
Total ossification of choroid plexus papilloma mimicking calcified petrous bone pathology. (17190994)
2007
21
Prognostic implications of atypical histologic features in choroid plexus papilloma. (17086103)
2006
22
Psammomatous choroid plexus papilloma: three cases with atypical characteristics. (16720185)
2006
23
Choroid plexus papilloma of the third ventricle in the fetus. Case illustration. (14758957)
2004
24
Choroid plexus papilloma of bilateral lateral ventricle. (12601462)
2003
25
Giant choroid plexus papilloma of the third ventricle. (14738269)
2003
26
Choroid plexus papilloma and Aicardi syndrome: case report. (12563397)
2002
27
Choroid plexus papilloma of the third ventricle: angiography, preoperative embolization, and histology. (11465767)
2001
28
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
29
Choroid plexus papilloma of foramen of Luschka with multiple recurrences and cystic features. (10525766)
1999
30
Akinetic mutism after fourth ventricle choroid plexus papilloma: treatment with a dopamine agonist. (10029425)
1999
31
Choroid plexus papilloma. (9880959)
1998
32
Choroid plexus papilloma and cysts in the Aicardi syndrome: case reports. (9520082)
1997
33
Third ventricular choroid plexus papilloma with psychosis. Case report. (9202274)
1997
34
Primary choroid plexus papilloma of the foramen magnum--case report. (9330533)
1997
35
The standard isoform of CD44 is preferentially expressed in atypical papillomas and carcinomas of the choroid plexus. (9182293)
1996
36
Magnetic resonance imaging characteristics of choroid plexus papilloma in the fourth ventricle. (7477687)
1995
37
Primary cerebellopontine angle choroid plexus papilloma: a case report and review of literature. (8063338)
1994
38
Epithelial differentiation in gliomas, meningiomas and choroid plexus papillomas. (1352072)
1992
39
Pigmented choroid plexus papilloma. (2198007)
1990
40
Choroid plexus papilloma in early infants. (2642234)
1989
41
An immunohistochemical study of cytokeratin and glial fibrillary acidic protein in choroid plexus papilloma. (2450443)
1988
42
Focal glial differentiation and oncocytic transformation in choroid plexus papilloma. (3564908)
1987
43
Choroid plexus papilloma: magnetic resonance, computed tomography, and angiographic observations. (3563861)
1987
44
Aicardi syndrome, papilloma of the choroid plexus, cleft lip, and cleft of the posterior palate. (6707796)
1984
45
Clinical significance of anteroinferior cerebellar artery in angiographic diagnosis of choroid plexus papilloma at the cerebellopontine angle. (6413141)
1983
46
Choroid plexus papilloma and infantile spasms. (443763)
1979
47
Choroid plexus papilloma five years after shunting for hydrocephalus. (1023016)
1976
48
Unusual presentation of a choroid plexus papilloma. (1162590)
1975
49
Suppression of 99mTc-pertechnetate uptake in a choroid plexus papilloma. (4355070)
1973
50
The diagnosis of the choroid plexus papilloma of the lateral ventricle. (14462828)
1961

Genetic Variations for Choroid Plexus Papilloma

Expression for genes affiliated with Choroid Plexus Papilloma

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

Sources:
30KEGG, 54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN
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
39.6DAPK1, SLC2A1, TP53
49.4TP53, GFAP, VIM
58.5TP53, SLC2A1, RARB, RASSF1, DAPK1
6
Hide members
7.9VIM, IGF2, MUC1, RARB, GFAP, TP53

Compounds for genes affiliated with Choroid Plexus Papilloma

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 2BitterDB, 60Tocris Bioscience
See all sources

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

(show top 50)    (show all 87)
idCompoundScoreTop Affiliating Genes
1butyrate4510.5GFAP
2estrogen4510.3GFAP, TTR
3crcs459.8MUC1, DAPK1, RASSF1, TP53
4reticulin459.8GFAP, MUC1, VIM
5tamoxifen45 50 29 1112.8IGF2
6megestrol acetate459.8SHBG, IGF2, TTR
72,4-dinitrophenol459.7IGF2, TTR, SLC2A1
8creatinine459.5SHBG, IGF2, TTR, GFAP
9mucicarmine459.5MUC1, S100B, VIM
10eosin459.5VIM, S100B, MUC1, GFAP
11s 100459.5VIM, S100B, MUC1, GFAP
12hematoxylin459.4VIM, S100B, MUC1, GFAP
135-methylcytosine45 2410.3DAPK1, RASSF1, RARB, TP53
14o6-methylguanine459.3DAPK1, RASSF1, RARB, TP53
15forskolin45 50 1111.2GFAP, RARB, VIM
16folate459.2VIM, IGF2, MUC1, TTR, RASSF1
17glucose459.2IGF2, MUC1, GFAP, SLC23A1, SLC2A1
18cytarabine45 50 1111.2TP53, GFAP, MUC1, VIM
19acth459.1S100B, SHBG, IGF2, MUC1, GFAP
20sodium bisulfite459.1IGF2, DAPK1, RASSF1, RARB
21dbc-amp459.1GFAP, IGF2, S100B, VIM
22ascorbic acid45 2410.1S100B, SHBG, IGF2, TTR, SLC23A1, SLC2A1
23progestin459.0VIM, SHBG, IGF2, MUC1
24dopamine45 29 11 2412.0SHBG, TTR, RARB, GFAP
25methionine459.0VIM, S100B, DAPK1, TTR, RASSF1, GFAP
26n-(4-hydroxyphenyl)retinamide458.9VIM, IGF2, RARB, TP53
27chloramphenicol45 2 1110.9S100B, IGF2, MUC1, RARB
28glycogen45 249.7VIM, S100B, IGF2, MUC1, GFAP, SLC2A1
29glutamine458.7VIM, S100B, IGF2, TTR, GFAP, SLC2A1
30retinoid458.6VIM, SHBG, TTR, RARB, TP53
31lactate458.5VIM, S100B, SHBG, IGF2, TTR, GFAP
32azathioprine45 50 2 1111.5VIM, IGF2, RASSF1, RARB
33vegf458.4VIM, S100B, IGF2, MUC1, GFAP, SLC2A1
34dexamethasone45 50 29 1111.4S100B, SHBG, IGF2, RARB, GFAP, SLC2A1
35paraffin458.3VIM, S100B, IGF2, MUC1, TTR, GFAP
36actinomycin d458.3VIM, IGF2, MUC1, RARB, SLC2A1, TP53
37thymidine45 249.3S100B, IGF2, MUC1, RARB, GFAP, TP53
38genistein45 29 60 2 11 2413.2VIM, SHBG, TTR, RARB, GFAP, SLC2A1
39alanine458.2VIM, S100B, SHBG, IGF2, TTR, RASSF1
40cisplatin45 50 60 1111.2IGF2, MUC1, RASSF1, RARB, GFAP, SLC2A1
41estradiol45 11 2410.2VIM, SHBG, IGF2, MUC1, RARB, GFAP
425-aza-2deoxycytidine457.9VIM, ZMYND10, IGF2, DAPK1, RASSF1, RARB
43arginine457.8VIM, S100B, SHBG, IGF2, TTR, RARB
44progesterone45 60 29 11 2411.8VIM, S100B, SHBG, IGF2, MUC1, RARB
45agar457.8VIM, IGF2, MUC1, TTR, RASSF1, RARB
46testosterone45 60 11 2410.7VIM, S100B, SHBG, IGF2, MUC1, TTR
47serine457.7VIM, S100B, IGF2, MUC1, DAPK1, TTR
48adenylate457.7VIM, S100B, SHBG, IGF2, TTR, RARB
49cysteine457.6VIM, S100B, IGF2, MUC1, TTR, RARB
50retinoic acid45 248.0VIM, S100B, SHBG, IGF2, MUC1, DAPK1

GO Terms for genes affiliated with Choroid Plexus Papilloma

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:0020399.4TP53, SMARCB1, MUC1
3structural constituent of cytoskeletonGO:0052009.0GFAP, PLS1, VIM
4identical protein bindingGO:0428028.5TP53, VIM, S100B, DAPK1, TTR, RASSF1
5protein bindingGO:0055155.9VIM, S100B, ZMYND10, IGF2, MUC1, DAPK1

Products for genes affiliated with Choroid Plexus Papilloma

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Choroid Plexus Papilloma

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet