MCID: CHR029
MIFTS: 68

Choroid Plexus Papilloma malady

Neuronal diseases, Cancer diseases categories

Summaries for Choroid Plexus Papilloma

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: 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 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

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

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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 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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

260500

Clinical synopsis from OMIM:

260500

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Choroid Plexus Papilloma

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Choroid Plexus Papilloma:

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

Animal Models for Choroid Plexus Papilloma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Choroid Plexus Papilloma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.6IGF2, DAPK1, TTR, GFAP, SLC23A1, SMARCB1
2MP:00053817.6IGF2, MUC1, RARB, GFAP, SLC23A1, SMARCB1
3MP:00053917.4TP53, VIM, IGF2, MUC1, TTR, RARB
4MP:00053867.4S100B, IGF2, RARB, GFAP, SLC23A1, SLC2A1

Publications for Choroid Plexus Papilloma

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50PubMed
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Articles related to Choroid Plexus Papilloma:

(show top 50)    (show all 264)
idTitleAuthorsYear
1
Retrosigmoid approach for resection of an extraventricular choroid plexus papilloma in the cerebellopontine angle. (24380509)
2014
2
Choroid plexus papilloma and Pierpont syndrome. (23176139)
2013
3
A Case of Difficult Management of Fluid-Electrolyte Imbalance in Choroid Plexus Papilloma. (24257496)
2013
4
A sacro-caudal spinal cord choroid plexus papilloma in a shar-pei dog. (23731182)
2013
5
Human choroid plexus papilloma cells efficiently transport glucose and vitamin C. (23647458)
2013
6
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
7
Preoperative embolization of choroid plexus papilloma with Onyx via the anterior choroidal artery: technical note. (23014951)
2012
8
Multifocal choroid plexus papilloma: a case report. (22541786)
2012
9
Atypical transformation in sacral drop metastasis from posterior fossa choroid plexus papilloma. (22922909)
2012
10
Medullary cistern choroid plexus papilloma. (20711595)
2010
11
Choroid plexus papilloma presenting with cerebrospinal fluid rhinorrhea and otorrhea: case report. (21030809)
2010
12
Trigeminal neuralgia caused by a choroid plexus papilloma of the cerebellopontine angle: case report and review of the literature. (20233541)
2010
13
Exophytic choroid plexus papilloma of the fourth ventricle presenting with cerebrospinal fluid rhinorrhea: a case report. (18313738)
2009
14
Vestibular syndrome due to a choroid plexus papilloma in a ferret. (19258423)
2009
15
Intracranial fetal hemorrhage due to choroid plexus papilloma. (19200541)
2009
16
Atypical choroid plexus papilloma in an adult. (19707500)
2009
17
First report of the simultaneous occurrence of choroid plexus papilloma and meningioma in a dog. (19635711)
2009
18
Spinal deposits of a benign choroid plexus papilloma. (18406618)
2008
19
Spinal drop metastasis of choroid plexus papilloma. (17240147)
2007
20
Choroid plexus papilloma expansion over 7 years in Aicardi syndrome. (17621535)
2007
21
Choroid plexus papilloma in a Scottish highland cow. (16952368)
2006
22
Purely cystic form of choroid plexus papilloma with acute hydrocephalus in an infant. Case report. (17184082)
2006
23
Temporal lobe epilepsy caused by choroid plexus papilloma in the temporal horn. (15200285)
2004
24
Intrinsic brainstem choroid plexus papilloma. Case report. (15200124)
2004
25
Choroid plexus papilloma in the posterior cranial fossa: MR, CT, and angiographic findings. (11679220)
2001
26
Segmental myoclonus as the sole manifestation of a choroid plexus papilloma in the posterior fossa. Case report. (11780907)
2001
27
Vomiting with depression: choroid plexus papilloma. (11581350)
2001
28
Malignant evolution of choroid plexus papilloma. (10708353)
1999
29
Choroid plexus papilloma of the temporal horn associated with transtentorial herniation. (9740044)
1998
30
Choroid plexus papilloma with chondroid metaplasia. (9363459)
1997
31
Choroid plexus papilloma: detection using color Doppler sonography. (9353486)
1997
32
Hyperdiploid karyotype in a choroid plexus papilloma. (8830721)
1996
33
Bone formation within a choroid plexus papilloma. (8835212)
1995
34
Fatal pulmonary embolism by tumor during resection of a choroid plexus papilloma: case report. (8052392)
1994
35
Choroid plexus papilloma of the cerebellopontine angle. (17170859)
1992
36
Primary choroid plexus papilloma located in the suprasellar region: case report. (1383866)
1992
37
Malignant choroid plexus papilloma of the IV ventricle. (1863929)
1991
38
Histological and immunocytochemical findings in a case of fetal choroid plexus papilloma. (1708643)
1990
39
Neuroradiology case of the day. Choroid plexus papilloma, third ventricle. (2718873)
1989
40
Congenital choroid plexus papilloma of the third ventricle: diagnosis with real-time sonography and MR imaging. (3135726)
1988
41
Ultrasound in the diagnosis of choroid plexus papilloma. (3920266)
1985
42
Choroid plexus papilloma containing bone. (3931408)
1985
43
Choroid plexus papilloma of the cerebellopontine angle presenting as a subarachnoid hemorrhage: case report. (6332280)
1984
44
Paradoxic vestibular syndrome associated with choroid plexus papilloma in a dog. (6822468)
1983
45
Congenital choroid plexus papilloma: light and electron microscopic study of a case. (6643001)
1983
46
Hydrocephalus aggravated after total excision of a choroid plexus papilloma [proceedings]. (290267)
1979
47
The biology of choroid plexus papilloma in infancy and childhood. (316268)
1979
48
Choroid plexus papilloma. I. Proof of cerebrospinal fluid overproduction. (1022421)
1976
49
Choroid-plexus papilloma associated with hydrocephalus in infancy. Report of two cases. (5538101)
1970
50
Choroid plexus papilloma and its relation to hydrocephalus. (13821345)
1960

Genetic Variations for Choroid Plexus Papilloma

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Expression for genes affiliated with Choroid Plexus Papilloma

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1BioGPS, 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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29KEGG, 53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN
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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

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 2BitterDB, 59Tocris Bioscience
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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

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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: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

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