MCID: CHR029
MIFTS: 55

Choroid Plexus Papilloma malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Choroid Plexus Papilloma

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Choroid Plexus Papilloma:

Name: Choroid Plexus Papilloma 52 11 48 54 70 12 13 68
Papilloma of Choroid Plexus 52 48 54 70
Childhood Choroid Plexus Papilloma 11 68
Papilloma of the Choroid Plexus 11 27
Choroid Plexus Carcinoma 54 68
Cpp 54 70
 
Choroid Plexus Papilloma, No Icd-O Subtype 11
Childhood Papilloma of Choroid Plexus 11
Pediatric Papilloma of Choroid Plexus 11
Choroid Plexus Papilloma Nos 11
Papilloma, Choroid Plexus 39
Papilloma Choroid Plexus 50

Characteristics:

Orphanet epidemiological data:

54
choroid plexus carcinoma:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe); Age of onset: Childhood
choroid plexus papilloma:
Age of onset: All ages

HPO:

64
choroid plexus papilloma:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 260500
Disease Ontology11 DOID:2626
MeSH39 D020288
NCIt45 C3698, C5800
SNOMED-CT62 18021007, 189911002
UMLS via Orphanet69 C0431109, C0205770
ICD10 via Orphanet31 C71.7, D33.0
MESH via Orphanet40 D020288

Summaries for Choroid Plexus Papilloma

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NIH Rare Diseases:48 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 atypical choroid plexus papilloma and medulloblastoma, and has symptoms including hydrocephalus, neoplasm of the nervous system and visual impairment. An important gene associated with Choroid Plexus Papilloma is TP53 (Tumor Protein P53), and among its related pathways are Signaling mediated by p38-alpha and p38-beta and Bladder cancer. Affiliated tissues include brain, spinal cord and bone, and related mouse phenotypes are Increased proliferation and muscle.

UniProtKB/Swiss-Prot:70 Papilloma of choroid plexus: A benign tumor of neuroectodermal origin that generally occurs in childhood, but has also been reported in adults. Although generally found within the ventricular system, choroid plexus papillomas can arise ectopically in the brain parenchyma or disseminate throughout the neuraxis. Patients present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures.

OMIM:52 Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant... (260500) more...

Wikipedia:71 Choroid plexus papilloma, also known as papilloma of choroid plexus, is a rare benign neuroepithelial... more...

Related Diseases for Choroid Plexus Papilloma

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

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1atypical choroid plexus papilloma33.4GFAP, SMARCB1, TP53
2medulloblastoma29.1GFAP, IGF2, SMARCB1, TP53
3li-fraumeni syndrome11.5
4choroid plexus cancer11.4
5rhabdoid tumors, somatic11.2
6central precocious puberty11.1
7rhabdoid tumor predisposition syndrome 211.1
8choroiditis11.1
9papilloma11.1
10exudative glomerulonephritis10.5IGF2, SMARCB1
11childhood central nervous system primitive neuroectodermal neoplasm10.4GFAP, SMARCB1
12pseudoglandular variant testicular seminoma10.4GFAP, SMARCB1
13colonic pseudo-obstruction10.4GFAP, SMARCB1
14clear cell ependymoma10.4GFAP, SMARCB1
15large intestine lipoma10.4GFAP, SMARCB1
16comedo carcinoma10.4CDH1, KRT8
17neurilemmoma of the fifth cranial nerve10.4GFAP, SMARCB1
18perivascular epithelioid cell tumor10.3GFAP, IGF2
19hydrocephalus10.3
20bone marrow cancer10.3GFAP, IGF2
21adult ependymoblastoma10.3IGF2, TP53
22brain sarcoma10.3GFAP, SMARCB1
23prostatic acinar adenocarcinoma10.3GFAP, KRT8
24intestinal benign neoplasm10.3CDH1, GFAP
25mucinous adenocarcinoma10.3IGF2, TP53
26camera marugo cohen syndrome10.2KRT8, TP53
27ependymoma10.2
28ureterocele10.2CDH1, KRT8
29glioma susceptibility 110.2IGF2, TP53
30mental retardation, autosomal recessive 4910.2KRT8, TP53
31central nervous system rhabdomyosarcoma10.2IGF2, TP53
32cribriform carcinoma10.2KRT8, TP53
33oral tuberculosis10.2CDH1, TP53
34colver steer godman syndrome10.2CDH1, TP53
35anal squamous cell carcinoma10.2KRT8, TP53
36nerve fibre bundle defect10.2KRT8, TP53
37vulva basal cell carcinoma10.2CDH1, TP53
38skin meningioma10.2GFAP, TP53
39glomeruloid hemangioma10.2GFAP, TP53
40retroperitoneal germ cell neoplasm10.2KRT8, TP53
41pleomorphic rhabdomyosarcoma10.2IGF2, TP53
42infiltrating lipoma10.1GFAP, TP53
43brain glioma10.1GFAP, TP53
44vulvar benign neoplasm10.1GFAP, TP53
45brainstem intraparenchymal clear cell meningioma10.1GFAP, TP53
46myoepithelial carcinoma10.1KRT8, TP53
47yolk sac tumor of central nervous system10.1GFAP, TP53
48external ear disease10.1GFAP, TP53
49ganglioglioma10.1GFAP, TP53
50uterine corpus epithelioid leiomyosarcoma10.1GFAP, TP53

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



Diseases related to choroid plexus papilloma

Symptoms & Phenotypes for Choroid Plexus Papilloma

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Symptoms by clinical synopsis from OMIM:

260500

Clinical features from OMIM:

260500

Human phenotypes related to Choroid Plexus Papilloma:

 64 54 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus64 54 hallmark (90%) Very frequent (99-80%) HP:0000238
2 neoplasm of the nervous system64 hallmark (90%) HP:0004375
3 visual impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000505
4 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
5 hypertonia64 54 occasional (7.5%) Occasional (29-5%) HP:0001276
6 hemiplegia/hemiparesis64 54 occasional (7.5%) Occasional (29-5%) HP:0004374
7 cognitive impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0100543
8 choroid plexus papilloma64 54 Very frequent (99-80%) HP:0200022
9 neoplasm54 Occasional (29-5%)
10 abnormality of nervous system morphology54 Very frequent (99-80%)

UMLS symptoms related to Choroid Plexus Papilloma:


headache, vomiting

GenomeRNAi Phenotypes related to Choroid Plexus Papilloma according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00094-A10.4SMARCB1, TP53

MGI Mouse Phenotypes related to Choroid Plexus Papilloma according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0CFLAR, GFAP, IGF2, SMARCB1, TP53
2MP:00053918.5GFAP, IGF2, SMARCB1, TP53, TTR
3MP:00053818.2CDH1, GFAP, IGF2, KRT8, SMARCB1, TP53
4MP:00053808.2CDH1, CFLAR, IGF2, KRT8, SMARCB1, TP53
5MP:00053857.7CDH1, CFLAR, GFAP, IGF2, KRT8, SMARCB1
6MP:00053787.7CDH1, CFLAR, GFAP, IGF2, KRT8, SMARCB1
7MP:00053877.6CDH1, CFLAR, GFAP, IGF2, KRT8, SMARCB1
8MP:00053767.3CDH1, CFLAR, GFAP, IGF2, KRT8, SMARCB1

Drugs & Therapeutics for Choroid Plexus Papilloma

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Drugs for Choroid Plexus Papilloma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Fentanylapproved, illicit, investigational, vet_approvedPhase 3773437-38-73345
Synonyms:
1-Phenethyl-4-(N-phenylpropionamido)piperidine
1-Phenethyl-4-N-propionylanilinopiperidine
1-phenethyl-4-N-propionylanilinopiperidine
437-38-7
5-22-08-00049 (Beilstein Handbook Reference)
80832-90-2
990-73-8 (citrate)
AC1L1FQ2
Actiq
BIDD:GT0555
BRN 0494484
CHEBI:119915
CHEMBL596
CID3345
D00320
DB00813
Duragesic
Duragesic (TN)
Duragesic-100
Duragesic-12
Duragesic-25
Duragesic-50
Duragesic-75
Durogesic
EINECS 207-113-6
Fentanest
Fentanil
Fentanil [DCIT]
Fentanila
Fentanila [INN-Spanish]
Fentanilo
Fentanyl
Fentanyl (JAN/USAN/INN)
Fentanyl CII
Fentanyl [INN:BAN]
Fentanyl citrate
Fentanyl-100
Fentanyl-12
Fentanyl-25
 
Fentanyl-50
Fentanyl-75
Fentanylum
Fentanylum [INN-Latin]
HSDB 3329
IONSYS
JNS020QD
L001275
LS-124439
Matrifen
MolPort-003-847-369
N-(1-Phenethyl-4-piperidinyl)-N-phenylpropionamide
N-(1-Phenethyl-4-piperidyl)propionanilide
N-(1-Phenethyl-piperidin-4-yl)-N-phenyl-propionamide
N-(1-Phenethylpiperidin-4-yl)-N-phenylpropionamide
N-(1-phenethyl-4-piperidinyl)-N-phenylpropionamide
N-(1-phenethyl-4-piperidyl)propionanilide
N-(1-phenethylpiperidin-4-yl)-N-phenylpropanamide
N-(1-phenethylpiperidin-4-yl)-N-phenylpropionamide
N-Phenethyl-4-(N-propionylanilino)piperidine
N-Phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)propanamide
N-phenethyl-4-(N-propionylanilino)piperidine
N-phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)propanamide
N-phenyl-N-[1-(2-phenylethyl)piperidin-4-yl]propanamide
NCGC00168252-01
Nasalfent
Oprea1_152073
Oprea1_207148
PDSP1_000860
PDSP2_000846
Pentanyl
Phentanyl
Propanamide, N-phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)- (9CI)
R 4263
Rapinyl
Sentonil
Sublimase
Sublimaze
UNII-UF599785JZ
fentanyl
2Liver ExtractsPhase 3, Phase 13868
3NarcoticsPhase 33486
4pancreatic polypeptidePhase 320
5Adjuvants, AnesthesiaPhase 31588
6Central Nervous System DepressantsPhase 312806
7Peripheral Nervous System AgentsPhase 322776
8AnalgesicsPhase 311287
9Analgesics, OpioidPhase 33091
10AnestheticsPhase 39001
11Anesthetics, GeneralPhase 32787
12Anesthetics, IntravenousPhase 32406
13ColaNutraceuticalPhase 3, Phase 11881
14
Bevacizumabapproved, investigationalPhase 21968216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
15ImmunoglobulinsPhase 26045
16Antibodies, MonoclonalPhase 23795
17AntibodiesPhase 26045
18Angiogenesis InhibitorsPhase 2, Phase 14143
19Angiogenesis Modulating AgentsPhase 2, Phase 14072
20
Docetaxelapproved, investigational, Approved May 1996Phase 11918114977-28-5148124, 9877265
Synonyms:
(2aR,4S,4aS,6R,9S,11S,12S,12aR,12bS)-12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca[3,4]benz[1,2-b]oxet-9-yl (aR,bS)-b-[[(1,1-dimethylethoxy)carbonyl]amino]-a-hydroxybenzenepropanoate
(2alpha,5beta,7beta,10beta,13alpha)-4-(acetyloxy)-13-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7,10-trihydroxy-9-oxo-5,20-epoxytax-11-en-2-yl benzoate
01885_FLUKA
114977-28-5
4-(Acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
4-(acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
AC-383
AC1L3WHJ
ANX-514
BIND-014
C11231
CHEBI:4672
CHEMBL92
CID148124
D07866
DB01248
Docetaxel
Docetaxel (INN)
Docetaxel anhydrous
Docetaxel, Trihydrate
EmDOC
 
HMS2089K08
InChI=1/C43H53NO14/c1-22-26(55-37(51)32(48)30(24-15-11-9-12-16-24)44-38(52)58-39(3,4)5)20-43(53)35(56-36(50)25-17-13-10-14-18-25)33-41(8,34(49)31(47)29(22)40(43,6)7)27(46)19-28-42(33,21-54-28)57-23(2)45/h9-18,26-28,30-33,35,46-48,53H,19-21H2,1-8H3,(H,44,5
MolPort-003-847-005
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-Boc-10-deacetyl taxol
NSC-628503
PSMA-targeted docetaxel nanoparticle
RP-56976
SDP-014
TXL
Taxotere
Taxotere (TN)
Taxotere(R)
XRP-6976L
docetaxel
docetaxel 114977-28-5
nchembio.188-comp8
nchembio.2007.34-comp7
nchembio.573-comp11
nchembio853-comp8
21Immunosuppressive AgentsPhase 112770
22Antimitotic AgentsPhase 15498
23Histone Deacetylase InhibitorsPhase 1566
24
EntinostatPhase 147
Synonyms:
Entinostat
 
MS-275
SNDX-275
25Anti-Bacterial AgentsPhase 110884
26Anti-Infective AgentsPhase 121402

Interventional clinical trials:

idNameStatusNCT IDPhase
1Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer PainCompletedNCT00538850Phase 3
2Bevacizumab in Reducing CNS Side Effects in Patients Who Have Undergone Radiation Therapy to the Brain for Primary Brain Tumor, Meningioma, or Head and Neck CancerCompletedNCT00492089Phase 2
3MS-275 in Treating Patients With Advanced Solid Tumors or LymphomaCompletedNCT00020579Phase 1
4Thalidomide and Docetaxel in Treating Patients With Advanced CancerCompletedNCT00049296Phase 1

Search NIH Clinical Center for Choroid Plexus Papilloma


Cochrane evidence based reviews: papilloma, choroid plexus

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 Papilloma27

Anatomical Context for Choroid Plexus Papilloma

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MalaCards organs/tissues related to Choroid Plexus Papilloma:

36
Brain, Spinal cord, Bone, Liver, Pineal, Ovary, Pituitary

Publications for Choroid Plexus Papilloma

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Articles related to Choroid Plexus Papilloma:

(show top 50)    (show all 294)
idTitleAuthorsYear
1
Choroid plexus papilloma in a beluga whale (Delphinapterus leucas). (27216722)
2016
2
Uncommon presentation of choroid plexus papilloma in an infant. (27195037)
2016
3
Migration of a lateral ventricular choroid plexus papilloma: An uncommon occurrence. (27381143)
2016
4
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. (27442759)
2016
5
Spinal seeding of choroid plexus papilloma. (26804647)
2016
6
Typical Symptoms of Normal-Pressure Hydrocephalus Caused by Choroid Plexus Papilloma in the Cerebellopontine Angle. (27913261)
2016
7
Sellar-Suprasellar Extraventricular Choroid Plexus Papilloma : A Case Report and Review of the Literature. (26885287)
2016
8
Primary choroid plexus papilloma of cerebellopontine angle: An unusual entity in infancy. (27857811)
2016
9
A mixed choroid plexus papilloma and ependymoma. (26670168)
2016
10
Pediatric atypical choroid plexus papilloma reconsidered: increased mitotic activity is prognostic only in older children. (25935663)
2015
11
Microsurgical treatment of atypical choroid plexus papilloma in the fourth ventricle. (26445956)
2015
12
DYSPHONIA AS AN UNCOMMON PRESENTATION OF PONTOCEREBELLAR CHOROID PLEXUS PAPILLOMA. (26415322)
2015
13
A case of a choroid plexus papilloma mimicking a hemangioblastoma-letter to the editor. (26249660)
2015
14
Purely endoscopic resection of a choroid plexus papilloma of the third ventricle: case report. (25860986)
2015
15
Lateral ventricular cystic choroid plexus papilloma presenting with recurrent drop attacks: A rare manifestation of a rare variant. (26238908)
2015
16
Case series of choroid plexus papilloma in children at uncommon locations and review of the literature. (26500797)
2015
17
Choroid plexus papilloma arising in a mature cystic teratoma of the ovary: A short case report and literature review. (25913225)
2015
18
Posterior fossa tumor with distinct choroid plexus papilloma and ependymoma components. (25601059)
2015
19
Endoscopic monoportal removal of a choroid plexus papilloma in the posterior third ventricle in a child. (25910036)
2015
20
Choroid plexus papilloma in a dog surviving for 15 months after diagnosis with symptomatic therapy. (26321300)
2015
21
Embolization of a giant hypervascularized choroid plexus papilloma with onyx by direct puncture: a case report. (26438551)
2015
22
Cross-reactivity of Antibodies Directed to the Gram-Negative Bacterium Neisseria gonorrhoeae With Heat Shock Protein 60 and ATP-Binding Protein Correlates to Reduced Mitochondrial Activity in HIBCPP Choroid Plexus Papilloma Cells. (26080747)
2015
23
Characterization of efflux transport proteins of the human choroid plexus papilloma cell line HIBCPP, a functional in vitro model of the blood-cerebrospinal fluid barrier. (25986174)
2015
24
Management of disseminated choroid plexus papilloma: A case study. (24038916)
2014
25
Use of tranexamic acid in infants undergoing choroid plexus papilloma surgery: a report of two cases. (24924340)
2014
26
Choroid plexus papilloma-A case highlighting the challenges of extrapolating pediatric chemotherapy regimens to adult populations. (25063761)
2014
27
An unusual location for a choroid plexus papilloma: the pineal region. (24442139)
2014
28
How fast can a choroid plexus papilloma grow? (25037763)
2014
29
Choroid plexus papilloma of posterior third ventricle: A case report and review of literature. (25685228)
2014
30
Giant choroid plexus papilloma of the lateral ventricle in fetus. (25250084)
2014
31
Primary cerebellopontine angle choroid plexus papilloma in a child: a rare occurrence. (25237954)
2014
32
Retrosigmoid approach for resection of an extraventricular choroid plexus papilloma in the cerebellopontine angle. (24380509)
2014
33
Spontaneous indirect CSF rhinorrhea following excision of a giant choroid plexus papilloma of lateral ventricle. (25591700)
2014
34
Endoscopic endonasal transplanum transtuberculum resection of a large solid choroid plexus papilloma of the third ventricle. (24480582)
2014
35
Atypical choroid plexus papilloma treated with single agent bevacizumab. (24711901)
2014
36
Densely calcified atypical choroid plexus papilloma at the cerebellopontine angle in an adult. (24303341)
2013
37
Choroid plexus papilloma and Pierpont syndrome. (23176139)
2013
38
Choroid plexus papilloma arising in a mature cystic teratoma of a 32-year-old female. (23255035)
2013
39
Extraventricular choroid plexus papilloma in the brainstem. (23889355)
2013
40
Human choroid plexus papilloma cells efficiently transport glucose and vitamin C. (23647458)
2013
41
Atypical choroid plexus papilloma in a newborn: prenatal diagnosis, preoperative tumor embolization, and resection. (21830192)
2013
42
Choroid plexus papilloma of the third ventricle: A rare infantile brain tumor. (24470825)
2013
43
A Case of Difficult Management of Fluid-Electrolyte Imbalance in Choroid Plexus Papilloma. (24257496)
2013
44
Progression of choroid plexus papilloma. (23850048)
2013
45
A sacro-caudal spinal cord choroid plexus papilloma in a shar-pei dog. (23731182)
2013
46
MR Findings of Primary Choroid Plexus Papilloma of the Cerebellopontine Angle: Report of Three Cases and Literature Reviews. (23736865)
2013
47
Bevacizumab use in disseminated choroid plexus papilloma. (23761024)
2013
48
Choroid plexus papilloma presenting as schizophrenia: a case report. (23487217)
2013
49
Ossified choroid plexus papilloma of the fourth ventricle: elucidation of the mechanism of osteogenesis in benign brain tumors. (23641963)
2013
50
Paratrigonal choroid plexus papilloma presenting with satellite multiple supra- and infratentorial hemorrhages. Neuroanatomical basis and pathological hypothesis. (23333804)
2013

Variations for Choroid Plexus Papilloma

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Clinvar genetic disease variations for Choroid Plexus Papilloma:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TP53NM_000546.5(TP53): c.475_481dupGCCATGG (p.Ala161Glyfs)duplicationPathogenicrs863223301GRCh38Chr 17, 7675131: 7675137
2TP53NM_000546.5(TP53): c.854A> T (p.Glu285Val)SNVPathogenicrs121912667GRCh37Chr 17, 7577084: 7577084

Cosmic variations for Choroid Plexus Papilloma:

8
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1COSM1104SMARCB1central nervous system,choroid plexus,other,choroid plexus carcinomac.233-1G>Cp.?17
2COSM10662TP53central nervous system,choroid plexus,other,choroid plexus carcinomac.743G>Ap.R248Q17

Expression for genes affiliated with Choroid Plexus Papilloma

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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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5KRT8, TP53
29.3CDH1, TP53
39.3CDH1, TP53

GO Terms for genes affiliated with Choroid Plexus Papilloma

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Biological processes related to Choroid Plexus Papilloma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:00301988.8CDH1, GFAP, TTR

Sources for Choroid Plexus Papilloma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet