MCID: CHR029
MIFTS: 52

Choroid Plexus Papilloma malady

Genetic diseases, Rare diseases, Neuronal diseases, Cancer diseases categories

Aliases & Classifications for Choroid Plexus Papilloma

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 12DISEASES, 65UMLS, 67UniProtKB/Swiss-Prot, 51Orphanet, 47Novoseek, 24GTR, 36MeSH, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Choroid Plexus Papilloma:

Name: Choroid Plexus Papilloma 49 10 11 45 12 65 67
Papilloma of Choroid Plexus 45 51 67
Childhood Choroid Plexus Papilloma 10 65
Papilloma Choroid Plexus 47 24
Choroid Plexus Papilloma, No Icd-O Subtype 10
 
Pediatric Papilloma of Choroid Plexus 10
Papilloma of the Choroid Plexus 10
Choroid Plexus Papilloma Nos 10
Papilloma, Choroid Plexus 36
Cpp 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
papilloma of choroid plexus:
Age of onset: All ages


External Ids:

OMIM49 260500
Disease Ontology10 DOID:2626
MeSH36 D020288
NCIt42 C3698
Orphanet51 2807
SNOMED-CT59 189911002, 18021007
ICD10 via Orphanet28 D33.0
MESH via Orphanet37 D020288
UMLS via Orphanet66 C0205770

Summaries for Choroid Plexus Papilloma

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NIH Rare Diseases:45 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 taylor's syndrome and secondary syphilis, 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 Bladder cancer and Thyroid cancer. Affiliated tissues include brain, spinal cord and bone, and related mouse phenotypes are vision/eye and digestive/alimentary.

OMIM:49 Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant... (260500) more...

UniProtKB/Swiss-Prot:67 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.

Wikipedia:68 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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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:

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Fentanylapproved, illicit, investigationalPhase 3649437-38-73345
Synonyms:
1-Phenethyl-4-(N-phenylpropionamido)piperidine
1-Phenethyl-4-N-propionylanilinopiperidine
437-38-7
5-22-08-00049 (Beilstein Handbook Reference)
80832-90-2
990-73-8 (citrate)
AC1L1FQ2
Abstral
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 - Novaplus
Fentanyl Citrate
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
Lazanda
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-phenethylpiperidin-4-yl)-N-phenylpropanamide
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
Subsys
UNII-UF599785JZ
fentanyl
2pancreatic polypeptidePhase 320
3ColaNutraceuticalPhase 3, Phase 11690
4
Bevacizumabapproved, investigationalPhase 21820216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
5
Docetaxelapproved, investigational, Approved May 1996Phase 11792114977-28-5148124, 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
Docefrez
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
6
EntinostatPhase 133
Synonyms:
Entinostat
 
MS-275
SNDX-275

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 Papilloma24

Anatomical Context for Choroid Plexus Papilloma

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MalaCards organs/tissues related to Choroid Plexus Papilloma:

33
Brain, Spinal cord, Bone, Pineal, Ovary, Pituitary, T cells

Animal Models for Choroid Plexus Papilloma or affiliated genes

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MGI Mouse Phenotypes related to Choroid Plexus Papilloma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.5GFAP, IGF2, SMARCB1, TP53, TTR
2MP:00053817.7CDH1, GFAP, IGF2, KRT8, SMARCB1, TP53
3MP:00053807.5CDH1, CFLAR, IGF2, KRT8, SMARCB1, TP53
4MP:00053857.1CDH1, CFLAR, GFAP, IGF2, KRT8, SMARCB1
5MP:00053767.0CDH1, CFLAR, GFAP, IGF2, SMARCB1, TP53
6MP:00107687.0CDH1, CFLAR, GFAP, IGF2, KRT8, SMARCB1
7MP:00053786.9CDH1, CFLAR, GFAP, IGF2, KRT8, SMARCB1
8MP:00053876.9CDH1, CFLAR, GFAP, IGF2, KRT8, SMARCB1

Publications for Choroid Plexus Papilloma

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Articles related to Choroid Plexus Papilloma:

(show top 50)    (show all 282)
idTitleAuthorsYear
1
Pediatric atypical choroid plexus papilloma reconsidered: increased mitotic activity is prognostic only in older children. (25935663)
2015
2
Management of disseminated choroid plexus papilloma: A case study. (24038916)
2014
3
Densely calcified atypical choroid plexus papilloma at the cerebellopontine angle in an adult. (24303341)
2013
4
Choroid plexus papilloma of the third ventricle: A rare infantile brain tumor. (24470825)
2013
5
Choroid plexus papilloma and Pierpont syndrome. (23176139)
2013
6
A Case of Difficult Management of Fluid-Electrolyte Imbalance in Choroid Plexus Papilloma. (24257496)
2013
7
Progression of choroid plexus papilloma. (23850048)
2013
8
A sacro-caudal spinal cord choroid plexus papilloma in a shar-pei dog. (23731182)
2013
9
MR Findings of Primary Choroid Plexus Papilloma of the Cerebellopontine Angle: Report of Three Cases and Literature Reviews. (23736865)
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
Endoscopic removal of a cystic choroid plexus papilloma of the third ventricle: a case report and review of the literature. (21414714)
2011
14
Combined staged endoscopic and microsurgical approach of a third ventricular choroid plexus papilloma in an infant. (22278793)
2011
15
Prenatal diagnosis and successful postnatal therapy of an atypical choroid plexus papilloma-Case report and review of literature. (20564313)
2010
16
Polyploidy in atypical grade II choroid plexus papilloma of the posterior fossa. (18627486)
2009
17
Multiple dicentric chromosomes behind polyploidy in grade II atypical choroid plexus papilloma: a complementary cytogenetic evaluation. (19077039)
2009
18
Primary choroid plexus papilloma of the sacral nerve roots. (19119933)
2009
19
Grade II atypical choroid plexus papilloma with normal karyotype. (19554332)
2009
20
Infant with unusually large choroid plexus papilloma undergoing emergency surgery. Case report with special emphasis on the surgical strategy. (16465083)
2006
21
Choroid plexus papilloma developing in a dermoid cyst of ovary. (16879402)
2006
22
Delayed occurrence of multiple spinal drop metastases from a posterior fossa choroid plexus papilloma. Case report. (16776361)
2006
23
Choroid plexus papilloma in a Scottish highland cow. (16952368)
2006
24
Choroid plexus papilloma associated with developmental delay. (15345882)
2004
25
Temporal lobe epilepsy caused by choroid plexus papilloma in the temporal horn. (15200285)
2004
26
Pineal region lesion masquerading choroid plexus papilloma: case report. (12648913)
2003
27
Choroid plexus papilloma of the fourth ventricle. (12593575)
2002
28
Choroid plexus papilloma in the posterior cranial fossa: MR, CT, and angiographic findings. (11679220)
2001
29
Segmental myoclonus as the sole manifestation of a choroid plexus papilloma in the posterior fossa. Case report. (11780907)
2001
30
Choroid plexus papilloma of cerebellopontine angle with extension to foramen magnum. (10339715)
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TP53NM_000546.5(TP53): c.475_481dupGCCATGG (p.Ala161Glyfs)duplicationPathogenicGRCh38Chr 17, 7675131: 7675137

Cosmic variations for Choroid Plexus Papilloma:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
128750IDH1central nervous system,brain,other,neoplasm3
228749IDH1central nervous system,brain,other,neoplasm3
328746IDH1central nervous system,brain,other,neoplasm3
428747IDH1central nervous system,brain,other,neoplasm3
528748IDH1central nervous system,brain,other,neoplasm3

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 pathways (with members indented)ScoreTop Affiliating Genes
19.5CDH1, TP53
29.5CDH1, TP53
39.3KRT8, TP53
4
Apoptosis (WikiPathways)
Show member pathways
9.3KRT8, 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
1necroptotic processGO:00702669.8CFLAR, TP53
2programmed cell deathGO:00125019.0CDH1, CFLAR, TP53

Sources for Choroid Plexus Papilloma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet