CPP
MCID: CHR029
MIFTS: 55

Choroid Plexus Papilloma (CPP) malady

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

Aliases & Classifications for Choroid Plexus Papilloma

Aliases & Descriptions for Choroid Plexus Papilloma:

Name: Choroid Plexus Papilloma 54 12 50 56 66 13 14 69
Papilloma of Choroid Plexus 54 50 56 66
Childhood Choroid Plexus Papilloma 12 69
Papilloma of the Choroid Plexus 12 29
Choroid Plexus Carcinoma 56 69
Cpp 56 66
Choroid Plexus Papilloma, No Icd-O Subtype 12
Childhood Papilloma of Choroid Plexus 12
Pediatric Papilloma of Choroid Plexus 12
Choroid Plexus Papilloma Nos 12
Papilloma, Choroid Plexus 42
Papilloma Choroid Plexus 52

Characteristics:

Orphanet epidemiological data:

56
choroid plexus carcinoma
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe); Age of onset: Childhood;
papilloma of choroid plexus
Age of onset: All ages;

HPO:

32
choroid plexus papilloma:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 260500
Disease Ontology 12 DOID:2626
MeSH 42 D020288
NCIt 47 C3698 C5800
SNOMED-CT 64 18021007 189911002
UMLS via Orphanet 70 C0431109 C0205770
ICD10 via Orphanet 34 C71.7 D33.0
MESH via Orphanet 43 D020288

Summaries for Choroid Plexus Papilloma

NIH Rare Diseases : 50 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 li-fraumeni syndrome, and has symptoms including seizures, hydrocephalus and visual impairment. An important gene associated with Choroid Plexus Papilloma is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Signaling mediated by p38-alpha and p38-beta and Thyroid cancer. The drugs Fentanyl and pancreatic polypeptide have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone, and related phenotypes are Increased proliferation and cardiovascular system

OMIM : 54 Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant... (260500) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Choroid plexus papilloma, also known as papilloma of choroid plexus, is a rare benign neuroepithelial... more...

Related Diseases for Choroid Plexus Papilloma

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

(show top 50) (show all 169)
id Related Disease Score Top Affiliating Genes
1 atypical choroid plexus papilloma 12.4
2 li-fraumeni syndrome 11.5
3 choroid plexus cancer 11.4
4 central precocious puberty 11.3
5 rhabdoid tumors, somatic 11.2
6 rhabdoid tumor predisposition syndrome 2 11.1
7 papilloma 11.0
8 choroiditis 11.0
9 hydrocephalus 10.3
10 camptomelic syndrome long limb type 10.3 KRT8 TP53
11 lacrimal gland squamous cell carcinoma 10.3 KRT8 TP53
12 acantholytic squamous cell skin carcinoma 10.3 IGF2 TP53
13 mental retardation, autosomal recessive 49 10.3 KRT8 TP53
14 linitis plastica 10.3 CDH1 TP53
15 ovarian embryonal carcinoma 10.2 KRT8 TP53
16 ependymoma 10.2
17 familial hypopituitarism 10.2 CDH1 TP53
18 perineural angioma 10.2 SYP TP53
19 brain stem angioblastoma 10.2 IGF2 TP53
20 liver fibrosarcoma 10.2 GFAP TP53
21 cervical adenoid cystic carcinoma 10.2 GFAP TP53
22 kidney disease 10.2 SYP TP53
23 bone deterioration disease 10.2 SYP TP53
24 bile duct clear cell adenocarcinoma 10.2 GFAP TP53
25 paraphimosis 10.2 SYP TP53
26 ovarian large-cell neuroendocrine carcinoma 10.2 SMARCB1 SYP
27 exudative glomerulonephritis 10.2 SYP TP53
28 fragile x-associated tremor/ataxia syndrome 10.2 SYP TP53
29 porokeratosis 10.2 GFAP TP53
30 thrombophlebitis 10.2 GFAP SMARCB1
31 adult pineal parenchymal tumor 10.2 KRT8 SYP
32 adult brainstem gliosarcoma 10.2 GFAP TP53
33 trombiculiasis 10.2 GFAP SMARCB1
34 gallbladder pleomorphic giant cell adenocarcinoma 10.2 SYP TP53
35 middle ear disease 10.2 GFAP TP53
36 adult epithelioid sarcoma 10.2 SYP TP53
37 ampullary signet ring cell adenocarcinoma 10.2 CDH1 SYP
38 autonomic nervous system neoplasm 10.2 IGF2 KRT8 TP53
39 intestinal pseudo-obstruction 10.2 GFAP SMARCB1
40 mixed epithelial stromal tumour 10.1 GFAP TP53
41 embryonal testis carcinoma 10.1 CDH1 KRT8
42 childhood embryonal testis carcinoma 10.1 GFAP TP53
43 glomangioma 10.1 SYP TP53
44 childhood-onset cerebral x-linked adrenoleukodystrophy 10.1 CDH1 KRT8 TP53
45 progesterone-receptor positive breast cancer 10.1 CDH1 KRT8 TP53
46 dysembryoplastic neuroepithelial tumor 10.1 CDH1 KRT8 TP53
47 breast malignant phyllodes tumor 10.1 CDH1 KRT8 TP53
48 duodenal obstruction 10.1 KRT8 SYP
49 placenta praevia 10.1 CDH1 KRT8 TP53
50 thymus squamous cell carcinoma 10.1 KRT8 SYP 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

Symptoms by clinical synopsis from OMIM:

260500

Clinical features from OMIM:

260500

Human phenotypes related to Choroid Plexus Papilloma:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 hydrocephalus 56 32 Very frequent (99-80%) HP:0000238
3 visual impairment 56 32 Occasional (29-5%) HP:0000505
4 hypertonia 56 32 Occasional (29-5%) HP:0001276
5 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
6 hemiplegia/hemiparesis 56 32 Occasional (29-5%) HP:0004374
7 choroid plexus papilloma 56 32 Very frequent (99-80%) HP:0200022
8 headache 32 HP:0002315
9 nausea 32 HP:0002018
10 vomiting 32 HP:0002013
11 neoplasm 56 Occasional (29-5%)
12 abnormality of nervous system morphology 56 Very frequent (99-80%)
13 papilledema 32 HP:0001085

UMLS symptoms related to Choroid Plexus Papilloma:


headache, nausea, seizures, vomiting

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased proliferation GR00094-A 8.62 SMARCB1 TP53

MGI Mouse Phenotypes related to Choroid Plexus Papilloma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 CDH1 CFLAR GFAP IGF2 KRT8 SMARCB1
2 digestive/alimentary MP:0005381 9.73 SMARCB1 TP53 CDH1 GFAP IGF2 KRT8
3 embryo MP:0005380 9.63 CDH1 CFLAR IGF2 KRT8 SMARCB1 TP53
4 homeostasis/metabolism MP:0005376 9.56 CDH1 CFLAR GFAP IGF2 KRT8 SMARCB1
5 immune system MP:0005387 9.17 SMARCB1 TP53 CDH1 CFLAR GFAP IGF2

Drugs & Therapeutics for Choroid Plexus Papilloma

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

(show all 26)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
2 pancreatic polypeptide Phase 3
3 Analgesics Phase 3
4 Adjuvants, Anesthesia Phase 3
5 Narcotics Phase 3
6 Analgesics, Opioid Phase 3
7 Anesthetics Phase 3
8 Anesthetics, General Phase 3
9 Anesthetics, Intravenous Phase 3
10 Peripheral Nervous System Agents Phase 3
11 Liver Extracts Phase 3,Phase 1
12 Central Nervous System Depressants Phase 3
13 Cola Nutraceutical Phase 3,Phase 1
14
Bevacizumab Approved, Investigational Phase 2 216974-75-3
15 Angiogenesis Inhibitors Phase 2,Phase 1
16 Angiogenesis Modulating Agents Phase 2,Phase 1
17 Immunoglobulins Phase 2
18 Antibodies, Monoclonal Phase 2
19 Antibodies Phase 2
20
Docetaxel Approved May 1996, Investigational Phase 1 114977-28-5 148124 9877265
21
Entinostat Phase 1
22 Histone Deacetylase Inhibitors Phase 1
23 Anti-Bacterial Agents Phase 1
24 Anti-Infective Agents Phase 1
25 Immunosuppressive Agents Phase 1
26 Antimitotic Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
2 Bevacizumab in Reducing CNS Side Effects in Patients Who Have Undergone Radiation Therapy to the Brain for Primary Brain Tumor, Meningioma, or Head and Neck Cancer Completed NCT00492089 Phase 2
3 Immune Checkpoint Inhibitor Nivolumab in People With Select Rare CNS Cancers Not yet recruiting NCT03173950 Phase 2
4 MS-275 in Treating Patients With Advanced Solid Tumors or Lymphoma Completed NCT00020579 Phase 1
5 Thalidomide and Docetaxel in Treating Patients With Advanced Cancer Completed NCT00049296 Phase 1

Search NIH Clinical Center for Choroid Plexus Papilloma

Cochrane evidence based reviews: papilloma, choroid plexus

Genetic Tests for Choroid Plexus Papilloma

Genetic tests related to Choroid Plexus Papilloma:

id Genetic test Affiliating Genes
1 Choroid Plexus Papilloma 29

Anatomical Context for Choroid Plexus Papilloma

MalaCards organs/tissues related to Choroid Plexus Papilloma:

39
Brain, Spinal Cord, Bone, Pineal, Ovary, T Cells, Pituitary

Publications for Choroid Plexus Papilloma

Articles related to Choroid Plexus Papilloma:

(show top 50) (show all 297)
id Title Authors Year
1
Ultrasonic elastography exploration of the foetal brain: A case of atypical choroid plexus papilloma. ( 28421905 )
2017
2
Choroid plexus papilloma. ( 28413558 )
2017
3
Atypical choroid plexus papilloma: clinicopathological and neuroradiological features. ( 28358248 )
2017
4
Lesson of the month 2: A choroid plexus papilloma manifesting as anorexia nervosa in an adult. ( 28365635 )
2017
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
Uncommon presentation of choroid plexus papilloma in an infant. ( 27195037 )
2016
8
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. ( 27442759 )
2016
9
Migration of a lateral ventricular choroid plexus papilloma: An uncommon occurrence. ( 27381143 )
2016
10
Choroid plexus papilloma in a beluga whale (Delphinapterus leucas). ( 27216722 )
2016
11
Sellar-Suprasellar Extraventricular Choroid Plexus Papilloma : A Case Report and Review of the Literature. ( 26885287 )
2016
12
A mixed choroid plexus papilloma and ependymoma. ( 26670168 )
2016
13
Primary choroid plexus papilloma of cerebellopontine angle: An unusual entity in infancy. ( 27857811 )
2016
14
Choroid plexus papilloma in a dog surviving for 15 months after diagnosis with symptomatic therapy. ( 26321300 )
2015
15
Lateral ventricular cystic choroid plexus papilloma presenting with recurrent drop attacks: A rare manifestation of a rare variant. ( 26238908 )
2015
16
Choroid plexus papilloma arising in a mature cystic teratoma of the ovary: A short case report and literature review. ( 25913225 )
2015
17
Pediatric atypical choroid plexus papilloma reconsidered: increased mitotic activity is prognostic only in older children. ( 25935663 )
2015
18
Embolization of a giant hypervascularized choroid plexus papilloma with onyx by direct puncture: a case report. ( 26438551 )
2015
19
Microsurgical treatment of atypical choroid plexus papilloma in the fourth ventricle. ( 26445956 )
2015
20
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
21
Posterior fossa tumor with distinct choroid plexus papilloma and ependymoma components. ( 25601059 )
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
A case of a choroid plexus papilloma mimicking a hemangioblastoma-letter to the editor. ( 26249660 )
2015
24
DYSPHONIA AS AN UNCOMMON PRESENTATION OF PONTOCEREBELLAR CHOROID PLEXUS PAPILLOMA. ( 26415322 )
2015
25
Case series of choroid plexus papilloma in children at uncommon locations and review of the literature. ( 26500797 )
2015
26
Endoscopic monoportal removal of a choroid plexus papilloma in the posterior third ventricle in a child. ( 25910036 )
2015
27
Purely endoscopic resection of a choroid plexus papilloma of the third ventricle: case report. ( 25860986 )
2015
28
Endoscopic endonasal transplanum transtuberculum resection of a large solid choroid plexus papilloma of the third ventricle. ( 24480582 )
2014
29
Primary cerebellopontine angle choroid plexus papilloma in a child: a rare occurrence. ( 25237954 )
2014
30
Management of disseminated choroid plexus papilloma: A case study. ( 24038916 )
2014
31
Spontaneous indirect CSF rhinorrhea following excision of a giant choroid plexus papilloma of lateral ventricle. ( 25591700 )
2014
32
Choroid plexus papilloma-A case highlighting the challenges of extrapolating pediatric chemotherapy regimens to adult populations. ( 25063761 )
2014
33
Atypical choroid plexus papilloma treated with single agent bevacizumab. ( 24711901 )
2014
34
Retrosigmoid approach for resection of an extraventricular choroid plexus papilloma in the cerebellopontine angle. ( 24380509 )
2014
35
How fast can a choroid plexus papilloma grow? ( 25037763 )
2014
36
Use of tranexamic acid in infants undergoing choroid plexus papilloma surgery: a report of two cases. ( 24924340 )
2014
37
Choroid plexus papilloma of posterior third ventricle: A case report and review of literature. ( 25685228 )
2014
38
Giant choroid plexus papilloma of the lateral ventricle in fetus. ( 25250084 )
2014
39
An unusual location for a choroid plexus papilloma: the pineal region. ( 24442139 )
2014
40
Paratrigonal choroid plexus papilloma presenting with satellite multiple supra- and infratentorial hemorrhages. Neuroanatomical basis and pathological hypothesis. ( 23333804 )
2013
41
Bevacizumab use in disseminated choroid plexus papilloma. ( 23761024 )
2013
42
Densely calcified atypical choroid plexus papilloma at the cerebellopontine angle in an adult. ( 24303341 )
2013
43
Choroid plexus papilloma of the third ventricle: A rare infantile brain tumor. ( 24470825 )
2013
44
Extraventricular choroid plexus papilloma in the brainstem. ( 23889355 )
2013
45
MR Findings of Primary Choroid Plexus Papilloma of the Cerebellopontine Angle: Report of Three Cases and Literature Reviews. ( 23736865 )
2013
46
Choroid plexus papilloma and Pierpont syndrome. ( 23176139 )
2013
47
Atypical choroid plexus papilloma in a newborn: prenatal diagnosis, preoperative tumor embolization, and resection. ( 21830192 )
2013
48
Choroid plexus papilloma arising in a mature cystic teratoma of a 32-year-old female. ( 23255035 )
2013
49
Ossified choroid plexus papilloma of the fourth ventricle: elucidation of the mechanism of osteogenesis in benign brain tumors. ( 23641963 )
2013
50
Human choroid plexus papilloma cells efficiently transport glucose and vitamin C. ( 23647458 )
2013

Variations for Choroid Plexus Papilloma

ClinVar genetic disease variations for Choroid Plexus Papilloma:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TP53 NM_000546.5(TP53): c.475_481dupGCCATGG (p.Ala161Glyfs) duplication Pathogenic rs863223301 GRCh38 Chromosome 17, 7675131: 7675137
2 TP53 NM_000546.5(TP53): c.854A> T (p.Glu285Val) single nucleotide variant Pathogenic rs121912667 GRCh37 Chromosome 17, 7577084: 7577084

Cosmic variations for Choroid Plexus Papilloma:

9
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM10662 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17
2 COSM1104 SMARCB1 central nervous system,choroid plexus,other,choroid plexus carcinoma c.233-1G>C p.? 17

Expression for Choroid Plexus Papilloma

Search GEO for disease gene expression data for Choroid Plexus Papilloma.

Pathways for Choroid Plexus Papilloma

Pathways related to Choroid Plexus Papilloma according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.5 KRT8 TP53
2 10.09 CDH1 TP53

GO Terms for Choroid Plexus Papilloma

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

id Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 8.92 CFLAR KRT8 SMARCB1 TP53

Sources for Choroid Plexus Papilloma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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