MCID: CHR029
MIFTS: 56

Choroid Plexus Papilloma

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

Aliases & Classifications for Choroid Plexus Papilloma

MalaCards integrated aliases for Choroid Plexus Papilloma:

Name: Choroid Plexus Papilloma 54 12 50 56 71 29 13 14 69
Papilloma of Choroid Plexus 50 56 71
Childhood Choroid Plexus Papilloma 12 69
Choroid Plexus Carcinoma 56 69
Cpp 56 71
Choroid Plexus Papilloma, No Icd-O Subtype 12
Childhood Papilloma of Choroid Plexus 12
Pediatric Papilloma of Choroid Plexus 12
Papilloma of the 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;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


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 visual impairment, cognitive impairment and seizures. An important gene associated with Choroid Plexus Papilloma is TP53 (Tumor Protein P53), and among its related pathways/superpathways are Photodynamic therapy-induced AP-1 survival signaling. and Signaling mediated by p38-alpha and p38-beta. The drugs Fentanyl and Pancreatic Polypeptide have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and liver, and related phenotypes are Increased proliferation and cardiovascular system

UniProtKB/Swiss-Prot : 71 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 : 54
Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013). (260500)

Wikipedia : 72 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 146)
id Related Disease Score Top Affiliating Genes
1 atypical choroid plexus papilloma 32.1 GFAP SMARCB1 TP53 TTR
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 11.1
8 choroiditis 11.1
9 nodular medulloblastoma 10.5 GFAP SMARCB1
10 basosquamous carcinoma 10.5 GFAP SMARCB1
11 functional colonic disease 10.5 GFAP SMARCB1
12 conventional malignant hemangiopericytoma 10.5 KRT8 SMARCB1
13 brain stem ependymoma 10.5 GFAP SMARCB1
14 cerebrum cancer 10.5 IGF2 SMARCB1
15 macrocystic neurilemmoma 10.5 GFAP SMARCB1
16 cribriform carcinoma 10.4 CDH1 KRT8
17 zellweger syndrome 10.4 CDH1 KRT8
18 central nervous system sarcoma 10.4 GFAP SMARCB1
19 cowper gland carcinoma 10.4 IGF2 TP53
20 pericardial tuberculosis 10.4 GFAP IGF2
21 ascaridiasis 10.4 SMARCB1 TP53
22 breast epithelioid hemangioma 10.4 IGF2 TP53
23 ulnar neuropathy 10.3 CDH1 GFAP
24 bone development disease 10.3 IGF2 TP53
25 camptocormism 10.3 KRT8 TP53
26 hydrocephalus 10.3
27 colon signet ring adenocarcinoma 10.3 IGF2 TP53
28 trichoepithelioma, multiple familial, 1 10.3 KRT8 TP53
29 extragonadal nonseminomatous germ cell tumor 10.3 KRT8 TP53
30 middle ear squamous cell carcinoma 10.3 KRT8 TP53
31 ependymoma 10.2
32 mediastinum rhabdomyosarcoma 10.2 IGF2 TP53
33 pancoast tumor 10.2 GFAP TP53
34 brain stem astrocytic neoplasm 10.2 GFAP TP53
35 tendon sheath lipoma 10.2 GFAP TP53
36 familial episodic pain syndrome 10.2 CDH1 TP53
37 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 10.2 GFAP TP53
38 pancreatic signet ring cell adenocarcinoma 10.2 CDH1 TP53
39 brain glioma 10.2 GFAP TP53
40 iodine hypothyroidism 10.2 GFAP TP53
41 third cranial nerve disease 10.2 GFAP TP53
42 vulva adenocarcinoma 10.2 KRT8 TP53
43 pleural empyema 10.2 GFAP TP53
44 lacrimal gland mucoepidermoid carcinoma 10.2 CDH1 TP53
45 aggressive systemic mastocytosis 10.2 GFAP TP53
46 peritoneal serous adenocarcinoma 10.2 CDH1 TP53
47 subependymal giant cell astrocytoma 10.2 GFAP TP53
48 temporal lobe neoplasm 10.2 GFAP IGF2 SMARCB1
49 gastrointestinal neuroendocrine tumor 10.2 CDH1 TP53
50 retinal disease 10.2 KRT8 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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
headache
seizures
hydrocephalus
gait impairment
intraventricular choroid plexus papilloma
more
Head And Neck- Eyes:
papilledema

Abdomen- Gastroin testinal:
vomiting
nausea

Neoplasia:
malignant transformation of choroid plexus papilloma


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 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
2 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 hypertonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001276
5 hydrocephalus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000238
6 hemiplegia/hemiparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004374
7 choroid plexus papilloma 56 32 hallmark (90%) Very frequent (99-80%) HP:0200022
8 headache 32 HP:0002315
9 vomiting 32 HP:0002013
10 nausea 32 HP:0002018
11 papilledema 32 HP:0001085
12 neoplasm 56 Occasional (29-5%)
13 abnormality of nervous system morphology 56 Very frequent (99-80%)

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 9.98 CDH1 CFLAR GFAP IGF2 KRT8 SMARCB1
2 digestive/alimentary MP:0005381 9.88 CDH1 GFAP IGF2 KRT8 SMARCB1 TP53
3 growth/size/body region MP:0005378 9.87 CDH1 CFLAR GFAP IGF2 KRT8 SMARCB1
4 homeostasis/metabolism MP:0005376 9.86 GFAP IGF2 KRT8 SMARCB1 TP53 TTR
5 embryo MP:0005380 9.85 CDH1 CFLAR IGF2 KRT8 SMARCB1 TP53
6 immune system MP:0005387 9.7 CDH1 CFLAR GFAP IGF2 KRT8 SMARCB1
7 muscle MP:0005369 9.35 CFLAR GFAP IGF2 SMARCB1 TP53
8 vision/eye MP:0005391 9.02 TP53 TTR GFAP IGF2 SMARCB1

Drugs & Therapeutics for Choroid Plexus Papilloma

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

(show all 27)
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 Investigational Phase 3 59763-91-6
3 Adjuvants, Anesthesia Phase 3
4 Analgesics Phase 3
5 Analgesics, Opioid Phase 3
6 Anesthetics Phase 3
7 Anesthetics, General Phase 3
8 Anesthetics, Intravenous Phase 3
9 Central Nervous System Depressants Phase 3
10 Liver Extracts Phase 3,Phase 1
11 Narcotics Phase 3
12 Peripheral Nervous System Agents Phase 3
13 Cola Nutraceutical Phase 3,Phase 1
14
Bevacizumab Approved, Investigational Phase 2 216974-75-3
15
nivolumab Approved Phase 2 946414-94-4
16 Angiogenesis Inhibitors Phase 2,Phase 1
17 Angiogenesis Modulating Agents Phase 2,Phase 1
18 Antibodies Phase 2
19 Antibodies, Monoclonal Phase 2
20 Immunoglobulins Phase 2
21
Entinostat Investigational Phase 1 209783-80-2
22
Docetaxel Approved May 1996, Investigational Phase 1 114977-28-5 148124 9877265
23 Histone Deacetylase Inhibitors Phase 1
24 Anti-Bacterial Agents Phase 1
25 Anti-Infective Agents Phase 1
26 Antimitotic Agents Phase 1
27 Immunosuppressive Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
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 bevacizumab;placebo
3 Immune Checkpoint Inhibitor Nivolumab in People With Select Rare CNS Cancers Recruiting NCT03173950 Phase 2 Nivolumab
4 MS-275 in Treating Patients With Advanced Solid Tumors or Lymphoma Completed NCT00020579 Phase 1 entinostat
5 Thalidomide and Docetaxel in Treating Patients With Advanced Cancer Completed NCT00049296 Phase 1 docetaxel;thalidomide

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, Liver, Bone, Pineal, Ovary, Pituitary

Publications for Choroid Plexus Papilloma

Articles related to Choroid Plexus Papilloma:

(show top 50) (show all 305)
id Title Authors Year
1
Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases. ( 28686125 )
2017
2
Interactions of antisera to different Chlamydia and Chlamydophila species with the ribosomal protein RPS27a correlate with impaired protein synthesis in a human choroid plexus papilloma cell line. ( 28913776 )
2017
3
A Primary Pigmented Choroid Plexus Papilloma Located Within the Sella Turcica: Case Report and Literature Review. ( 28684370 )
2017
4
A choroid plexus papilloma manifesting as anorexia nervosa in an adult. ( 28765434 )
2017
5
Atypical choroid plexus papilloma: clinicopathological and neuroradiological features. ( 28358248 )
2017
6
Spinal drop metastasis from a benign fourth ventricular choroid plexus papilloma in a pediatric patient: case report. ( 28841111 )
2017
7
Treating Cerebrospinal Fluid Rhinorrhea without Dura Repair: A Case Report of Posterior Fossa Choroid Plexus Papilloma and Review of the Literature. ( 28866068 )
2017
8
Lesson of the month 2: A choroid plexus papilloma manifesting as anorexia nervosa in an adult. ( 28365635 )
2017
9
Incidental choroid plexus papilloma in a child: A difficult decision. ( 28607820 )
2017
10
Choroid plexus papilloma. ( 28413558 )
2017
11
Ultrasonic elastography exploration of the foetal brain: A case of atypical choroid plexus papilloma. ( 28421905 )
2017
12
Primary choroid plexus papilloma of cerebellopontine angle: An unusual entity in infancy. ( 27857811 )
2016
13
Migration of a lateral ventricular choroid plexus papilloma: An uncommon occurrence. ( 27381143 )
2016
14
A mixed choroid plexus papilloma and ependymoma. ( 26670168 )
2016
15
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. ( 27442759 )
2016
16
Uncommon presentation of choroid plexus papilloma in an infant. ( 27195037 )
2016
17
Typical Symptoms of Normal-Pressure Hydrocephalus Caused by Choroid Plexus Papilloma in the Cerebellopontine Angle. ( 27913261 )
2016
18
Spinal seeding of choroid plexus papilloma. ( 26804647 )
2016
19
Choroid plexus papilloma in a beluga whale (Delphinapterus leucas). ( 27216722 )
2016
20
Sellar-Suprasellar Extraventricular Choroid Plexus Papilloma : A Case Report and Review of the Literature. ( 26885287 )
2016
21
Purely endoscopic resection of a choroid plexus papilloma of the third ventricle: case report. ( 25860986 )
2015
22
DYSPHONIA AS AN UNCOMMON PRESENTATION OF PONTOCEREBELLAR CHOROID PLEXUS PAPILLOMA. ( 26415322 )
2015
23
Pediatric atypical choroid plexus papilloma reconsidered: increased mitotic activity is prognostic only in older children. ( 25935663 )
2015
24
Case series of choroid plexus papilloma in children at uncommon locations and review of the literature. ( 26500797 )
2015
25
Lateral ventricular cystic choroid plexus papilloma presenting with recurrent drop attacks: A rare manifestation of a rare variant. ( 26238908 )
2015
26
Microsurgical treatment of atypical choroid plexus papilloma in the fourth ventricle. ( 26445956 )
2015
27
Endoscopic monoportal removal of a choroid plexus papilloma in the posterior third ventricle in a child. ( 25910036 )
2015
28
Posterior fossa tumor with distinct choroid plexus papilloma and ependymoma components. ( 25601059 )
2015
29
Choroid plexus papilloma arising in a mature cystic teratoma of the ovary: A short case report and literature review. ( 25913225 )
2015
30
Embolization of a giant hypervascularized choroid plexus papilloma with onyx by direct puncture: a case report. ( 26438551 )
2015
31
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
32
Choroid plexus papilloma in a dog surviving for 15 months after diagnosis with symptomatic therapy. ( 26321300 )
2015
33
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
34
A case of a choroid plexus papilloma mimicking a hemangioblastoma-letter to the editor. ( 26249660 )
2015
35
Endoscopic endonasal transplanum transtuberculum resection of a large solid choroid plexus papilloma of the third ventricle. ( 24480582 )
2014
36
Choroid plexus papilloma of posterior third ventricle: A case report and review of literature. ( 25685228 )
2014
37
Management of disseminated choroid plexus papilloma: A case study. ( 24038916 )
2014
38
How fast can a choroid plexus papilloma grow? ( 25037763 )
2014
39
Choroid plexus papilloma-A case highlighting the challenges of extrapolating pediatric chemotherapy regimens to adult populations. ( 25063761 )
2014
40
Retrosigmoid approach for resection of an extraventricular choroid plexus papilloma in the cerebellopontine angle. ( 24380509 )
2014
41
Spontaneous indirect CSF rhinorrhea following excision of a giant choroid plexus papilloma of lateral ventricle. ( 25591700 )
2014
42
Primary cerebellopontine angle choroid plexus papilloma in a child: a rare occurrence. ( 25237954 )
2014
43
Atypical choroid plexus papilloma treated with single agent bevacizumab. ( 24711901 )
2014
44
An unusual location for a choroid plexus papilloma: the pineal region. ( 24442139 )
2014
45
Use of tranexamic acid in infants undergoing choroid plexus papilloma surgery: a report of two cases. ( 24924340 )
2014
46
Giant choroid plexus papilloma of the lateral ventricle in fetus. ( 25250084 )
2014
47
Bevacizumab use in disseminated choroid plexus papilloma. ( 23761024 )
2013
48
Ossified choroid plexus papilloma of the fourth ventricle: elucidation of the mechanism of osteogenesis in benign brain tumors. ( 23641963 )
2013
49
Choroid plexus papilloma and Pierpont syndrome. ( 23176139 )
2013
50
Densely calcified atypical choroid plexus papilloma at the cerebellopontine angle in an adult. ( 24303341 )
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 COSM10646 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17
2 COSM10889 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17
3 COSM10662 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17
4 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 10.66 CFLAR TP53
2 10.17 KRT8 TP53

GO Terms for Choroid Plexus Papilloma

Cellular components related to Choroid Plexus Papilloma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 intermediate filament cytoskeleton GO:0045111 8.62 GFAP KRT8

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.96 CDH1 TTR
2 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....