MCID: PPL058
MIFTS: 48

Papilloma of Choroid Plexus

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

Aliases & Classifications for Papilloma of Choroid Plexus

MalaCards integrated aliases for Papilloma of Choroid Plexus:

Name: Papilloma of Choroid Plexus 57 76 53 59 75
Choroid Plexus Papilloma 57 12 53 59 75 37 29 13 6 15 40 73
Cpp 57 59 75
Childhood Choroid Plexus Papilloma 12 73
Choroid Plexus Carcinoma 59 73
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
Papilloma, Choroid Plexus 44
Papilloma Choroid Plexus 55

Characteristics:

Orphanet epidemiological data:

59
papilloma of choroid plexus
Age of onset: All ages;
choroid plexus carcinoma
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 260500
Disease Ontology 12 DOID:2626
MeSH 44 D020288
NCIt 50 C3698 C5800
SNOMED-CT 68 18021007 189911002
UMLS via Orphanet 74 C0431109 C0205770
ICD10 via Orphanet 34 C71.7 D33.0
MESH via Orphanet 45 D020288
KEGG 37 H01007

Summaries for Papilloma of Choroid Plexus

NIH Rare Diseases : 53 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.

MalaCards based summary : Papilloma of Choroid Plexus, also known as choroid plexus papilloma, is related to choroid plexus cancer and hydrocephalus, and has symptoms including headache, nausea and seizures. An important gene associated with Papilloma of Choroid Plexus is TP53 (Tumor Protein P53), and among its related pathways/superpathways are MAPK signaling pathway and Cell cycle. Affiliated tissues include brain, spinal cord and bone, and related phenotypes are hydrocephalus and seizures

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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 : 76 Choroid plexus papilloma, also known as papilloma of choroid plexus, is a rare benign neuroepithelial... more...

Related Diseases for Papilloma of Choroid Plexus

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

(show top 50) (show all 198)
# Related Disease Score Top Affiliating Genes
1 choroid plexus cancer 32.0 GFAP KCNJ13 TP53 TTR
2 hydrocephalus 29.7 GFAP SYP TP53 TTR
3 li-fraumeni syndrome 11.5
4 li-fraumeni syndrome 2 11.5
5 central precocious puberty 11.4
6 rhabdoid tumor predisposition syndrome 1 11.3
7 atypical choroid plexus papilloma 11.2
8 rhabdoid tumor predisposition syndrome 2 11.2
9 chondrocalcinosis 2 11.1
10 frontal convexity meningioma 10.8 GFAP TP53
11 gliofibroma 10.8 GFAP TP53
12 cerebral convexity meningioma 10.8 GFAP TP53
13 protoplasmic astrocytoma 10.8 GFAP TP53
14 mixed glioma 10.7 GFAP TP53
15 spinal cancer 10.7 GFAP TP53
16 ependymoblastoma 10.7 GFAP TP53
17 malignant ependymoma 10.7 GFAP TP53
18 fibrillary astrocytoma 10.7 GFAP TP53
19 atypical follicular adenoma 10.7 SYP TP53
20 cerebellum cancer 10.7 SYP TP53
21 gliomatosis cerebri 10.7 GFAP TP53
22 glycogen-rich clear cell breast carcinoma 10.7 SYP TP53
23 desmoplastic infantile ganglioglioma 10.7 GFAP SYP
24 extraventricular neurocytoma 10.7 GFAP SYP
25 sella turcica neoplasm 10.7 SYP TTR
26 lung combined type small cell carcinoma 10.7 GFAP SYP
27 brown-sequard syndrome 10.7 GFAP TTR
28 spinal cord astrocytoma 10.7 GFAP TP53
29 malignant giant cell tumor 10.7 S100B TP53
30 pulmonary blastoma 10.7 SYP TP53
31 meningeal melanomatosis 10.7 SYP TP53
32 tuberculum sellae meningioma 10.6 SYP TTR
33 gangliocytoma 10.6 GFAP SYP
34 rhabdoid meningioma 10.6 GFAP SYP
35 necrotizing sialometaplasia 10.6 GFAP TP53
36 pilomyxoid astrocytoma 10.6 GFAP SYP
37 central nervous system organ benign neoplasm 10.6 SYP TP53
38 subependymal glioma 10.6 GFAP SYP
39 chiari malformation 10.6 GFAP SYP
40 glomus tumor 10.6 SYP TP53
41 benign ependymoma 10.6 GFAP SYP
42 mixed cell type cancer 10.6 SYP TP53
43 astroblastoma 10.6 GFAP SYP
44 pineal gland cancer 10.6 GFAP SYP
45 obstructive hydrocephalus 10.6 GFAP SYP
46 microglandular adenosis 10.6 S100B TP53
47 medulloepithelioma 10.6 GFAP SYP
48 subependymoma 10.6 GFAP SYP
49 cervix small cell carcinoma 10.6 SYP TP53
50 gemistocytic astrocytoma 10.6 GFAP S100B

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



Diseases related to Papilloma of Choroid Plexus

Symptoms & Phenotypes for Papilloma of Choroid Plexus

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
seizures
headache
intraventricular choroid plexus papilloma
cranial nerve deficits
more
Head And Neck Eyes:
papilledema

Abdomen Gastrointestinal:
vomiting
nausea

Neoplasia:
malignant transformation of choroid plexus papilloma


Clinical features from OMIM:

260500

Human phenotypes related to Papilloma of Choroid Plexus:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
4 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
5 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
6 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
7 choroid plexus papilloma 59 32 hallmark (90%) Very frequent (99-80%) HP:0200022
8 vomiting 32 HP:0002013
9 neoplasm 59 Occasional (29-5%)
10 abnormality of nervous system morphology 59 Very frequent (99-80%)
11 papilledema 32 HP:0001085
12 headache 32 HP:0002315
13 nausea 32 HP:0002018

UMLS symptoms related to Papilloma of Choroid Plexus:


headache, nausea, seizures, vomiting

Drugs & Therapeutics for Papilloma of Choroid Plexus

Search Clinical Trials , NIH Clinical Center for Papilloma of Choroid Plexus

Cochrane evidence based reviews: papilloma, choroid plexus

Genetic Tests for Papilloma of Choroid Plexus

Genetic tests related to Papilloma of Choroid Plexus:

# Genetic test Affiliating Genes
1 Choroid Plexus Papilloma 29 TP53

Anatomical Context for Papilloma of Choroid Plexus

MalaCards organs/tissues related to Papilloma of Choroid Plexus:

41
Brain, Spinal Cord, Bone, Pineal, Ovary, Pituitary, T Cells

Publications for Papilloma of Choroid Plexus

Articles related to Papilloma of Choroid Plexus:

(show top 50) (show all 314)
# Title Authors Year
1
A unique presentation of an adolescent with disseminated atypical choroid plexus papilloma. ( 29770898 )
2018
2
Treating Cerebrospinal Fluid Rhinorrhea without Dura Repair: A Case Report of Posterior Fossa Choroid Plexus Papilloma and Review of the Literature. ( 28866068 )
2017
3
Choroid plexus papilloma. ( 28413558 )
2017
4
Spinal drop metastasis from a benign fourth ventricular choroid plexus papilloma in a pediatric patient: case report. ( 28841111 )
2017
5
A choroid plexus papilloma manifesting as anorexia nervosa in an adult. ( 28765434 )
2017
6
Ultrasonic elastography exploration of the foetal brain: A case of atypical choroid plexus papilloma. ( 28421905 )
2017
7
Atypical choroid plexus papilloma: clinicopathological and neuroradiological features. ( 28358248 )
2017
8
A Primary Pigmented Choroid Plexus Papilloma Located Within the Sella Turcica: Case Report and Literature Review. ( 28684370 )
2017
9
Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases. ( 28686125 )
2017
10
Incidental choroid plexus papilloma in a child: A difficult decision. ( 28607820 )
2017
11
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
12
Lesson of the month 2: A choroid plexus papilloma manifesting as anorexia nervosa in an adult. ( 28365635 )
2017
13
Primary choroid plexus papilloma of cerebellopontine angle: An unusual entity in infancy. ( 27857811 )
2016
14
Choroid Plexus Papilloma Arising From the Temporal Horn With a Bilateral Hypersecretory Hydrocephalus: A Case Report and Review of Literature. ( 28983364 )
2016
15
A mixed choroid plexus papilloma and ependymoma. ( 26670168 )
2016
16
Uncommon presentation of choroid plexus papilloma in an infant. ( 27195037 )
2016
17
Migration of a lateral ventricular choroid plexus papilloma: An uncommon occurrence. ( 27381143 )
2016
18
Sellar-Suprasellar Extraventricular Choroid Plexus Papilloma : A Case Report and Review of the Literature. ( 26885287 )
2016
19
Typical Symptoms of Normal-Pressure Hydrocephalus Caused by Choroid Plexus Papilloma in the Cerebellopontine Angle. ( 27913261 )
2016
20
Choroid plexus papilloma in a beluga whale (Delphinapterus leucas). ( 27216722 )
2016
21
Spinal seeding of choroid plexus papilloma. ( 26804647 )
2016
22
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. ( 27442759 )
2016
23
Case series of choroid plexus papilloma in children at uncommon locations and review of the literature. ( 26500797 )
2015
24
Choroid plexus papilloma arising in a mature cystic teratoma of the ovary: A short case report and literature review. ( 25913225 )
2015
25
A case of a choroid plexus papilloma mimicking a hemangioblastoma-letter to the editor. ( 26249660 )
2015
26
Embolization of a giant hypervascularized choroid plexus papilloma with onyx by direct puncture: a case report. ( 26438551 )
2015
27
Purely endoscopic resection of a choroid plexus papilloma of the third ventricle: case report. ( 25860986 )
2015
28
Pediatric atypical choroid plexus papilloma reconsidered: increased mitotic activity is prognostic only in older children. ( 25935663 )
2015
29
Posterior fossa tumor with distinct choroid plexus papilloma and ependymoma components. ( 25601059 )
2015
30
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
31
Endoscopic monoportal removal of a choroid plexus papilloma in the posterior third ventricle in a child. ( 25910036 )
2015
32
Choroid plexus papilloma in a dog surviving for 15 months after diagnosis with symptomatic therapy. ( 26321300 )
2015
33
Lateral ventricular cystic choroid plexus papilloma presenting with recurrent drop attacks: A rare manifestation of a rare variant. ( 26238908 )
2015
34
DYSPHONIA AS AN UNCOMMON PRESENTATION OF PONTOCEREBELLAR CHOROID PLEXUS PAPILLOMA. ( 26415322 )
2015
35
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
36
Microsurgical treatment of atypical choroid plexus papilloma in the fourth ventricle. ( 26445956 )
2015
37
How fast can a choroid plexus papilloma grow? ( 25037763 )
2014
38
An unusual location for a choroid plexus papilloma: the pineal region. ( 24442139 )
2014
39
Primary cerebellopontine angle choroid plexus papilloma in a child: a rare occurrence. ( 25237954 )
2014
40
Endoscopic endonasal transplanum transtuberculum resection of a large solid choroid plexus papilloma of the third ventricle. ( 24480582 )
2014
41
Retrosigmoid approach for resection of an extraventricular choroid plexus papilloma in the cerebellopontine angle. ( 24380509 )
2014
42
Management of disseminated choroid plexus papilloma: A case study. ( 24038916 )
2014
43
Spontaneous indirect CSF rhinorrhea following excision of a giant choroid plexus papilloma of lateral ventricle. ( 25591700 )
2014
44
Giant choroid plexus papilloma of the lateral ventricle in fetus. ( 25250084 )
2014
45
Use of tranexamic acid in infants undergoing choroid plexus papilloma surgery: a report of two cases. ( 24924340 )
2014
46
Choroid plexus papilloma-A case highlighting the challenges of extrapolating pediatric chemotherapy regimens to adult populations. ( 25063761 )
2014
47
Atypical choroid plexus papilloma treated with single agent bevacizumab. ( 24711901 )
2014
48
Choroid plexus papilloma of posterior third ventricle: A case report and review of literature. ( 25685228 )
2014
49
A sacro-caudal spinal cord choroid plexus papilloma in a shar-pei dog. ( 23731182 )
2013
50
Paratrigonal choroid plexus papilloma presenting with satellite multiple supra- and infratentorial hemorrhages. Neuroanatomical basis and pathological hypothesis. ( 23333804 )
2013

Variations for Papilloma of Choroid Plexus

ClinVar genetic disease variations for Papilloma of Choroid Plexus:

6
(show all 12)
# 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.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
3 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh38 Chromosome 17, 7673802: 7673802
4 TP53 NM_000546.5(TP53): c.475_481dupGCCATGG (p.Ala161Glyfs) duplication Pathogenic rs863223301 GRCh37 Chromosome 17, 7578449: 7578455
5 TP53 NM_000546.5(TP53): c.854A> T (p.Glu285Val) single nucleotide variant Pathogenic rs121912667 GRCh37 Chromosome 17, 7577084: 7577084
6 TP53 NM_000546.5(TP53): c.854A> T (p.Glu285Val) single nucleotide variant Pathogenic rs121912667 GRCh38 Chromosome 17, 7673766: 7673766
7 FOXO3 NM_001455.3(FOXO3): c.583A> T (p.Lys195Ter) single nucleotide variant other GRCh37 Chromosome 6, 108882994: 108882994
8 FOXO3 NM_001455.3(FOXO3): c.583A> T (p.Lys195Ter) single nucleotide variant other GRCh38 Chromosome 6, 108561791: 108561791
9 NF2 NM_000268.3(NF2): c.575A> G (p.Tyr192Cys) single nucleotide variant other GRCh37 Chromosome 22, 30051641: 30051641
10 NF2 NM_000268.3(NF2): c.575A> G (p.Tyr192Cys) single nucleotide variant other GRCh38 Chromosome 22, 29655652: 29655652
11 NSD1 NM_022455.4(NSD1): c.7147G> T (p.Gly2383Cys) single nucleotide variant other GRCh37 Chromosome 5, 176721516: 176721516
12 NSD1 NM_022455.4(NSD1): c.7147G> T (p.Gly2383Cys) single nucleotide variant other GRCh38 Chromosome 5, 177294515: 177294515

Cosmic variations for Papilloma of Choroid Plexus:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM10646 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.725G>A p.C242Y 17:7674238-7674238 17
2 COSM10889 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.536A>G p.H179R 17:7675076-7675076 17
3 COSM10662 TP53 central nervous system,choroid plexus,other,choroid plexus carcinoma c.743G>A p.R248Q 17:7674220-7674220 17
4 COSM1104 SMARCB1 central nervous system,choroid plexus,other,choroid plexus carcinoma c.233-1G>C p.? 22:23793558-23793558 17

Expression for Papilloma of Choroid Plexus

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

Pathways for Papilloma of Choroid Plexus

Pathways related to Papilloma of Choroid Plexus according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Cell cycle hsa04110
3 p53 signaling pathway hsa04115
4 Apoptosis hsa04210
5 Wnt signaling pathway hsa04310
6 Neurotrophin signaling pathway hsa04722
7 Pathways in cancer hsa05200

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

# Super pathways Score Top Affiliating Genes
1 10.7 GFAP S100B SYP

GO Terms for Papilloma of Choroid Plexus

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

# Name GO ID Score Top Affiliating Genes
1 long-term synaptic potentiation GO:0060291 9.37 GFAP S100B
2 cellular response to glucose starvation GO:0042149 9.32 MYBBP1A TP53
3 intrinsic apoptotic signaling pathway by p53 class mediator GO:0072332 9.26 MYBBP1A TP53
4 positive regulation of cell cycle arrest GO:0071158 9.16 MYBBP1A TP53
5 regulation of neuronal synaptic plasticity GO:0048168 8.96 S100B SYP
6 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 8.62 MUC1 TP53

Molecular functions related to Papilloma of Choroid Plexus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 GFAP S100B SYP TP53 TTR

Sources for Papilloma of Choroid Plexus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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