MCID: PPL050
MIFTS: 35

Papillary Tumor of the Pineal Region

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Papillary Tumor of the Pineal Region

MalaCards integrated aliases for Papillary Tumor of the Pineal Region:

Name: Papillary Tumor of the Pineal Region 59
Ptpr 59

Characteristics:

Orphanet epidemiological data:

59
papillary tumor of the pineal region
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA251915
ICD10 via Orphanet 34 D44.5
UMLS via Orphanet 74 C2985219

Summaries for Papillary Tumor of the Pineal Region

MalaCards based summary : Papillary Tumor of the Pineal Region, also known as ptpr, is related to pineal gland cancer and pineocytoma. An important gene associated with Papillary Tumor of the Pineal Region is VIM (Vimentin), and among its related pathways/superpathways are Neuroscience and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include pineal and brain, and related phenotypes are hydrocephalus and diplopia

Wikipedia : 76 Papillary tumors of the pineal region (PTPR) were first described by A. Jouvet et al. in 2003 and were... more...

Related Diseases for Papillary Tumor of the Pineal Region

Diseases related to Papillary Tumor of the Pineal Region via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 203)
# Related Disease Score Top Affiliating Genes
1 pineal gland cancer 31.0 ENO2 SYP
2 pineocytoma 31.0 ENO2 SYP
3 pineoblastoma 10.6
4 primary hepatic neuroendocrine carcinoma 10.6 SYP VIM
5 angiocentric glioma 10.5 SYP VIM
6 medulloepithelioma 10.5 SYP VIM
7 myxosarcoma 10.5 S100A1 SYP
8 chondromyxoid fibroma 10.5 S100A1 VIM
9 malignant peritoneal mesothelioma 10.5 MUC1 VIM
10 ischemic fasciitis 10.5 MUC1 S100A1
11 parachordoma 10.5 MUC1 VIM
12 fibrous meningioma 10.5 MUC1 VIM
13 malignant mixed mullerian tumor 10.5 MUC1 VIM
14 nodular hidradenoma 10.5 MUC1 VIM
15 eccrine porocarcinoma 10.5 MUC1 VIM
16 endometrial mucinous adenocarcinoma 10.5 MUC1 VIM
17 biphasic synovial sarcoma 10.5 MUC1 VIM
18 myxopapillary ependymoma 10.5 MUC1 VIM
19 monophasic synovial sarcoma 10.5 MUC1 VIM
20 myoepithelioma 10.5 S100A1 VIM
21 spiradenoma 10.5 MUC1 VIM
22 syringoma 10.5 MUC1 VIM
23 juvenile xanthogranuloma 10.4 BRAF VIM
24 pleomorphic liposarcoma 10.4 MUC1 VIM
25 metanephric adenoma 10.4 BRAF VIM
26 hidradenoma 10.4 MUC1 VIM
27 mucinous cystadenocarcinoma 10.4 MUC1 VIM
28 mesenchymal chondrosarcoma 10.4 MUC1 VIM
29 perineurioma 10.4 MUC1 VIM
30 dermoid cyst 10.4 MUC1 VIM
31 spindle cell sarcoma 10.4 MUC1 VIM
32 ovarian small cell carcinoma 10.4 MUC1 SYP
33 intraneural perineurioma 10.4 MUC1 S100A1
34 dendritic cell tumor 10.4 MUC1 VIM
35 ampulla of vater neoplasm 10.4 MUC1 SYP
36 hemangiopericytoma, malignant 10.4 MUC1 VIM
37 bile duct adenocarcinoma 10.4 MUC1 S100A1
38 benign mesothelioma 10.4 MUC1 VIM
39 papilloma of choroid plexus 10.4 MUC1 SYP
40 papillary adenocarcinoma 10.3 MUC1 VIM
41 secretory meningioma 10.3 MUC1 VIM
42 osteofibrous dysplasia 10.3 MUC1 VIM
43 malignant fibroxanthoma 10.3 MUC1 VIM
44 fasciitis 10.3 MUC1 VIM
45 gastric tubular adenocarcinoma 10.3 MUC1 SYP
46 villous adenoma 10.3 BRAF MUC1
47 chiari malformation 10.3 MAP2 SYP
48 dysembryoplastic neuroepithelial tumor 10.3 MAP2 SYP
49 epithelioid sarcoma 10.3 MUC1 VIM
50 rosette-forming glioneuronal tumor 10.3 MAP2 SYP

Graphical network of the top 20 diseases related to Papillary Tumor of the Pineal Region:



Diseases related to Papillary Tumor of the Pineal Region

Symptoms & Phenotypes for Papillary Tumor of the Pineal Region

Human phenotypes related to Papillary Tumor of the Pineal Region:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
2 diplopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000651
3 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
4 headache 59 32 hallmark (90%) Very frequent (99-80%) HP:0002315
5 memory impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002354
6 increased intracranial pressure 59 32 hallmark (90%) Very frequent (99-80%) HP:0002516
7 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
8 episodic ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002131
9 increased csf protein 59 32 frequent (33%) Frequent (79-30%) HP:0002922
10 altitudinal visual field defect 59 32 frequent (33%) Frequent (79-30%) HP:0030531
11 hearing abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000364
12 difficulty walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0002355
13 abnormality of the eyelid 59 Frequent (79-30%)
14 cognitive impairment 59 Frequent (79-30%)
15 abnormal eyelid morphology 32 frequent (33%) HP:0000492

MGI Mouse Phenotypes related to Papillary Tumor of the Pineal Region:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.1 BRAF ENO2 MAP2 S100A1 SYP VIM

Drugs & Therapeutics for Papillary Tumor of the Pineal Region

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 SJDAWN: St. Jude Children's Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors Recruiting NCT03434262 Phase 1 Gemcitabine;ribociclib;sonidegib;trametinib

Search NIH Clinical Center for Papillary Tumor of the Pineal Region

Genetic Tests for Papillary Tumor of the Pineal Region

Anatomical Context for Papillary Tumor of the Pineal Region

MalaCards organs/tissues related to Papillary Tumor of the Pineal Region:

41
Pineal, Brain

Publications for Papillary Tumor of the Pineal Region

Articles related to Papillary Tumor of the Pineal Region:

(show all 30)
# Title Authors Year
1
Papillary tumor of the pineal region: Case report and review of the literature. ( 29691144 )
2018
2
Papillary tumor of the pineal region in children: presentation of a case and comprehensive literature review. ( 29906576 )
2018
3
Nuclear CRX and FOXJ1 Expression Differentiates Non-Germ Cell Pineal Region Tumors and Supports the Ependymal Differentiation of Papillary Tumor of the Pineal Region. ( 28719464 )
2017
4
Papillary Tumor of the Pineal Region: A Distinct Molecular Entity. ( 26113311 )
2016
5
Late dissemination via cerebrospinal fluid of papillary tumor of the pineal region: a case report and literature review. ( 27179224 )
2016
6
Increased VEGF levels in one case of papillary tumor of the pineal region with intracranial haemorrhage at presentation: a potential surrogate indicator of tumor angiogenesis and aggressiveness? ( 26745494 )
2016
7
Cytologic features of papillary tumor of the pineal region: A case report showing tigroid background. ( 27535020 )
2016
8
A case of papillary tumor of the pineal region with a long clinical history: molecular characterization and therapeutic consideration with review of the literature. ( 27472995 )
2016
9
Long-term follow-up of a papillary tumor of the pineal region: addendum to a case report. ( 27568037 )
2016
10
Papillary tumor of the pineal region with extended clinical and radiologic follow-up. ( 26539320 )
2015
11
Lack of BRAF-V600E Mutation in Papillary Tumor of the Pineal Region. ( 26125673 )
2015
12
Papillary tumor of the pineal region-report of three cases with literature review. ( 26238893 )
2015
13
Papillary tumor of the pineal region presenting with Foster Kennedy sign. ( 26183673 )
2015
14
Papillary tumor of the pineal region: A case report and review of the literature. ( 26622493 )
2015
15
Papillary tumor of the pineal region: Histopathological characterization and review of the literature. ( 24556386 )
2015
16
Papillary tumor of the pineal region with synchronous suprasellar focus and novel cytogenetic features. ( 26068071 )
2015
17
Outcomes After Surgery and Radiotherapy for Papillary Tumor of the Pineal Region. ( 25749579 )
2015
18
Papillary Tumor of the Pineal Region: MR Signal Intensity Correlated to Histopathology. ( 25688307 )
2015
19
Papillary tumor of the pineal region. Report of two cases and literature review. ( 25440015 )
2014
20
PTEN mutations and activation of the PI3K/Akt/mTOR signaling pathway in papillary tumors of the pineal region. ( 25003235 )
2014
21
Stereotactic radiosurgery of a papillary tumor of the pineal region: case report and review of the literature. ( 23446182 )
2013
22
Bevacizumab is Effective for Recurrent Papillary Tumor of the Pineal Region: First Report. ( 24019784 )
2013
23
Papillary tumor of the pineal region with anaplastic small cell component. ( 23817812 )
2013
24
Early treatment response of a rare papillary tumor of the pineal region after primary proton-beam therapy using the raster-scanning technique at HIT. ( 23235766 )
2012
25
Histopathologic and ultrastructural features and claudin expression in papillary tumors of the pineal region: a multicenter analysis. ( 22588068 )
2012
26
Clinicopathological features from long-term observation of a papillary tumor of the pineal region (PTPR): a case report. ( 19856220 )
2009
27
Papillary tumor of the pineal region--a recently described entity: a report of three cases and review of the literature. ( 19642509 )
2009
28
Papillary tumor of the pineal region: a case report. ( 18987834 )
2008
29
Prognosis and histopathologic features in papillary tumors of the pineal region: a retrospective multicenter study of 31 cases. ( 17021405 )
2006
30
Papillary tumor of the pineal region. ( 12657936 )
2003

Variations for Papillary Tumor of the Pineal Region

Expression for Papillary Tumor of the Pineal Region

Search GEO for disease gene expression data for Papillary Tumor of the Pineal Region.

Pathways for Papillary Tumor of the Pineal Region

Pathways related to Papillary Tumor of the Pineal Region according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.67 ENO2 MAP2 SYP
2 10.7 MAP2 SYP VIM

GO Terms for Papillary Tumor of the Pineal Region

Cellular components related to Papillary Tumor of the Pineal Region according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.02 BRAF MAP2 S100A1 SYP VIM

Biological processes related to Papillary Tumor of the Pineal Region according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to organic substance GO:0071310 8.62 MAP2 SYP

Molecular functions related to Papillary Tumor of the Pineal Region according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.92 BRAF S100A1 SYP VIM

Sources for Papillary Tumor of the Pineal Region

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
Content
Loading form....