PTPR
MCID: PPL050
MIFTS: 31

Papillary Tumor of the Pineal Region (PTPR)

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 58 17
Ptpr 58

Characteristics:

Orphanet epidemiological data:

58
papillary tumor of the pineal region
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 D44.5
UMLS via Orphanet 71 C2985219
Orphanet 58 ORPHA251915

Summaries for Papillary Tumor of the Pineal Region

MalaCards based summary : Papillary Tumor of the Pineal Region, also known as ptpr, is related to pineocytoma and pineal gland cancer. An important gene associated with Papillary Tumor of the Pineal Region is S100A1 (S100 Calcium Binding Protein A1), and among its related pathways/superpathways are Neuroscience and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include pineal, spinal cord and pituitary, and related phenotypes are nausea and vomiting and diplopia

Wikipedia : 73 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 295)
# Related Disease Score Top Affiliating Genes
1 pineocytoma 31.5 SYP ENO2
2 pineal gland cancer 31.5 SYP ENO2
3 obstructive hydrocephalus 30.7 SYP ENO2
4 secretory meningioma 30.2 VIM MUC1
5 cellular ependymoma 30.1 VIM SYP MUC1
6 papilloma of choroid plexus 29.9 SYP MUC1 ENO2
7 rhabdoid meningioma 29.4 VIM SYP ENO2 BRAF
8 oncocytoma 29.3 VIM SYP S100A1 MUC1
9 papillary carcinoma 29.3 SYP S100A1 MUC1 BRAF
10 meningioma, familial 29.3 VIM SYP S100A1 MUC1
11 pineoblastoma 11.0
12 hydrocephalus 10.7
13 rare tumor 10.5
14 benign ependymoma 10.4
15 intracranial hypertension 10.4
16 squamous cell papilloma 10.3
17 papilloma 10.3
18 papillary ependymoma 10.3
19 pathologic nystagmus 10.3
20 ectomesenchymoma 10.2 S100A1 ENO2
21 fibroma 10.2 VIM S100A1
22 neurofibrosarcoma 10.2 S100A1 ENO2
23 primitive neuroectodermal tumor of the cervix uteri 10.2 VIM ENO2
24 bednar tumor 10.2 VIM ENO2
25 congenital epulis 10.2 VIM ENO2
26 epulis 10.2 VIM ENO2
27 ewing sarcoma of bone 10.2 VIM ENO2
28 thyroid cancer, nonmedullary, 1 10.1
29 down syndrome 10.1
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
31 intracranial meningioma 10.1
32 sensorineural hearing loss 10.1
33 amenorrhea 10.1
34 germinoma 10.1
35 craniopharyngioma 10.1
36 papillary craniopharyngioma 10.1
37 lymphoplasmacyte-rich meningioma 10.1
38 chromosomal triplication 10.1
39 hydromyelia 10.1
40 thyroid carcinoma 10.1
41 chondromyxoid fibroma 10.1 VIM S100A1
42 juvenile xanthogranuloma 10.1 S100A1 BRAF
43 congenital fibrosarcoma 10.1 VIM S100A1
44 pilomatrix carcinoma 10.1 MUC1 ENO2
45 intracranial cysts 10.1 MUC1 ENO2
46 intraneural perineurioma 10.1 S100A1 MUC1
47 meningeal melanocytoma 10.1 MUC1 ENO2
48 spindle cell thymoma 10.1 MUC1 ENO2
49 cutaneous fibrous histiocytoma 10.1 VIM S100A1
50 ischemic fasciitis 10.1 S100A1 MUC1

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:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 diplopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000651
3 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
4 increased intracranial pressure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002516
5 headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002315
6 memory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002354
7 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
8 episodic ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002131
9 increased csf protein 58 31 frequent (33%) Frequent (79-30%) HP:0002922
10 altitudinal visual field defect 58 31 frequent (33%) Frequent (79-30%) HP:0030531
11 abnormal eyelid morphology 31 frequent (33%) HP:0000492
12 hearing abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000364
13 difficulty walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0002355
14 cognitive impairment 58 Frequent (79-30%)
15 abnormality of the eyelid 58 Frequent (79-30%)

Drugs & Therapeutics for Papillary Tumor of the Pineal Region

Search Clinical Trials , 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:

40
Pineal, Spinal Cord, Pituitary

Publications for Papillary Tumor of the Pineal Region

Articles related to Papillary Tumor of the Pineal Region:

(show top 50) (show all 120)
# Title Authors PMID Year
1
PTEN R130Q Papillary Tumor of the Pineal Region (PTPR) with Chromosome 10 Loss Successfully Treated with Everolimus: A Case Report. 61
33804593 2021
2
Papillary tumor of the pineal region in pediatric populations: An additional case and systematic review of a rare tumor entity. 61
33360024 2021
3
PTP-3 phosphatase promotes intramolecular folding of SYD-2 to inactivate kinesin-3 UNC-104 in neurons. 61
33147118 2020
4
BxCDP1 from the pine wood nematode Bursaphelenchus xylophilus is recognized as a novel molecular pattern. 61
32319206 2020
5
Papillary tumor of the pineal region: a single-center experience. 61
33133629 2020
6
A Comprehensive, Multi-Modal Strategy to Mitigate Alzheimer's Disease Risk Factors Improves Aspects of Metabolism and Offsets Cognitive Decline in Individuals with Cognitive Impairment. 61
32715281 2020
7
Radiotherapy for papillary tumor of the pineal region: A systematic review of the literature. 61
31896492 2020
8
Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations. 61
31768671 2020
9
Molecular characterization of histopathological ependymoma variants. 61
31679042 2020
10
Increased VEGF levels in a case of papillary tumor of the pineal region with intracranial hemorrhage: a potential surrogate indicator of tumor angiogenesis and aggressiveness? 61
26745494 2020
11
Papillary Tumor of the Pineal Region with Parinaud Syndrome: A Case Report. 61
33081665 2020
12
Papillary tumor in pineal region: Immunohistochemistry meeting the diagnostic challenge. 61
32031133 2020
13
Papillary Tumor of the Pineal Region: Systematic Review and Analysis of Prognostic Factors. 61
30989225 2019
14
An Effector, BxSapB1, Induces Cell Death and Contributes to Virulence in the Pine Wood Nematode Bursaphelenchus xylophilus. 61
30351223 2019
15
Primary pineal tumors - Unraveling histological challenges and certain clinical myths. 61
31085866 2019
16
Papillary Ependymoma of the Spinal Cord: A Case Report with Summary of Prior Published Cases. 61
30937039 2019
17
Papillary tumor of the pineal region: Case report and review of the literature. 61
29691144 2019
18
Durable response to mTOR inhibition in a patient with relapsing papillary tumor of the pineal region. 61
30295836 2019
19
Recurrent Pineocytomalike Papillary Tumor of The Pineal Region: A Case Report and Literature Review. 61
30165231 2018
20
Microsurgical Resection of Posterior Third Ventricular/Pineal Region Papillary Tumor Via Supracerebellar Infratentorial Approach: 3-Dimensional Operative Video. 61
29788336 2018
21
Papillary Tumor of the Pineal Region in Children: Presentation of a Case and Comprehensive Literature Review. 61
29906576 2018
22
Papillary tumor of the pineal region accompanied by Parinaud's syndrome: magnetic resonance imaging findings. 61
29991845 2018
23
Unedited microneurosurgery of a large recurrent papillary tumor of the pineal region. 61
30595955 2018
24
One burr-hole craniotomy: Posterior interhemispheric approach in Helsinki Neurosurgery. 61
30283716 2018
25
Histology-Stratified Tumor Control and Patient Survival After Stereotactic Radiosurgery for Pineal Region Tumors: A Report From the International Gamma Knife Research Foundation. 61
28751141 2017
26
Hepatic protein tyrosine phosphatase receptor gamma links obesity-induced inflammation to insulin resistance. 61
29180649 2017
27
Nuclear CRX and FOXJ1 Expression Differentiates Non-Germ Cell Pineal Region Tumors and Supports the Ependymal Differentiation of Papillary Tumor of the Pineal Region. 61
28719464 2017
28
Supraorbital subfrontal trans-laminar endoscope-assisted approach for tumors of the posterior third ventricle. 61
28236180 2017
29
Loss-of-function of PTPR γ and ζ, observed in sporadic schizophrenia, causes brain region-specific deregulation of monoamine levels and altered behavior in mice. 61
28025742 2017
30
The Tetraspanin-Associated Uroplakins Family (UPK2/3) Is Evolutionarily Related to PTPRQ, a Phosphotyrosine Phosphatase Receptor. 61
28099513 2017
31
The Role of Adjuvant Radiotherapy in the Treatment of Papillary Tumors of the Pineal Region: Some General Considerations and a Case Report. 61
29271218 2017
32
Cytologic features of papillary tumor of the pineal region: A case report showing tigroid background. 61
27535020 2016
33
Long-term follow-up of a papillary tumor of the pineal region: addendum to a case report. 61
27568037 2016
34
A case of papillary tumor of the pineal region with a long clinical history: molecular characterization and therapeutic consideration with review of the literature. 61
27472995 2016
35
Papillary tumor of pineal region: A rare entity. 61
27695568 2016
36
Papillary Tumor of the Pineal Region: A Distinct Molecular Entity. 61
26113311 2016
37
Papillary tumor of pineal region with an unusual clinical presentation: Case report and review of the literature. 61
26889301 2016
38
Late dissemination via cerebrospinal fluid of papillary tumor of the pineal region: a case report and literature review. 61
27179224 2016
39
Papillary tumor of the pineal region: A case report and review of the literature. 61
26622493 2015
40
Lack of BRAF-V600E Mutation in Papillary Tumor of the Pineal Region. 61
26125673 2015
41
Papillary tumor of the pineal region presenting with Foster Kennedy sign. 61
26183673 2015
42
Papillary tumor of the pineal region with synchronous suprasellar focus and novel cytogenetic features. 61
26068071 2015
43
Outcomes After Surgery and Radiotherapy for Papillary Tumor of the Pineal Region. 61
25749579 2015
44
Papillary tumor of the pineal region-report of three cases with literature review. 61
26238893 2015
45
Papillary tumor of the pineal region: Histopathological characterization and review of the literature. 61
24556386 2015
46
Pineal tumours: Experience of the French National Register and the Lyon School, results and considerations. 61
24933478 2015
47
No 5-ALA fluorescence seen in a recurrent papillary tumour of the pineal region (PTPR). 61
25520052 2015
48
Receptor-type protein tyrosine phosphatases in cancer. 61
25322863 2015
49
Papillary tumor of the pineal region with extended clinical and radiologic follow-up. 61
26539320 2015
50
Papillary Tumor of the Pineal Region: MR Signal Intensity Correlated to Histopathology. 61
25688307 2015

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 SYP MAP2 ENO2
2 10.7 VIM SYP MAP2

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 8.92 VIM SYP MAP2 BRAF

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

# Name GO ID Score Top Affiliating Genes
1 scaffold protein binding GO:0097110 8.62 VIM BRAF

Sources for Papillary Tumor of the Pineal Region

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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