MCID: PNB001
MIFTS: 46

Pineoblastoma malady

Rare diseases, Neuronal diseases, Cancer diseases categories

Summaries for Pineoblastoma

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Pineoblastoma is a cancerous (malignant) tumor that develops in the pineal gland.  the pineal gland is located in the brain and makes the hormone melatonin to regulate the body's sleep patterns.  pineoblastoma is a type of primitive neuroectodermal tumor (pnet).  pineoblastoma mainly affects children, but can also occur in adults.  treatment of pineoblastoma includes surgery to remove as much of the tumor as possible, followed by radiation therapy and chemotherapy. last updated: 12/15/2011

MalaCards: Pineoblastoma, also known as pineal pnet, is related to retinoblastoma and pineocytoma. An important gene associated with Pineoblastoma is ASMT (acetylserotonin O-methyltransferase), and among its related pathways is Neuroscience. The compounds n-acetylaspartate and s 100 have been mentioned in the context of this disorder. Affiliated tissues include the brain, pineal and brain, and related mouse phenotypes are nervous system and normal.

Disease Ontology:9 A pineal gland neoplasm located in the brain.

Wikipedia:66 Pineoblastoma (also pinealoblastoma) is a malignant tumor of the pineal gland. A pineoblastoma is a... more...

Aliases & Classifications for Pineoblastoma

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 41NCIt, 59SNOMED-CT, 64UMLS via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
pineoblastoma:
Age of onset: Childhood; Age of death: Child / adolescent


Aliases & Descriptions:

pineoblastoma 9 44 11 46 50 63
pineal pnet 9


External Ids:

Disease Ontology9 DOID:1664
MeSH36 D010871
NCIt41 C9344
SNOMED-CT59 31671006
UMLS via Orphanet64 C0205898
SNOMED-CT via Orphanet60 31671006

Related Diseases for Pineoblastoma

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Pineoblastoma family:

Adult Pineoblastoma

Diseases related to Pineoblastoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1retinoblastoma30.5GFAP, TP53, SAG, ASMT, SYP
2pineocytoma30.4GFAP, SAG, ASMT, SYP
3medulloblastoma30.0SYP, SAG, TP53, GFAP
4astrocytoma30.0GFAP, TP53, SYP
5pineoblastoma, childhood10.4
6adult pineoblastoma10.2
7trilateral retinoblastoma10.2
8primitive neuroectodermal tumor10.2
9dysembryoplastic neuroepithelial tumor10.1SYP
10giant cell glioblastoma10.1GFAP
11melanotic neuroectodermal tumor10.1SYP
12gemistocytic astrocytoma10.1GFAP
13endophthalmitis10.1SAG
14gliomatosis cerebri10.1GFAP
15gliosarcoma10.1GFAP
16subependymal giant cell astrocytoma10.1SYP, GFAP
17papillary ependymoma10.1SYP, GFAP
18binswanger's disease10.1SYP, GFAP
19central neurocytoma10.1SYP, GFAP
20meningioma10.1GFAP, SYP
21hemangioblastoma10.1SYP, GFAP
22ganglioglioma10.1SYP, GFAP
23germinoma10.1POU5F1, CGA
24ganglioneuroma10.1GFAP, SYP
25dysgerminoma10.1POU5F1, CGA
26placental site trophoblastic tumor10.1CGA, LNPEP
27pilocytic astrocytoma10.1GFAP, SYP
28trophoblastic neoplasm10.1CGA, LNPEP
29ependymoma10.1GFAP, SYP
30choroid plexus papilloma10.1TP53, GFAP
31paraganglioma10.1SYP, GFAP
32tuberous sclerosis10.0SYP, GFAP
33gestational trophoblastic neoplasm10.0LNPEP, CGA
34teratoma10.0GFAP, POU5F1, CGA
35pituitary adenoma10.0CGA, SYP, POU5F1
36chordoid glioma10.0RFX3, ZFHX4
37seminoma10.0CGA, POU5F1, LNPEP
38oligodendroglioma10.0GFAP, TP53, SYP
39adrenocortical carcinoma10.0TP53, SYP
40malignant glioma10.0GFAP, TP53, SYP
41brain cancer10.0SYP, TP53, GFAP
42anaplastic astrocytoma10.0TP53, GFAP
43adenoma10.0TP53, SAG, SYP, CGA
44neuronitis10.0
45bilateral retinoblastoma10.0
46unilateral retinoblastoma10.0
47familial adenomatous polyposis10.0
48supratentorial primitive neuroectodermal tumor10.0
49medulloepithelioma10.0
50peritonitis10.0

Graphical network of the top 20 diseases related to Pineoblastoma:



Diseases related to pineoblastoma

Symptoms for Pineoblastoma

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Drugs & Therapeutics for Pineoblastoma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Pineoblastoma

Drug clinical trials:

Search ClinicalTrials for Pineoblastoma

Search NIH Clinical Center for Pineoblastoma

Search CenterWatch for Pineoblastoma

Genetic Tests for Pineoblastoma

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Anatomical Context for Pineoblastoma

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Sources:
34MalaCards, 15FMA
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MalaCards organs/tissues related to Pineoblastoma:

34
Pineal, Brain, Bone, Spinal cord

FMA organs/tissues related to Pineoblastoma:

15
The brain

Animal Models for Pineoblastoma or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Pineoblastoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.0TP53, POU5F1, SAG, SYP, CADPS, CGA
2MP:00028737.6SYP, FAM129A, RFX3, POU5F1, TP53, GFAP

Publications for Pineoblastoma

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Sources:
53PubMed
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Articles related to Pineoblastoma:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Incidence of pineal gland cyst and pineoblastoma in children with retinoblastoma during the chemoreduction era. (23876864)
2013
2
Donor transmission of pineoblastoma in a two-yr-old male recipient of a multivisceral transplant: a case report. (21281415)
2012
3
Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma. (22717647)
2012
4
The long-term postsurgical prognosis of patients with pineoblastoma. (21717450)
2012
5
Contemporary management of pineoblastoma. (21801990)
2011
6
Genome-wide molecular characterization of central nervous system primitive neuroectodermal tumor and pineoblastoma. (21798848)
2011
7
Post-chemotherapy maturation of a pineoblastoma. (20224924)
2010
8
Response of an adult patient with pineoblastoma to vorinostat and retinoic acid. (19506816)
2009
9
Outcome of pediatric pineoblastoma after surgery, radiation and chemotherapy. (18415046)
2008
10
Diffusion-weighted MR images and pineoblastoma: diagnosis and follow-up. (18392417)
2008
11
Congenital pineoblastoma and parameningeal rhabdomyosarcoma: concurrent two embryonal tumors in a young infant. (16283194)
2006
12
Cytogenetics of pineoblastoma: four new cases and a literature review. (17011992)
2006
13
Molecular genetics of supratentorial primitive neuroectodermal tumors and pineoblastoma. (16398467)
2005
14
Osseous metastasis of pineoblastoma: a case report and review of the literature. (16078108)
2005
15
Pineal parenchymal tumours: II. On the aggressive behaviour of pineoblastoma in patients with an inherited mutation of the RB1 gene. (15214647)
2004
16
Pathologic quiz case: a 15-year-old girl with an intracranial midline mass. Pineoblastoma, World Health Organization Grade IV. (15163221)
2004
17
Pathology case of the month. Tumor of the pineal region. Pineoblastoma, recurrent. (15233382)
2004
18
Surgical treatment of a mixed pineocytoma/pineoblastoma in a 72-year-old patient. (12021888)
2002
19
Detection of a pineoblastoma with large central cyst in a young child. (11981625)
2002
20
Vertebral metastases from pineoblastoma. (11419982)
2001
21
Long-term survival following extra-neural metastasis from a pineoblastoma. (11083078)
2000
22
Non-resective management of pineoblastoma. (11108118)
2000
23
Neuroradiological characteristics of pineocytoma and pineoblastoma. (10952183)
2000
24
F-18 FDG PET scan of a metastatic pineoblastoma. (10069738)
1999
25
Pineoblastoma showing unusual ventricular extension in a young adult--case report. (10487041)
1999
26
A new pineoblastoma cell line, PER-480, with der(10)t(10;17), der(16)t(1;16), and enhanced MYC expression in the absence of gene amplification. (9428362)
1998
27
Pineoblastoma presenting in familial adenomatous polyposis (FAP): random association, FAP variant or Turcot syndrome? (10070471)
1998
28
Treatment of patients with pineoblastoma with high dose cyclophosphamide. (8614374)
1996
29
Pineoblastoma in adults. (7501100)
1995
30
Lack of efficacy of postoperative chemotherapy and delayed radiation in very young children with pineoblastoma. Pediatric Oncology Group. (7753001)
1995
31
A case of pineoblastoma successfully treated with surgery, combined chemotherapy of cisplatin and etoposide, and radiotherapy]. (7477703)
1995
32
Pineoblastoma imaged during bone scintigraphy. (8565362)
1995
33
Nonresective treatment of pineoblastoma: a case report. (8553260)
1995
34
Enhanced MYCN expression and isochromosome 17q in pineoblastoma cell lines. (7513543)
1994
35
Response to neoadjuvant chemotherapy in children with pineoblastoma. (8348511)
1993
36
Successful combination chemotherapy (cisplatin, vinblastine, and bleomycin) with small-dose irradiation in the treatment of pineoblastoma metastasized into spinal cord: case report. (7688912)
1993
37
Metastatic pineoblastoma via a ventriculoperitoneal shunt: CT demonstration. (1394082)
1992
38
Concurrent benign teratoid medulloepithelioma and pineoblastoma. (1513537)
1992
39
Implantation metastasis of pineoblastoma after stereotactic biopsy. Case report. (2195142)
1990
40
Phase II treatment of medulloblastoma and pineoblastoma with melphalan: clinical therapy based on experimental models of human medulloblastoma. (2738624)
1989
41
Interstitial deletion of chromosome 11q in a pineoblastoma. (2731139)
1989
42
Pineoblastoma in a cockatiel. (3196277)
1988
43
Familial pineoblastoma. Report of two cases. (3998847)
1985
44
Concurrent pineoblastoma and unilateral retinoblastoma: a forme fruste of trilateral retinoblastoma? (4047365)
1985
45
Trilateral retinoblastoma. Pineoblastoma (ectopic intracranial retinoblastoma) associated with bilateral retinoblastoma. (6544387)
1984
46
Pineoblastoma, a primitive neuroectodermal tumor in the brain of a horse. (7147618)
1982
47
Pineoblastoma with ganglionic and glial differentiation: report of two cases. (7349581)
1981
48
The separation of pineocytoma from pineoblastoma. (6986979)
1980
49
Pineoblastoma: an electron microscopic study. (498040)
1979
50
Pineoblastoma with spontaneous intra and extracranial metastasis. (4548088)
1974

Variations for Pineoblastoma

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Expression for genes affiliated with Pineoblastoma

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pineoblastoma

Search GEO for disease gene expression data for Pineoblastoma.

Pathways for genes affiliated with Pineoblastoma

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Sources:
51PathCards, 5Cell Signaling Technology
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Pathways related to Pineoblastoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SYP, SAG, GFAP

Compounds for genes affiliated with Pineoblastoma

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Sources:
46Novoseek, 52PharmGKB, 62Tocris Bioscience, 12DrugBank, 25HMDB, 30IUPHAR
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Compounds related to Pineoblastoma according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1n-acetylaspartate4610.3GFAP, SYP
2s 1004610.3SYP, GFAP
3reticulin4610.2GFAP, SYP
48-bromo-cyclic amp4610.2CGA, GFAP
5letrozole46 52 62 1213.1CGA, SYP
6bcnu4610.0TP53, GFAP
7dutp469.8SYP, TP53, GFAP
85-hydroxytryptamine469.8SYP, ASMT, SAG, GFAP
9guanine46 25 1211.8TP53, SAG, SYP
10cystine469.7CGA, LNPEP
11dbc-amp469.7GFAP, ASMT, SYP, CGA
12butyrate469.7ASMT, TP53, GFAP
13etoposide46 52 62 1212.6TP53, SYP, CGA
14sucrose46 25 1211.6SYP, SAG, LNPEP
15streptozotocin469.6SYP, GFAP
16acth469.6LNPEP, GFAP, SYP
17acetylcholine46 52 30 25 1213.5GFAP, SYP, CGA
18glutamate469.5GFAP, SAG, SYP, CGA
19cyclic amp46 2510.4GFAP, SAG, ASMT, SYP, CGA
20norepinephrine46 25 1211.4POU5F1, SYP, CADPS, CGA
21carboplatin46 52 1211.4CGA, TP53, LNPEP
22leucine469.4LNPEP, GFAP, SAG, SYP
23glycogen46 2510.3SYP, GFAP, LNPEP
24forskolin46 52 1211.3LNPEP, GFAP, SYP, CGA
25paraffin469.3GFAP, TP53, SAG, SYP, CGA
26paclitaxel46 52 1211.2TP53, GFAP, LNPEP
27vegf469.2CGA, SYP, POU5F1, TP53, GFAP
28cycloheximide469.1CGA, TP53, GFAP, LNPEP
29alanine469.0LNPEP, GFAP, SAG, CGA
30arginine469.0LNPEP, GFAP, TP53, CGA
31dopamine46 30 25 1211.9CGA, CADPS, SYP, SAG, POU5F1, GFAP
32cisplatin46 52 62 1211.9LNPEP, GFAP, TP53, SYP, CGA
33progesterone46 30 62 25 1212.9CGA, SYP, TP53, GFAP, LNPEP
34serine468.9CGA, SYP, SAG, TP53, GFAP

GO Terms for genes affiliated with Pineoblastoma

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17Gene Ontology
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Cellular components related to Pineoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058297.8CADPS, ASMT, SAG, POU5F1, TP53, GFAP

Biological processes related to Pineoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to woundingGO:0096119.9POU5F1, GFAP
2positive regulation of transcription from RNA polymerase II promoterGO:0459448.7CGA, RFX3, POU5F1, TP53

Molecular functions related to Pineoblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:0442129.3RFX3, POU5F1, TP53

Products for genes affiliated with Pineoblastoma

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Sources for Pineoblastoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet