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MCID: LRG003
MIFTS: 31

Large Cell Medulloblastoma

Categories: Cancer diseases, Neuronal diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Large Cell Medulloblastoma

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MalaCards integrated aliases for Large Cell Medulloblastoma:

Name: Large Cell Medulloblastoma 12 15 73

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:3857
NCIt 50 C6904
UMLS 73 C1266180
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Summaries for Large Cell Medulloblastoma

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Disease Ontology : 12 A medulloblastoma that is characterized by cells that are larger than would be normally expected.

MalaCards based summary : Large Cell Medulloblastoma is related to medulloblastoma and anaplastic/large cell medulloblastoma, and has symptoms including vomiting, gait ataxia and headache. An important gene associated with Large Cell Medulloblastoma is SYP (Synaptophysin), and among its related pathways/superpathways are Pathways in cancer and MAPK signaling pathway. The drugs Etoposide and Topoisomerase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and ovary, and related phenotype is behavior/neurological.

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Related Diseases for Large Cell Medulloblastoma

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Diseases related to Large Cell Medulloblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 medulloblastoma 29.9 HGF MYC PAX6 SYP
2 anaplastic/large cell medulloblastoma 12.3
3 venous hemangioma 10.1 MYC SYP
4 cerebral primitive neuroectodermal tumor 10.1 MYC SYP
5 medullomyoblastoma 10.1 MYC SYP
6 infratentorial cancer 10.1 MYC SYP
7 peripheral nervous system neoplasm 10.1 MYC SYP
8 central nervous system cancer 10.1 MYC SYP
9 nervous system cancer 10.0 MYC SYP
10 endocrine gland cancer 9.9 MYC SYP
11 alveolar soft part sarcoma 9.9 MET SYP
12 deafness, autosomal recessive 39 9.9 HGF MET
13 deafness, autosomal recessive 97 9.9 HGF MET
14 endometrial squamous cell carcinoma 9.9 HGF MET
15 doxorubicin induced cardiomyopathy 9.9 HGF MET
16 papillary thyroid microcarcinoma 9.9 HGF MET
17 familial renal papillary carcinoma 9.9 HGF MET
18 respiratory system cancer 9.9 MET MYC
19 spindle cell synovial sarcoma 9.9 HGF MET
20 spinal chordoma 9.9 HGF MET
21 gastrointestinal system cancer 9.8 MET MYC
22 aicardi syndrome 9.8
23 salivary gland carcinoma 9.8 HGF MET
24 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.8 HGF MET
25 ewing sarcoma 9.8 MYC PAX6 SYP
26 large intestine cancer 9.7 HGF MET MYC
27 lung cancer 9.3 HGF MET MYC SYP

Graphical network of the top 20 diseases related to Large Cell Medulloblastoma:



Diseases related to Large Cell Medulloblastoma
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Symptoms & Phenotypes for Large Cell Medulloblastoma

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UMLS symptoms related to Large Cell Medulloblastoma:


vomiting, gait ataxia, headache

MGI Mouse Phenotypes related to Large Cell Medulloblastoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.02 MET MYC PAX6 PRDM13 SYP
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Drugs & Therapeutics for Large Cell Medulloblastoma

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Drugs for Large Cell Medulloblastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoposide Approved Phase 2 33419-42-0 36462
2 Topoisomerase Inhibitors Phase 2
3 Etoposide phosphate Phase 2
4 Antineoplastic Agents, Phytogenic Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Interest of a Dose Decrease for Radiotherapy Associated With Chemotherapy for Treatment of Standard Risk Adult Medulloblastomas Recruiting NCT01857453 Phase 2 carboplatine;Etoposide

Search NIH Clinical Center for Large Cell Medulloblastoma

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Genetic Tests for Large Cell Medulloblastoma

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Anatomical Context for Large Cell Medulloblastoma

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MalaCards organs/tissues related to Large Cell Medulloblastoma:

41
Brain, Lung, Ovary, Thyroid, Pineal, Salivary Gland
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Publications for Large Cell Medulloblastoma

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Articles related to Large Cell Medulloblastoma:

# Title Authors Year
1
Aggressive large cell medulloblastoma extending to the extracranial region in brain-dead state. ( 21533576 )
2011
2
Occult leptomeningeal large cell medulloblastoma in an adult. ( 19537136 )
2009
3
Large cell medulloblastoma with myogenic and melanotic differentiation: a case report with molecular analysis. ( 18317693 )
2008
4
Functional and molecular interactions between the HGF/c-Met pathway and c-Myc in large-cell medulloblastoma. ( 18059365 )
2008
5
Differentiation of classic medulloblastoma into metastatic large cell medulloblastoma with focal rhabdoid differentiation in the absence of posterior fossa recurrence. ( 15759130 )
2005
6
Large-cell medulloblastoma in Aicardi syndrome. Case report and literature review. ( 15534766 )
2004
7
Large-cell medulloblastoma with arrestin-like protein expression. ( 12617187 )
2003
8
Multiple genomic alterations including N-myc amplification in a primary large cell medulloblastoma. ( 10940769 )
2000
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Variations for Large Cell Medulloblastoma

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Expression for Large Cell Medulloblastoma

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Search GEO for disease gene expression data for Large Cell Medulloblastoma.
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Pathways for Large Cell Medulloblastoma

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Pathways related to Large Cell Medulloblastoma according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Pathways in cancer 37
12.48 HGF MET MYC
2
MAPK signaling pathway 37 1
12.4 HGF MET MYC
3
Gastric cancer 37
Show member pathways
 12.39 HGF MET MYC
4
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.04 HGF MET PAX6
5
ErbB signaling pathway 1 37
Show member pathways
 11.94 HGF MET MYC
6
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 11.84 HGF MET MYC
7
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.7 HGF MET MYC
8
Proteoglycans in cancer 37
11.64 HGF MET MYC
9
Listeria monocytogenes entry into host cells 66
Show member pathways
 11.56 HGF MET
10
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.47 PAX6 SYP
11
Central carbon metabolism in cancer 37
11.35 MET MYC
12
P38 MAPK Signaling Pathway (sino) 67
11.32 MYC PAX6
13
Malaria 37
11.18 HGF MET
14
FGF signaling pathway 1
11.15 HGF MET
15
Signaling events mediated by TCPTP 1
Show member pathways
 11.06 HGF MET
16
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.05 HGF MET MYC PAX6
17
Stabilization and expansion of the E-cadherin adherens junction 1
11.01 HGF MET
18
Arf6 signaling events 1
10.9 HGF MET
19
Extracellular vesicle-mediated signaling in recipient cells 1
10.73 HGF MET
20
Syndecan-1-mediated signaling events 1
10.19 HGF MET
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GO Terms for Large Cell Medulloblastoma

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Biological processes related to Large Cell Medulloblastoma according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.71 HGF MET MYC PAX6
2 negative regulation of apoptotic process GO:0043066 9.67 HGF MET MYC
3 cell proliferation GO:0008283 9.61 HGF MET MYC
4 liver development GO:0001889 9.48 HGF MET
5 response to wounding GO:0009611 9.46 MYC PAX6
6 MAPK cascade GO:0000165 9.43 HGF MET MYC
7 positive chemotaxis GO:0050918 9.37 HGF MET
8 negative regulation of autophagy GO:0010507 9.32 HGF MET
9 positive regulation of DNA biosynthetic process GO:2000573 9.16 HGF MYC
10 hepatocyte growth factor receptor signaling pathway GO:0048012 8.96 HGF MET
11 negative regulation of hydrogen peroxide-mediated programmed cell death GO:1901299 8.62 HGF MET

Molecular functions related to Large Cell Medulloblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.62 HGF MET
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Sources for Large Cell Medulloblastoma

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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