MCID: LRG003
MIFTS: 31

Large Cell Medulloblastoma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Large Cell Medulloblastoma

MalaCards integrated aliases for Large Cell Medulloblastoma:

Name: Large Cell Medulloblastoma 12 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:3857
NCIt 50 C6904
UMLS 73 C1266180

Summaries for Large Cell Medulloblastoma

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.

Related Diseases for Large Cell Medulloblastoma

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



Diseases related to Large Cell Medulloblastoma

Symptoms & Phenotypes for Large Cell Medulloblastoma

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

Drugs & Therapeutics for Large Cell Medulloblastoma

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

Genetic Tests for Large Cell Medulloblastoma

Anatomical Context for Large Cell Medulloblastoma

MalaCards organs/tissues related to Large Cell Medulloblastoma:

41
Brain, Lung, Ovary, Thyroid, Pineal, Salivary Gland

Publications for Large Cell Medulloblastoma

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

Variations for Large Cell Medulloblastoma

Expression for Large Cell Medulloblastoma

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

Pathways for Large Cell Medulloblastoma

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1 12.48 HGF MET MYC
2 12.4 HGF MET MYC
3
Show member pathways
12.39 HGF MET MYC
4
Show member pathways
12.04 HGF MET PAX6
5
Show member pathways
11.94 HGF MET MYC
6
Show member pathways
11.84 HGF MET MYC
7
Show member pathways
11.7 HGF MET MYC
8 11.64 HGF MET MYC
9
Show member pathways
11.56 HGF MET
10 11.47 PAX6 SYP
11 11.35 MET MYC
12 11.32 MYC PAX6
13 11.18 HGF MET
14 11.15 HGF MET
15
Show member pathways
11.06 HGF MET
16 11.05 HGF MET MYC PAX6
17 11.01 HGF MET
18 10.9 HGF MET
19 10.73 HGF MET
20 10.19 HGF MET

GO Terms for Large Cell Medulloblastoma

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

Sources for Large Cell Medulloblastoma

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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