MCID: LRG003
MIFTS: 33

Large Cell Medulloblastoma

Categories: Cancer diseases, Neuronal diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Large Cell Medulloblastoma

MalaCards integrated aliases for Large Cell Medulloblastoma:

Name: Large Cell Medulloblastoma 11 14 16 71

Classifications:



External Ids:

Disease Ontology 11 DOID:3857
NCIt 49 C6904
SNOMED-CT 68 128790006
UMLS 71 C1266180

Summaries for Large Cell Medulloblastoma

Disease Ontology: 11 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 brain cancer, and has symptoms including vomiting, headache and gait ataxia. An important gene associated with Large Cell Medulloblastoma is SHH (Sonic Hedgehog Signaling Molecule), and among its related pathways/superpathways are Signaling by Hedgehog and Wnt / Hedgehog / Notch. Affiliated tissues include brain, and related phenotypes are normal and nervous system

Related Diseases for Large Cell Medulloblastoma

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

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 medulloblastoma 29.8 SYP SUFU SHH PTCH1 OTX2 MYCN
2 brain cancer 29.3 SYP SHH PTCH1 MYCN
3 anaplastic/large cell medulloblastoma 11.3
4 primary ovarian insufficiency 6 10.3 SUFU SHH
5 melanotic medulloblastoma 10.3 SUFU SHH
6 spinal ependymoma, mycn-amplified 10.2 MYCN MYC
7 polydactyly, preaxial ii 10.2 SHH PTCH1
8 cerebral primitive neuroectodermal tumor 10.2 MYCN MYC
9 basal cell carcinoma, infundibulocystic 10.2 SUFU PTCH1
10 penis carcinoma in situ 10.2 SUFU PTCH1
11 holoprosencephaly 6 10.2 SHH PTCH1
12 anterior cranial fossa meningioma 10.2 SUFU PTCH1
13 duodenal atresia 10.1 SHH MYCN
14 acrocapitofemoral dysplasia 10.1 SHH PTCH1
15 microphthalmia, syndromic 3 10.1 SHH OTX2 MYCN
16 holoprosencephaly 9 10.1 SHH GLI2
17 feingold syndrome 1 10.1 SHH MYCN MYC
18 combined pituitary hormone deficiencies, genetic forms 10.1 OTX2 GLI2
19 megalencephaly 10.1 PTCH1 MYCN
20 culler-jones syndrome 10.0 SHH GLI2
21 colobomatous microphthalmia 10.0 SHH PTCH1 OTX2
22 holoprosencephaly, recurrent infections, and monocytosis 10.0 PTCH1 GLI2
23 vacterl association 10.0 SHH GLI2
24 nodular ganglioneuroblastoma 10.0 SYP MYCN
25 extracranial neuroblastoma 10.0 SYP MYCN
26 rhabdoid meningioma 10.0 SYP SUFU
27 holoprosencephaly 7 10.0 PTCH1 GLI2
28 clear cell meningioma 10.0 SYP SUFU
29 adrenal neuroblastoma 10.0 SYP MYCN
30 cerebrovascular benign neoplasm 9.9 SYP SHH
31 prostate neuroendocrine neoplasm 9.9 SYP MYCN
32 horner's syndrome 9.9 SYP MYCN
33 medulloepithelioma 9.9 SYP MYCN
34 obstructive hydrocephalus 9.9 SYP SHH
35 septooptic dysplasia 9.9 SHH OTX2 GLI2
36 differentiating neuroblastoma 9.9 SYP MYCN
37 coloboma of macula 9.9 SHH PTCH1 OTX2
38 smith-magenis syndrome 9.9
39 aicardi syndrome 9.9
40 ewing sarcoma 9.9
41 angiosarcoma 9.9
42 hydrocephalus 9.9
43 communicating hydrocephalus 9.9
44 melanotic neuroectodermal tumor 9.9
45 islet cell tumor 9.9
46 teratoma 9.9
47 hepatoblastoma 9.9
48 monosomy 22 9.9
49 hypopituitarism 9.9 SHH OTX2 GLI2
50 myxopapillary ependymoma 9.9 SYP MYCN

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; headache; gait ataxia

MGI Mouse Phenotypes related to Large Cell Medulloblastoma:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 10.18 CLDN6 GLI2 MYC MYCN OTX2 PTCH1
2 nervous system MP:0003631 10.15 GLI2 MYC MYCN OTX2 PRDM13 PTCH1
3 no phenotypic analysis MP:0003012 10.05 CLDN6 GLI2 MYC MYCN PTCH1 SHH
4 embryo MP:0005380 10.01 CLDN6 GLI2 MYC MYCN OTX2 PTCH1
5 limbs/digits/tail MP:0005371 10 CLDN6 GLI2 MYC MYCN PTCH1 SHH
6 behavior/neurological MP:0005386 9.96 GLI2 MYC MYCN OTX2 PRDM13 PTCH1
7 muscle MP:0005369 9.95 GLI2 MYC MYCN OTX2 PTCH1 SHH
8 pigmentation MP:0001186 9.93 CLDN6 MYC OTX2 PTCH1 SUFU
9 craniofacial MP:0005382 9.92 CLDN6 GLI2 MYC MYCN OTX2 PTCH1
10 hearing/vestibular/ear MP:0005377 9.91 GLI2 MYC OTX2 PTCH1 RAB11FIP3 SHH
11 digestive/alimentary MP:0005381 9.91 GLI2 MYC MYCN OTX2 PTCH1 SHH
12 respiratory system MP:0005388 9.63 GLI2 MYCN OTX2 PTCH1 SHH SUFU
13 vision/eye MP:0005391 9.5 GLI2 MYCN OTX2 PRDM13 PTCH1 SHH
14 taste/olfaction MP:0005394 8.8 OTX2 PTCH1 SHH

Drugs & Therapeutics for Large Cell Medulloblastoma

Search Clinical Trials, NIH Clinical Center for Large Cell Medulloblastoma

Genetic Tests for Large Cell Medulloblastoma

Anatomical Context for Large Cell Medulloblastoma

Organs/tissues related to Large Cell Medulloblastoma:

MalaCards : Brain

Publications for Large Cell Medulloblastoma

Articles related to Large Cell Medulloblastoma:

(show all 26)
# Title Authors PMID Year
1
Cerebellar swelling after surgery for medulloblastoma with leptomeningeal dissemination in children. A case based-update. 62
33340509 2021
2
Surgical management of posterior fossa medulloblastoma in children: The Lyon experience. 62
33482236 2021
3
5ALA in pediatric brain tumors is not routinely beneficial. 62
28293736 2017
4
Demographics, patterns of care, and survival in pediatric medulloblastoma. 62
28290003 2017
5
The gut or the brain?--Gastrointestinal misdiagnoses of infantile brain tumors. 62
24535228 2014
6
Histological variants of medulloblastoma are the most powerful clinical prognostic indicators. 62
22693015 2013
7
Aggressive large cell medulloblastoma extending to the extracranial region in brain-dead state. 62
21533576 2011
8
Magnetic resonance imaging spectrum of medulloblastoma. 62
21279509 2011
9
Diffuse postoperative cerebellar swelling in medulloblastoma: report of two cases. 62
21103880 2011
10
PARP1 expression in pediatric central nervous system tumors. 62
19533660 2009
11
Occult leptomeningeal large cell medulloblastoma in an adult. 62
19537136 2009
12
Histologic features and prognosis in pediatric medulloblastoma. 62
18201118 2008
13
Large cell medulloblastoma with myogenic and melanotic differentiation: a case report with molecular analysis. 62
18317693 2008
14
Functional and molecular interactions between the HGF/c-Met pathway and c-Myc in large-cell medulloblastoma. 62
18059365 2008
15
Morphophenotype of medulloblastoma in children and adults. The size of nuclei. 62
17007445 2006
16
Three-dimensional (3D) reconstruction and quantitative analysis of the microvasculature in medulloblastoma and ependymoma subtypes. 62
17109194 2006
17
Anaplasia is rare and does not influence prognosis in adult medulloblastoma. 62
16215458 2005
18
Differentiation of classic medulloblastoma into metastatic large cell medulloblastoma with focal rhabdoid differentiation in the absence of posterior fossa recurrence. 62
15759130 2005
19
Large-cell medulloblastoma in Aicardi syndrome. Case report and literature review. 62
15534766 2004
20
Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries. 62
12800201 2003
21
Large-cell medulloblastoma with arrestin-like protein expression. 62
12617187 2003
22
[The new WHO classification of tumors of the nervous system 2000. Pathology and genetics]. 62
12185780 2002
23
The WHO classification of tumors of the nervous system. 62
11895036 2002
24
Multiple genomic alterations including N-myc amplification in a primary large cell medulloblastoma. 62
10940769 2000
25
2000 World Health Organization classification of tumors of the nervous system. 62
11247393 2000
26
Large-cell medulloblastomas. A distinct variant with highly aggressive behavior. 62
1530108 1992

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.2 SUFU SHH PTCH1 GLI2
2 11.99 GLI2 PTCH1 SHH SUFU
3 11.84 SHH OTX2 MYC
4 11.82 SYP MYCN MYC
5 11.23 GLI2 MYCN SHH
6
Show member pathways
11.14 MYCN MYC
7 11.14 SHH PTCH1 GLI2
8
Show member pathways
11.1 PTCH1 GLI2
9 11.08 SUFU SHH PTCH1 GLI2
10
Show member pathways
11.05 SHH PTCH1 GLI2
11 11 SHH GLI2
12 10.91 SHH OTX2 GLI2
13
Show member pathways
10.85 OTX2 MYC
14 10.84 SUFU SHH PTCH1 GLI2
15 10.55 SHH PTCH1
16 10.4 SHH PTCH1
17 10.32 SHH PTCH1 MYC GLI2
18 10.16 MYCN MYC

GO Terms for Large Cell Medulloblastoma

Cellular components related to Large Cell Medulloblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GLI-SUFU complex GO:1990788 8.8 SUFU GLI2

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.41 SUFU SHH PTCH1 PRDM13 MYC GLI2
2 positive regulation of DNA-templated transcription GO:0045893 10.36 SHH PTCH1 OTX2 MYCN MYC GLI2
3 branching involved in ureteric bud morphogenesis GO:0001658 10 SHH PTCH1 MYC
4 stem cell proliferation GO:0072089 9.96 GLI2 PTCH1 SHH
5 hindbrain development GO:0030902 9.95 SHH GLI2
6 osteoblast development GO:0002076 9.94 SHH GLI2
7 somite development GO:0061053 9.94 SHH PTCH1
8 smooth muscle tissue development GO:0048745 9.93 SHH PTCH1
9 pattern specification process GO:0007389 9.93 SHH PTCH1 GLI2
10 prostate gland development GO:0030850 9.92 SHH PTCH1
11 positive regulation of T cell differentiation in thymus GO:0033089 9.91 GLI2 SHH
12 metanephric collecting duct development GO:0072205 9.91 SHH PTCH1
13 positive regulation of epithelial cell proliferation GO:0050679 9.9 SHH MYC GLI2
14 negative regulation of cell division GO:0051782 9.89 PTCH1 MYC
15 dorsal/ventral pattern formation GO:0009953 9.89 SHH PTCH1 GLI2
16 smoothened signaling pathway GO:0007224 9.8 SUFU SHH PTCH1 GLI2
17 hindgut morphogenesis GO:0007442 9.76 SHH GLI2
18 epithelial cell proliferation GO:0050673 9.75 SHH PTCH1 GLI2
19 mammary gland duct morphogenesis GO:0060603 9.74 PTCH1 GLI2
20 ventral midline development GO:0007418 9.73 GLI2 SHH
21 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.72 SUFU GLI2
22 negative regulation of smoothened signaling pathway GO:0045879 9.72 SUFU PTCH1 GLI2
23 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 9.71 GLI2 SUFU
24 negative regulation of hh target transcription factor activity GO:1990787 9.69 SUFU GLI2
25 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.65 SHH GLI2
26 anatomical structure formation involved in morphogenesis GO:0048646 9.62 SHH GLI2
27 spinal cord motor neuron differentiation GO:0021522 9.55 SHH PTCH1 GLI2
28 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.54 SUFU GLI2
29 dorsal/ventral neural tube patterning GO:0021904 9.35 SHH PTCH1 GLI2
30 spinal cord dorsal/ventral patterning GO:0021513 9.02 SUFU SHH GLI2

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

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 8.92 SHH PTCH1

Sources for Large Cell Medulloblastoma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....