Large Cell Medulloblastoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Large Cell Medulloblastoma

MalaCards integrated aliases for Large Cell Medulloblastoma:

Name: Large Cell Medulloblastoma ¹¹ ¹⁴ ¹⁶ ⁷¹

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:3857

NCIt ⁴⁹ C6904

SNOMED-CT ⁶⁸ 128790006

EFO ¹⁶ EFO_0008508

UMLS ⁷¹ C1266180

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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

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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:

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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

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Drugs & Therapeutics for Large Cell Medulloblastoma

Search Clinical Trials, 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

Organs/tissues related to Large Cell Medulloblastoma:

MalaCards : Brain

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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	Todeschi J...Klein O	33340509	2021
2	Surgical management of posterior fossa medulloblastoma in children: The Lyon experience. ⁶²	Grassiot B...Mottolese C	33482236	2021
3	5ALA in pediatric brain tumors is not routinely beneficial. ⁶²	Roth J...Constantini S	28293736	2017
4	Demographics, patterns of care, and survival in pediatric medulloblastoma. ⁶²	Dressler EV...Villano JL	28290003	2017
5	The gut or the brain?--Gastrointestinal misdiagnoses of infantile brain tumors. ⁶²	Teo WY...Myseros JS	24535228	2014
6	Histological variants of medulloblastoma are the most powerful clinical prognostic indicators. ⁶²	Massimino M...Giangaspero F	22693015	2013
7	Aggressive large cell medulloblastoma extending to the extracranial region in brain-dead state. ⁶²	Miwa T...Ida H	21533576	2011
8	Magnetic resonance imaging spectrum of medulloblastoma. ⁶²	Fruehwald-Pallamar J...Thurnher MM	21279509	2011
9	Diffuse postoperative cerebellar swelling in medulloblastoma: report of two cases. ⁶²	Ogiwara H...Alden TD	21103880	2011
10	PARP1 expression in pediatric central nervous system tumors. ⁶²	Barton VN...Foreman NK	19533660	2009
11	Occult leptomeningeal large cell medulloblastoma in an adult. ⁶²	Rushing EJ...Azumi N	19537136	2009
12	Histologic features and prognosis in pediatric medulloblastoma. ⁶²	Verma S...Gilles FH	18201118	2008
13	Large cell medulloblastoma with myogenic and melanotic differentiation: a case report with molecular analysis. ⁶²	Polydorides AD...Edgar MA	18317693	2008
14	Functional and molecular interactions between the HGF/c-Met pathway and c-Myc in large-cell medulloblastoma. ⁶²	Li Y...Abounader R	18059365	2008
15	Morphophenotype of medulloblastoma in children and adults. The size of nuclei. ⁶²	Dagostino C...Giordana MT	17007445	2006
16	Three-dimensional (3D) reconstruction and quantitative analysis of the microvasculature in medulloblastoma and ependymoma subtypes. ⁶²	Gilhuis HJ...Wesseling P	17109194	2006
17	Anaplasia is rare and does not influence prognosis in adult medulloblastoma. ⁶²	Giordana MT...Chio A	16215458	2005
18	Differentiation of classic medulloblastoma into metastatic large cell medulloblastoma with focal rhabdoid differentiation in the absence of posterior fossa recurrence. ⁶²	Donner LR	15759130	2005
19	Large-cell medulloblastoma in Aicardi syndrome. Case report and literature review. ⁶²	Palmer L...Kyllerman M	15534766	2004
20	Novel tumor antigens identified by autologous antibody screening of childhood medulloblastoma cDNA libraries. ⁶²	Behrends U...Mautner J	12800201	2003
21	Large-cell medulloblastoma with arrestin-like protein expression. ⁶²	Vincent S...Ruchoux MM	12617187	2003
22	[The new WHO classification of tumors of the nervous system 2000. Pathology and genetics]. ⁶²	Radner H...Wiestler OD	12185780	2002
23	The WHO classification of tumors of the nervous system. ⁶²	Kleihues P...Cavenee WK	11895036	2002
24	Multiple genomic alterations including N-myc amplification in a primary large cell medulloblastoma. ⁶²	Reardon DA...Kun LK	10940769	2000
25	2000 World Health Organization classification of tumors of the nervous system. ⁶²	Biernat W	11247393	2000
26	Large-cell medulloblastomas. A distinct variant with highly aggressive behavior. ⁶²	Giangaspero F...Montaldi A	1530108	1992

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Genes for Large Cell Medulloblastoma

Genes related to Large Cell Medulloblastoma (0 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	5.93	DISEASES inferred ¹⁴
2	SUFU	SUFU Negative Regulator Of Hedgehog Signaling	Protein Coding	5.84	DISEASES inferred ¹⁴
3	JKAMP	JNK1/MAPK8 Associated Membrane Protein	Protein Coding	5.76	DISEASES inferred ¹⁴
4	MYCN	MYCN Proto-Oncogene, BHLH Transcription Factor	Protein Coding	5.63	DISEASES inferred ¹⁴
5	FAM184A	Family With Sequence Similarity 184 Member A	Protein Coding	5.61	DISEASES inferred ¹⁴
6	OTX2	Orthodenticle Homeobox 2	Protein Coding	5.39	DISEASES inferred ¹⁴
7	RAB11FIP3	RAB11 Family Interacting Protein 3	Protein Coding	5.21	DISEASES inferred ¹⁴
8	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	5.1	DISEASES inferred ¹⁴
9	PTCH1	Patched 1	Protein Coding	5.04	DISEASES inferred ¹⁴
10	PRDM13	PR/SET Domain 13	Protein Coding	5	DISEASES inferred ¹⁴
11	GLI2	GLI Family Zinc Finger 2	Protein Coding	4.97	DISEASES inferred ¹⁴
12	SYP	Synaptophysin	Protein Coding	4.84	DISEASES inferred ¹⁴
13	CLDN6	Claudin 6	Protein Coding	4.81	DISEASES inferred ¹⁴

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Variations for Large Cell Medulloblastoma

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Expression for Large Cell Medulloblastoma

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

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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	Signaling by Hedgehog ⁶⁶ Show member pathways Hedgehog 'off' state ⁶⁶	12.2	SUFU SHH PTCH1 GLI2
2	Wnt / Hedgehog / Notch ³	11.99	GLI2 PTCH1 SHH SUFU
3	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.84	SHH OTX2 MYC
4	GDNF signaling ⁷⁴	11.82	SYP MYCN MYC
5	Development of ureteric collection system ⁷⁴	11.23	GLI2 MYCN SHH
6	Signaling by ALK ⁶⁶ Show member pathways STAT3 nuclear events downstream of ALK signaling ⁶⁶	11.14	MYCN MYC
7	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.14	SHH PTCH1 GLI2
8	Tumor suppressor activity of SMARCB1 ⁷⁴ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶	11.1	PTCH1 GLI2
9	Hedgehog signaling pathway ⁷⁴	11.08	SUFU SHH PTCH1 GLI2
10	Signaling events mediated by the Hedgehog family ⁶¹ Show member pathways HHAT G278V doesn't palmitoylate Hh-Np ⁶⁶ Ligand-receptor interactions ⁶⁶	11.05	SHH PTCH1 GLI2
11	Oligodendrocyte specification and differentiation, leading to myelin components for CNS ⁷⁴	11	SHH GLI2
12	Dopaminergic neurogenesis ⁷⁴	10.91	SHH OTX2 GLI2
13	TP53 network ⁷⁴ Show member pathways Activation, translocation and oligomerization of BAX ⁶⁶	10.85	OTX2 MYC
14	Hedgehog signaling events mediated by Gli proteins ⁶¹	10.84	SUFU SHH PTCH1 GLI2
15	EDA signaling in hair follicle development ⁷⁴	10.55	SHH PTCH1
16	Glypican 3 network ⁶¹	10.4	SHH PTCH1
17	Hair follicle development: organogenesis - part 2 of 3 ⁷⁴	10.32	SHH PTCH1 MYC GLI2
18	Notch Pathway ⁷⁰	10.16	MYCN MYC

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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

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Sources for Large Cell Medulloblastoma

¹ BitterDB

² CDC

³ Cell Signaling Technology

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

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³⁰ HPO

³¹ ICD10

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³³ ICD11

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³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

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⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: LRG003 MIFTS: 33	Large Cell Medulloblastoma Categories: Cancer diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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