MCID: ANP028
MIFTS: 17

Anaplastic/large Cell Medulloblastoma

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Anaplastic/large Cell Medulloblastoma

MalaCards integrated aliases for Anaplastic/large Cell Medulloblastoma:

Name: Anaplastic/large Cell Medulloblastoma 58 6

Characteristics:

Orphanet epidemiological data:

58
anaplastic/large cell medulloblastoma
Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 C71.6
Orphanet 58 ORPHA251855

Summaries for Anaplastic/large Cell Medulloblastoma

MalaCards based summary : Anaplastic/large Cell Medulloblastoma is related to large cell medulloblastoma and medulloblastoma. An important gene associated with Anaplastic/large Cell Medulloblastoma is BRCA2 (BRCA2 DNA Repair Associated), and among its related pathways/superpathways are Pathways in cancer and Glioma. Affiliated tissues include brain, eye and cerebellum.

Related Diseases for Anaplastic/large Cell Medulloblastoma

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 large cell medulloblastoma 9.7 BRCA2 ALK
2 medulloblastoma 9.7 BRCA2 ALK
3 b-lymphoblastic leukemia/lymphoma 9.7 BRCA2 ALK
4 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 9.7 BRCA2 ALK
5 lymphoma 9.6 BRCA2 ALK
6 atypical teratoid rhabdoid tumor 9.6 BRCA2 ALK
7 rare breast tumor 9.6 BRCA2 ALK
8 lung squamous cell carcinoma 9.6 BRCA2 ALK
9 adenocarcinoma 9.6 BRCA2 ALK
10 pancreatic adenocarcinoma 9.5 BRCA2 ALK
11 brain cancer 9.5 BRCA2 ALK
12 leukemia, chronic lymphocytic 9.5 BRCA2 ALK
13 leukemia, acute myeloid 9.4 BRCA2 ALK
14 neuroblastoma 9.2 BRCA2 ALK

Graphical network of the top 20 diseases related to Anaplastic/large Cell Medulloblastoma:



Diseases related to Anaplastic/large Cell Medulloblastoma

Symptoms & Phenotypes for Anaplastic/large Cell Medulloblastoma

Drugs & Therapeutics for Anaplastic/large Cell Medulloblastoma

Search Clinical Trials , NIH Clinical Center for Anaplastic/large Cell Medulloblastoma

Genetic Tests for Anaplastic/large Cell Medulloblastoma

Anatomical Context for Anaplastic/large Cell Medulloblastoma

MalaCards organs/tissues related to Anaplastic/large Cell Medulloblastoma:

40
Brain, Eye, Cerebellum

Publications for Anaplastic/large Cell Medulloblastoma

Articles related to Anaplastic/large Cell Medulloblastoma:

# Title Authors PMID Year
1
The gut or the brain?--Gastrointestinal misdiagnoses of infantile brain tumors. 61
24535228 2014
2
Histological variants of medulloblastoma are the most powerful clinical prognostic indicators. 61
22693015 2013
3
Histologic features and prognosis in pediatric medulloblastoma. 61
18201118 2008

Variations for Anaplastic/large Cell Medulloblastoma

ClinVar genetic disease variations for Anaplastic/large Cell Medulloblastoma:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRCA2 NM_000059.3(BRCA2):c.9433G>C (p.Val3145Leu)SNV Conflicting interpretations of pathogenicity 141038 rs587776476 13:32969002-32969002 13:32394865-32394865
2 ALK NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser)SNV Uncertain significance 404335 rs375889530 2:29448339-29448339 2:29225473-29225473
3 BRCA2 NM_000059.3(BRCA2):c.3916G>A (p.Val1306Ile)SNV Benign 37866 rs80358636 13:32912408-32912408 13:32338271-32338271

Expression for Anaplastic/large Cell Medulloblastoma

Search GEO for disease gene expression data for Anaplastic/large Cell Medulloblastoma.

Pathways for Anaplastic/large Cell Medulloblastoma

Pathways related to Anaplastic/large Cell Medulloblastoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.68 BRCA2 ALK
2
Show member pathways
11.22 BRCA2 ALK

GO Terms for Anaplastic/large Cell Medulloblastoma

Cellular components related to Anaplastic/large Cell Medulloblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 8.62 BRCA2 ALK

Biological processes related to Anaplastic/large Cell Medulloblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 8.62 BRCA2 ALK

Sources for Anaplastic/large Cell Medulloblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....