MCID: CRB015
MIFTS: 28

Cerebellar Angioblastoma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Cerebellar Angioblastoma

MalaCards integrated aliases for Cerebellar Angioblastoma:

Name: Cerebellar Angioblastoma 12 15
Hemangioblastoma of Cerebellum 12
Cerebellar Hemangioblastoma 73

Classifications:



External Ids:

Disease Ontology 12 DOID:6500
NCIt 50 C5146
UMLS 73 C1332900

Summaries for Cerebellar Angioblastoma

MalaCards based summary : Cerebellar Angioblastoma, also known as hemangioblastoma of cerebellum, is related to wilms tumor 6 and leukemia, and has symptoms including cerebellar ataxia An important gene associated with Cerebellar Angioblastoma is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways are ErbB signaling pathway and Transcriptional misregulation in cancer. Affiliated tissues include cerebellum, brain and ovary, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Cerebellar Angioblastoma

Graphical network of the top 20 diseases related to Cerebellar Angioblastoma:



Diseases related to Cerebellar Angioblastoma

Symptoms & Phenotypes for Cerebellar Angioblastoma

UMLS symptoms related to Cerebellar Angioblastoma:


cerebellar ataxia

GenomeRNAi Phenotypes related to Cerebellar Angioblastoma according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.58 WT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.58 TP53
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.58 TP53
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.58 WT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.58 TP53
6 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.58 WT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.58 TP53
8 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.58 TP53
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.58 TP53
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.58 WT1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.58 WT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.58 WT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.58 TP53 WT1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.58 TP53
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.58 WT1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.58 WT1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 WT1
18 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 VHL WT1

MGI Mouse Phenotypes related to Cerebellar Angioblastoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.54 TP53 VHL WT1
2 liver/biliary system MP:0005370 9.5 TP53 VHL WT1
3 muscle MP:0005369 9.43 TP53 VHL WT1
4 neoplasm MP:0002006 9.33 TP53 VHL WT1
5 normal MP:0002873 9.13 TP53 VHL WT1
6 renal/urinary system MP:0005367 8.8 TP53 VHL WT1

Drugs & Therapeutics for Cerebellar Angioblastoma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067

Search NIH Clinical Center for Cerebellar Angioblastoma

Genetic Tests for Cerebellar Angioblastoma

Anatomical Context for Cerebellar Angioblastoma

MalaCards organs/tissues related to Cerebellar Angioblastoma:

41
Cerebellum, Brain, Ovary, Endothelial, Pituitary, Thyroid, Myeloid

Publications for Cerebellar Angioblastoma

Articles related to Cerebellar Angioblastoma:

# Title Authors Year
1
WT1 microdeletion and slowly progressing focal glomerulosclerosis in a patient with male pseudohermaphroditism, childhood leukemia, Wilms tumor and cerebellar angioblastoma. ( 23618379 )
2013
2
Carotid sinus hypersensitivity as a sign of intracranial disease; case of cerebellar angioblastoma. ( 18149199 )
1949

Variations for Cerebellar Angioblastoma

ClinVar genetic disease variations for Cerebellar Angioblastoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VHL NM_000551.3(VHL): c.263G> C (p.Trp88Ser) single nucleotide variant Pathogenic rs119103277 GRCh37 Chromosome 3, 10183794: 10183794
2 VHL NM_000551.3(VHL): c.263G> C (p.Trp88Ser) single nucleotide variant Pathogenic rs119103277 GRCh38 Chromosome 3, 10142110: 10142110
3 VHL NM_000551.3(VHL): c.405A> C (p.Leu135Phe) single nucleotide variant Pathogenic rs119103278 GRCh37 Chromosome 3, 10188262: 10188262
4 VHL NM_000551.3(VHL): c.405A> C (p.Leu135Phe) single nucleotide variant Pathogenic rs119103278 GRCh38 Chromosome 3, 10146578: 10146578
5 VHL NM_000551.3(VHL): c.194C> T (p.Ser65Leu) single nucleotide variant Pathogenic rs5030826 GRCh38 Chromosome 3, 10142041: 10142041
6 VHL NM_000551.3(VHL): c.194C> T (p.Ser65Leu) single nucleotide variant Pathogenic rs5030826 GRCh37 Chromosome 3, 10183725: 10183725

Expression for Cerebellar Angioblastoma

Search GEO for disease gene expression data for Cerebellar Angioblastoma.

Pathways for Cerebellar Angioblastoma

Pathways related to Cerebellar Angioblastoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.7 TP53 VHL
2 11.43 TP53 WT1
3 10.69 TP53 VHL
4 9.8 TP53 VHL

GO Terms for Cerebellar Angioblastoma

Biological processes related to Cerebellar Angioblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.58 TP53 VHL WT1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.5 TP53 VHL WT1
3 positive regulation of transcription, DNA-templated GO:0045893 9.43 TP53 VHL WT1
4 negative regulation of cell growth GO:0030308 9.37 TP53 WT1
5 negative regulation of apoptotic process GO:0043066 9.33 TP53 VHL WT1
6 negative regulation of cell proliferation GO:0008285 9.13 TP53 VHL WT1
7 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 8.62 TP53 WT1

Molecular functions related to Cerebellar Angioblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 8.96 TP53 WT1
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.62 TP53 WT1

Sources for Cerebellar Angioblastoma

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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