MCID: CRB015
MIFTS: 20

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 74

Classifications:



External Ids:

Disease Ontology 12 DOID:6500
NCIt 51 C5146
UMLS 74 C1332900

Summaries for Cerebellar Angioblastoma

MalaCards based summary : Cerebellar Angioblastoma, also known as hemangioblastoma of cerebellum, is related to wilms tumor 5 and wilms tumor 6, and has symptoms including cerebellar ataxia An important gene associated with Cerebellar Angioblastoma is VHL (Von Hippel-Lindau Tumor Suppressor). Affiliated tissues include cerebellum, and related phenotype is Decreased sensitivity to paclitaxel.

Related Diseases for Cerebellar Angioblastoma

Diseases related to Cerebellar Angioblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 wilms tumor 5 10.1
2 wilms tumor 6 10.1
3 leukemia 10.1
4 pseudohermaphroditism 10.1
5 childhood leukemia 10.1
6 hemangioblastoma 10.0
7 polycythemia 10.0
8 renal cell carcinoma, papillary, 1 9.6 VHL WT1
9 renal cell carcinoma, nonpapillary 9.5 VHL WT1

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased sensitivity to paclitaxel GR00112-A-0 8.62 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:

42
Cerebellum

Publications for Cerebellar Angioblastoma

Articles related to Cerebellar Angioblastoma:

# Title Authors Year
1
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. ( 24493721 )
2014
2
WT1 microdeletion and slowly progressing focal glomerulosclerosis in a patient with male pseudohermaphroditism, childhood leukemia, Wilms tumor and cerebellar angioblastoma. ( 23618379 )
2013
3
Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene. ( 7784063 )
1995
4
Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan. ( 8634692 )
1995
5
Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas. ( 8069849 )
1994
6
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

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 negative regulation of transcription by RNA polymerase II GO:0000122 9.26 VHL WT1
2 positive regulation of transcription, DNA-templated GO:0045893 9.16 VHL WT1
3 negative regulation of apoptotic process GO:0043066 8.96 VHL WT1
4 negative regulation of cell proliferation GO:0008285 8.62 VHL WT1

Sources for Cerebellar Angioblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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