MCID: CRB015
MIFTS: 30

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 71

Classifications:



External Ids:

Disease Ontology 12 DOID:6500
NCIt 49 C5146
UMLS 71 C1332900

Summaries for Cerebellar Angioblastoma

MalaCards based summary : Cerebellar Angioblastoma, also known as hemangioblastoma of cerebellum, is related to foster-kennedy syndrome and cellular congenital mesoblastic nephroma, 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 Carbon metabolism and Transcriptional misregulation in cancer. Affiliated tissues include cerebellum, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Cerebellar Angioblastoma

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

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 foster-kennedy syndrome 10.4 SDHD SDHA
2 cellular congenital mesoblastic nephroma 10.3 NTRK3 ETV6
3 pregnancy adenoma 10.3 NTRK3 ETV6
4 cauda equina neoplasm 10.3 WT1 EWSR1
5 leiomyoma cutis 10.3 SDHD SDHA
6 sarcomatosis 10.3 WT1 EWSR1
7 breast secretory carcinoma 10.3 NTRK3 ETV6
8 adult fibrosarcoma 10.3 NTRK3 ETV6
9 desmoplastic small round cell tumor 10.3 WT1 EWSR1
10 neurofibromatosis, type i 10.2 SDHD PDGFRA
11 epithelioid cell synovial sarcoma 10.2 WT1 EWSR1
12 ring chromosome 10.2 EWSR1 ETV6
13 spastic paraplegia 38, autosomal dominant 10.2 SDHB SDHA
14 hypereosinophilic syndrome, idiopathic 10.2 WT1 PDGFRA
15 hereditary renal cell carcinoma 10.2 SDHB SDHA
16 primary hypereosinophilic syndrome 10.2 PDGFRA ETV6
17 adult mesoblastic nephroma 10.1 WT1 NTRK3 ETV6
18 congenital mesoblastic nephroma 10.1 WT1 NTRK3 ETV6
19 hemangioblastoma 10.1
20 leiomyomatosis 10.1 WT1 VHL SDHB
21 frasier syndrome 10.1
22 wilms tumor 1 10.1
23 wilms tumor 5 10.1
24 hydrocephalus 10.1
25 nephrotic syndrome 10.1
26 allergic hypersensitivity disease 10.1
27 pseudohermaphroditism 10.1
28 childhood leukemia 10.1
29 catecholamine-producing tumor 10.1 VHL SDHD SDHB
30 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.1 PDGFRA ETV6
31 infantile myofibromatosis 10.1 NTRK3 ETV6
32 pediatric fibrosarcoma 10.1 NTRK3 EWSR1 ETV6
33 congenital fibrosarcoma 10.1 NTRK3 EWSR1 ETV6
34 multiple mucosal neuroma 10.1 MEN1 CALCA
35 pancreatic cholera 10.0 MEN1 CALCA
36 renal cell carcinoma, papillary, 1 10.0 WT1 VHL SDHB
37 extracranial neuroblastoma 10.0 SDHD SDHB EWSR1
38 pleomorphic liposarcoma 10.0 PDGFRA EWSR1
39 polycythemia 10.0
40 chronic eosinophilic leukemia 10.0 WT1 PDGFRA ETV6
41 uterus leiomyosarcoma 9.9 PDGFRA CALCA
42 rhabdoid cancer 9.9 WT1 EWSR1
43 muscle cancer 9.9 WT1 PDGFRA EWSR1
44 mesenchymal cell neoplasm 9.9 PDGFRA NTRK3 EWSR1
45 kearns-sayre syndrome 9.9 SDHD SDHB SDHA
46 adrenal carcinoma 9.9 SDHD SDHB MEN1
47 autonomic nervous system benign neoplasm 9.9 SDHD SDHB CALCA
48 peripheral nervous system benign neoplasm 9.9 SDHD SDHB CALCA
49 thyroid carcinoma, familial medullary 9.9 VHL MEN1 CALCA
50 kidney clear cell sarcoma 9.9 WT1 NTRK3 EWSR1 ETV6

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 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.78 EWSR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.78 MEN1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.78 MEN1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.78 EWSR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.78 MEN1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.78 SDHC
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.78 EWSR1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.78 EWSR1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.78 EWSR1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.78 EWSR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.78 EWSR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.78 SDHD
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.78 MEN1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.78 SDHC SDHD
15 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.78 EWSR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.78 SDHC
17 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.78 EWSR1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.78 MEN1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.78 MEN1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.78 MEN1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.78 EWSR1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.78 SDHC
23 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.78 EWSR1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.78 EWSR1 MEN1 SDHC SDHD
25 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.78 EWSR1
26 Decreased sensitivity to paclitaxel GR00112-A-0 8.96 VHL WT1

MGI Mouse Phenotypes related to Cerebellar Angioblastoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 ETV6 MEN1 NTRK3 PDGFRA SDHA SDHD
2 homeostasis/metabolism MP:0005376 9.96 ETV6 MEN1 PDGFRA SDHA SDHB SDHC
3 endocrine/exocrine gland MP:0005379 9.91 ETV6 MEN1 PDGFRA SDHB SDHD VHL
4 mortality/aging MP:0010768 9.85 ETV6 MEN1 NTRK3 PDGFRA SDHA SDHB
5 neoplasm MP:0002006 9.5 ETV6 MEN1 PDGFRA SDHB SDHD VHL
6 normal MP:0002873 9.17 ETV6 NTRK3 PDGFRA SDHB SDHD VHL

Drugs & Therapeutics for Cerebellar Angioblastoma

Search Clinical Trials , NIH Clinical Center for Cerebellar Angioblastoma

Genetic Tests for Cerebellar Angioblastoma

Anatomical Context for Cerebellar Angioblastoma

MalaCards organs/tissues related to Cerebellar Angioblastoma:

40
Cerebellum

Publications for Cerebellar Angioblastoma

Articles related to Cerebellar Angioblastoma:

(show all 12)
# Title Authors PMID Year
1
Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan. 6
8634692 1995
2
Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene. 6
7784063 1995
3
Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas. 6
8069849 1994
4
WT1 microdeletion and slowly progressing focal glomerulosclerosis in a patient with male pseudohermaphroditism, childhood leukemia, Wilms tumor and cerebellar angioblastoma. 61
23618379 2013
5
Disease latency in Creutzfeldt-Jakob disease via dural grafting: a case report. 61
12380713 2001
6
[Cerebellar angioblastoma in childhood]. 61
6395070 1984
7
Immunoelectrophoresis in the diagnosis of neuroectodermal and mesodermal intracranial tumours, especially those of the posterior fossa. 61
574708 1979
8
[Hemangioblastoma of cerebellum with erythrocytosis. A case report (author's transl)]. 61
4807609 1973
9
[Cerebellar angioblastoma (Lindau-neoplasm) and the v. Hippel-Lindau Syndrome]. 61
5012533 1972
10
[Vertebral arteriography and the blood picture as diagnostic aid in cerebellar angioblastoma]. 61
13235957 1954
11
Hemangioblastoma of cerebellum with polycythemia; case report. 61
14851020 1951
12
Carotid sinus hypersensitivity as a sign of intracranial disease; case of cerebellar angioblastoma. 61
18149199 1949

Variations for Cerebellar Angioblastoma

ClinVar genetic disease variations for Cerebellar Angioblastoma:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VHL NM_000551.3(VHL):c.263G>C (p.Trp88Ser)SNV Pathogenic 2220 rs119103277 3:10183794-10183794 3:10142110-10142110
2 VHL NM_198156.3(VHL):c.341-3209A>CSNV Pathogenic 2221 rs119103278 3:10188262-10188262 3:10146578-10146578
3 VHL NM_001354723.2(VHL):c.*84_*90deldeletion Pathogenic 694389 3:10191534-10191540 3:10149850-10149856
4 VHL NM_000551.3(VHL):c.194C>T (p.Ser65Leu)SNV Pathogenic 182975 rs5030826 3:10183725-10183725 3:10142041-10142041

Expression for Cerebellar Angioblastoma

Search GEO for disease gene expression data for Cerebellar Angioblastoma.

Pathways for Cerebellar Angioblastoma

GO Terms for Cerebellar Angioblastoma

Cellular components related to Cerebellar Angioblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.63 VHL TCHP SDHD SDHC SDHB SDHA
2 mitochondrial inner membrane GO:0005743 9.56 SDHD SDHC SDHB SDHA
3 respiratory chain complex II GO:0045273 8.96 SDHC SDHB
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHD SDHC SDHB SDHA

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

# Name GO ID Score Top Affiliating Genes
1 aerobic respiration GO:0009060 9.46 SDHC SDHB
2 adrenal gland development GO:0030325 9.43 WT1 PDGFRA
3 electron transport chain GO:0022900 9.43 SDHC SDHB SDHA
4 male genitalia development GO:0030539 9.4 WT1 PDGFRA
5 respiratory electron transport chain GO:0022904 9.37 SDHB SDHA
6 positive regulation of phospholipase C activity GO:0010863 9.32 PDGFRA NTRK3
7 succinate metabolic process GO:0006105 9.16 SDHB SDHA
8 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.13 SDHD SDHC SDHA
9 tricarboxylic acid cycle GO:0006099 8.92 SDHD SDHC SDHB SDHA

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.46 SDHD SDHC SDHB SDHA
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 SDHC SDHA
3 ubiquinone binding GO:0048039 9.26 SDHD SDHB
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.13 SDHD SDHB SDHA
5 succinate dehydrogenase activity GO:0000104 8.8 SDHD SDHC SDHA

Sources for Cerebellar Angioblastoma

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
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