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 pregnancy adenoma, 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 Decreased shRNA abundance (Z-score < -2) and Decreased 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 147)
# Related Disease Score Top Affiliating Genes
1 foster-kennedy syndrome 10.4 SDHD SDHA
2 pregnancy adenoma 10.4 NTRK3 ETV6
3 cellular congenital mesoblastic nephroma 10.4 NTRK3 ETV6
4 cauda equina neoplasm 10.4 WT1 EWSR1
5 adult fibrosarcoma 10.3 NTRK3 ETV6
6 sarcomatosis 10.3 WT1 EWSR1
7 breast secretory carcinoma 10.3 NTRK3 ETV6
8 b-lymphoblastic leukemia/lymphoma with hypodiploidy 10.3 SDHA ETV6
9 lipid-rich carcinoma 10.3 NTRK3 ETV6
10 breast adenoid cystic carcinoma 10.3 NTRK3 ETV6
11 kidney sarcoma 10.3 WT1 EWSR1
12 desmoplastic small round cell tumor 10.3 WT1 EWSR1
13 primary hypereosinophilic syndrome 10.3 PDGFRA ETV6
14 testicular gonadoblastoma 10.3 WT1 KIT
15 middle ear carcinoma 10.3 WT1 EWSR1
16 uterine sarcoma 10.2 WT1 KIT
17 loeffler endocarditis 10.2 PDGFRA ETV6
18 46,xy sex reversal 9 10.2 WT1 SDHB
19 sporadic pheochromocytoma/secreting paraganglioma 10.2 VHL SDHD SDHB
20 ovarian mixed germ cell neoplasm 10.2 WT1 KIT
21 spastic paraplegia 38, autosomal dominant 10.2 SDHB SDHA
22 kidney cortex disease 10.2 WT1 NTRK3 ETV6
23 ring chromosome 10.2 EWSR1 ETV6
24 liver leiomyosarcoma 10.2 WT1 KIT
25 ovarian gonadoblastoma 10.2 WT1 KIT
26 hereditary renal cell carcinoma 10.2 SDHB SDHA
27 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.2 KIT ETV6
28 core binding factor acute myeloid leukemia 10.2 WT1 KIT
29 hemangioblastoma 10.1
30 rare tumor 10.1 KIT EWSR1
31 polymorphous low-grade adenocarcinoma 10.1 NTRK3 KIT
32 frasier syndrome 10.1
33 wilms tumor 1 10.1
34 wilms tumor 5 10.1
35 hydrocephalus 10.1
36 nephrotic syndrome 10.1
37 allergic hypersensitivity disease 10.1
38 pseudohermaphroditism 10.1
39 childhood leukemia 10.1
40 reticular perineurioma 10.1 PDGFRA KIT
41 heart cancer 10.1 WT1 KIT
42 pediatric fibrosarcoma 10.1 NTRK3 EWSR1 ETV6
43 congenital fibrosarcoma 10.1 NTRK3 EWSR1 ETV6
44 small intestinal sarcoma 10.1 PDGFRA KIT
45 deep leiomyoma 10.1 PDGFRA KIT
46 gastric leiomyoma 10.1 PDGFRA KIT
47 thymus clear cell carcinoma 10.1 KIT EWSR1
48 pulmonary vein stenosis 10.1 PDGFRA KIT
49 cebpa-associated familial acute myeloid leukemia 10.1 KIT ETV6
50 laryngeal small cell carcinoma 10.1 PDGFRA KIT

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 top 50) (show all 51)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 10.16 KIT
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.16 NTRK3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 10.16 EWSR1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 10.16 NTRK3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 10.16 EWSR1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-140 10.16 EWSR1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-146 10.16 EWSR1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.16 KIT
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 10.16 KIT
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 10.16 NTRK3
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.16 EWSR1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 10.16 WT1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-35 10.16 WT1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.16 KIT
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 10.16 EWSR1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.16 EWSR1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 10.16 NTRK3
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.16 EWSR1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 10.16 EWSR1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.16 EWSR1
21 Decreased viability GR00173-A 9.89 PDGFRA
22 Decreased viability GR00221-A-1 9.89 KIT PDGFRA SDHD VHL
23 Decreased viability GR00221-A-2 9.89 SDHD VHL
24 Decreased viability GR00221-A-3 9.89 PDGFRA
25 Decreased viability GR00221-A-4 9.89 PDGFRA SDHD
26 Decreased viability GR00249-S 9.89 PDGFRA SDHD VHL
27 Decreased viability GR00301-A 9.89 KIT VHL
28 Decreased viability GR00381-A-1 9.89 SDHD
29 Decreased viability GR00402-S-2 9.89 PDGFRA
30 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.68 SDHC
31 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.68 EWSR1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.68 MEN1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.68 MEN1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.68 SDHC
35 Increased shRNA abundance (Z-score > 2) GR00366-A-141 9.68 SDHD
36 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.68 SDHC
37 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.68 EWSR1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.68 MEN1 SDHC
39 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.68 EWSR1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.68 SDHC SDHD
41 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.68 EWSR1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.68 SDHC
43 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.68 EWSR1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.68 EWSR1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.68 MEN1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.68 SDHC
47 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.68 SDHC
48 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.68 EWSR1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.68 MEN1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.68 EWSR1

MGI Mouse Phenotypes related to Cerebellar Angioblastoma:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.14 ETV6 KIT MEN1 NTRK3 PDGFRA SDHA
2 homeostasis/metabolism MP:0005376 10.11 ETV6 KIT MEN1 PDGFRA SDHA SDHB
3 cardiovascular system MP:0005385 10.1 ETV6 KIT MEN1 NTRK3 PDGFRA SDHD
4 mortality/aging MP:0010768 10.06 ETV6 KIT MEN1 NTRK3 PDGFRA SDHA
5 endocrine/exocrine gland MP:0005379 10.03 ETV6 KIT MEN1 PDGFRA SDHB SDHD
6 embryo MP:0005380 10 ETV6 KIT MEN1 PDGFRA SDHD VHL
7 craniofacial MP:0005382 9.95 KIT MEN1 PDGFRA SDHA TCHP VHL
8 neoplasm MP:0002006 9.81 ETV6 KIT MEN1 PDGFRA SDHB SDHC
9 muscle MP:0005369 9.73 KIT MEN1 PDGFRA SDHC VHL WT1
10 no phenotypic analysis MP:0003012 9.43 ETV6 KIT NTRK3 PDGFRA SDHB WT1
11 normal MP:0002873 9.23 ETV6 KIT NTRK3 PDGFRA SDHB SDHD

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:

# Title Authors PMID Year
1
WT1 microdeletion and slowly progressing focal glomerulosclerosis in a patient with male pseudohermaphroditism, childhood leukemia, Wilms tumor and cerebellar angioblastoma. 61
23618379 2013
2
Disease latency in Creutzfeldt-Jakob disease via dural grafting: a case report. 61
12380713 2001
3
[Cerebellar angioblastoma in childhood]. 61
6395070 1984
4
Immunoelectrophoresis in the diagnosis of neuroectodermal and mesodermal intracranial tumours, especially those of the posterior fossa. 61
574708 1979
5
[Hemangioblastoma of cerebellum with erythrocytosis. A case report (author's transl)]. 61
4807609 1973
6
[Cerebellar angioblastoma (Lindau-neoplasm) and the v. Hippel-Lindau Syndrome]. 61
5012533 1972
7
[Vertebral arteriography and the blood picture as diagnostic aid in cerebellar angioblastoma]. 61
13235957 1954
8
Hemangioblastoma of cerebellum with polycythemia; case report. 61
14851020 1951
9
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_001354723.2(VHL):c.*84_*90deldeletion Pathogenic 694389 3:10191534-10191540 3:10149850-10149856
2 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 9.73 VHL TCHP SDHD SDHC SDHB SDHA
2 mitochondrial inner membrane GO:0005743 9.46 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.65 PDGFRA NTRK3 KIT
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.61 PDGFRA NTRK3 KIT
3 electron transport chain GO:0022900 9.58 SDHC SDHB SDHA
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.54 PDGFRA NTRK3 KIT
5 adrenal gland development GO:0030325 9.51 WT1 PDGFRA
6 positive regulation of kinase activity GO:0033674 9.5 PDGFRA NTRK3 KIT
7 respiratory electron transport chain GO:0022904 9.49 SDHB SDHA
8 male genitalia development GO:0030539 9.46 WT1 PDGFRA
9 positive regulation of phospholipase C activity GO:0010863 9.33 PDGFRA NTRK3 KIT
10 succinate metabolic process GO:0006105 9.26 SDHB SDHA
11 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.13 SDHD SDHC SDHA
12 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 protein tyrosine kinase activity GO:0004713 9.54 PDGFRA NTRK3 KIT
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 PDGFRA NTRK3 KIT
3 ubiquinone binding GO:0048039 9.32 SDHD SDHB
4 electron transfer activity GO:0009055 9.26 SDHD SDHC SDHB SDHA
5 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.16 SDHB SDHA
6 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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