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 70

Classifications:



External Ids:

Disease Ontology 12 DOID:6500
NCIt 50 C5146
UMLS 70 C1332900

Summaries for Cerebellar Angioblastoma

MalaCards based summary : Cerebellar Angioblastoma, also known as hemangioblastoma of cerebellum, is related to endolymphatic sac tumor and congenital myasthenic syndrome with episodic apnea, and has symptoms including cerebellar ataxia An important gene associated with Cerebellar Angioblastoma is LOC107303340 (3p25 Von Hippel-Lindau Tumor Suppressor, E3 Ubiquitin Protein Ligase Alu-Mediated Recombination Region), 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 118)
# Related Disease Score Top Affiliating Genes
1 endolymphatic sac tumor 10.3 VHL LOC107303340
2 congenital myasthenic syndrome with episodic apnea 10.3 VHL LOC107303340
3 angiomatosis 10.3 VHL LOC107303340
4 retinal hemangioblastoma 10.3 VHL LOC107303340
5 dermis tumor 10.3 SDHD SDHA
6 plethora of newborn 10.2 SDHD SDHB
7 b-lymphoblastic leukemia/lymphoma with hypodiploidy 10.2 SDHA ETV6
8 cauda equina neoplasm 10.2 WT1 EWSR1
9 cellular congenital mesoblastic nephroma 10.2 NTRK3 ETV6
10 adult fibrosarcoma 10.2 NTRK3 ETV6
11 sarcomatosis 10.2 WT1 EWSR1
12 breast secretory carcinoma 10.2 NTRK3 ETV6
13 breast adenoid cystic carcinoma 10.2 NTRK3 ETV6
14 lipid-rich carcinoma 10.2 NTRK3 ETV6
15 mammary analogue secretory carcinoma 10.2 NTRK3 ETV6
16 mixed phenotype acute leukemia 10.2 WT1 VHL LOC107303340
17 middle ear carcinoma 10.2 WT1 EWSR1
18 spastic paraplegia 38, autosomal dominant 10.2 SDHB SDHA
19 colon leiomyosarcoma 10.2 WT1 PDGFRA
20 epithelioid cell synovial sarcoma 10.2 WT1 EWSR1
21 cranial nerve palsy 10.2 SDHD SDHB
22 46,xy sex reversal 9 10.2 WT1 SDHB
23 hypereosinophilic syndrome, idiopathic 10.2 WT1 PDGFRA
24 hereditary renal cell carcinoma 10.1 SDHB SDHA
25 primary hypereosinophilic syndrome 10.1 PDGFRA ETV6
26 sporadic pheochromocytoma/secreting paraganglioma 10.1 VHL SDHD SDHB
27 hemangioblastoma 10.1
28 ring chromosome 10.1 EWSR1 ETV6
29 leiomyomatosis 10.1 WT1 VHL SDHB
30 kidney cortex disease 10.1 WT1 NTRK3 ETV6
31 kidney benign neoplasm 10.1 WT1 NTRK3 ETV6
32 nephroma 10.1 WT1 NTRK3 ETV6
33 congenital mesoblastic nephroma 10.1 WT1 NTRK3 ETV6
34 myeloid and lymphoid neoplasms associated with pdgfra rearrangement 10.1 PDGFRA ETV6
35 multiple mucosal neuroma 10.1 MEN1 CALCA
36 endocrine pancreas disease 10.1 MEN1 CALCA
37 kidney fibrosarcoma 10.0 NTRK3 EWSR1 ETV6
38 pediatric fibrosarcoma 10.0 NTRK3 EWSR1 ETV6
39 congenital fibrosarcoma 10.0 NTRK3 EWSR1 ETV6
40 erythrocytosis, familial, 2 10.0 VHL LOC107303340
41 pancreatic cholera 10.0 MEN1 CALCA
42 spindle cell sarcoma 10.0 NTRK3 EWSR1 ETV6
43 nail disorder, nonsyndromic congenital, 1 10.0 PDGFRA ETV6
44 pituitary carcinoma 10.0 SDHB MEN1
45 carney complex variant 10.0 SDHD SDHB MEN1
46 renal cell carcinoma, papillary, 1 10.0 WT1 VHL SDHB LOC107303340
47 chronic eosinophilic leukemia 10.0 WT1 PDGFRA ETV6
48 kidney clear cell sarcoma 10.0 NTRK3 EWSR1
49 malignant pheochromocytoma 10.0 VHL SDHB CALCA
50 polycythemia 10.0

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 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.68 SDHC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.68 EWSR1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.68 MEN1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.68 MEN1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.68 SDHC
6 Increased shRNA abundance (Z-score > 2) GR00366-A-141 9.68 SDHD
7 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.68 SDHC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.68 EWSR1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.68 MEN1 SDHC
10 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.68 EWSR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.68 SDHC SDHD
12 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.68 EWSR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.68 SDHC
14 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.68 EWSR1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.68 EWSR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.68 MEN1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.68 SDHC
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.68 SDHC
19 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.68 EWSR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.68 MEN1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.68 EWSR1
22 Decreased sensitivity to paclitaxel GR00112-A-0 8.65 WT1

MGI Mouse Phenotypes related to Cerebellar Angioblastoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.85 ETV6 MEN1 NTRK3 PDGFRA SDHA SDHC
2 neoplasm MP:0002006 9.56 ETV6 MEN1 PDGFRA SDHB SDHC SDHD
3 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:

# 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 Position
1 VHL NM_000551.3(VHL):c.194C>T (p.Ser65Leu) SNV Pathogenic 182975 rs5030826 GRCh37: 3:10183725-10183725
GRCh38: 3:10142041-10142041
2 LOC107303340 , VHL NM_001354723.2(VHL):c.*84_*90del Deletion Pathogenic 694389 rs1575932266 GRCh37: 3:10191534-10191540
GRCh38: 3:10149850-10149856

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:

# 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 tricarboxylic acid cycle GO:0006099 9.26 SDHD SDHC SDHB SDHA
8 succinate metabolic process GO:0006105 9.16 SDHB SDHA
9 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.8 SDHD SDHC SDHA

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 SDHC SDHA
2 ubiquinone binding GO:0048039 9.26 SDHD SDHB
3 electron transfer activity GO:0009055 9.26 SDHD SDHC SDHB SDHA
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.16 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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