MCID: HMN009
MIFTS: 55

Hemangioblastoma

Categories: Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Hemangioblastoma

MalaCards integrated aliases for Hemangioblastoma:

Name: Hemangioblastoma 12 76 53 59 55 44 15 73
Capillary Hemangioblastoma 12 53

Characteristics:

Orphanet epidemiological data:

59
hemangioblastoma
Age of onset: Adult;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:5241
MeSH 44 D018325
NCIt 50 C3801
SNOMED-CT 68 81201000
Orphanet 59 ORPHA252054
ICD10 via Orphanet 34 D33.4 D33.7
UMLS via Orphanet 74 C0206734
UMLS 73 C0206734

Summaries for Hemangioblastoma

NIH Rare Diseases : 53 A hemangioblastoma is a benign, highly vascular tumor that can occur in the brain, spinal cord, and retina (the light-sensitive tissue that lines the back of the eye). This tumor accounts for about 2% of brain tumors. As it enlarges, it presses on the brain and can cause neurological symptoms, such as headaches, weakness, sensory loss, balance and coordination problems, and/or hydrocephalus (a buildup of spinal fluid in the brain). Most hemangioblastomas occur sporadically. However, some people develop hemangioblastomas as part of a genetic syndrome called von Hippel-Lindau syndrome. These people usually develop multiple tumors within the brain and spinal cord over their lifetime.

MalaCards based summary : Hemangioblastoma, also known as capillary hemangioblastoma, is related to retinal hemangioblastoma and von hippel-lindau syndrome. An important gene associated with Hemangioblastoma is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways are Pathways in cancer and Neuroscience. The drugs Sunitinib and Pancrelipase have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and retina, and related phenotypes are nausea and vomiting and headache

Wikipedia : 76 Hemangioblastomas (or haemangioblastomas, see spelling differences) (capilliary hemangioblastomas) are... more...

Related Diseases for Hemangioblastoma

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

(show top 50) (show all 264)
# Related Disease Score Top Affiliating Genes
1 retinal hemangioblastoma 33.1 ENO2 PAX2 VEGFA VHL
2 von hippel-lindau syndrome 33.0 INHA VEGFA VHL
3 polycythemia 30.4 EPO EPOR VHL
4 obstructive hydrocephalus 30.4 GFAP SYP
5 subependymoma 30.3 ENO2 GFAP SYP
6 pilocytic astrocytoma 30.3 GFAP S100B SYP
7 hydrocephalus 30.2 ENO2 GFAP SYP
8 endolymphatic sac tumor 30.2 KRT8 VHL
9 acquired polycythemia 30.1 EPO EPOR
10 capillary hemangioma 29.5 SLC2A1 VEGFA
11 chordoma 29.1 GFAP MUC1 S100B
12 clear cell ependymoma 29.1 ENO2 GFAP MUC1 SYP
13 papilloma of choroid plexus 28.9 GFAP MUC1 S100B SYP
14 ependymoma 28.9 ENO2 GFAP MUC1 S100B SYP
15 oncocytoma 28.6 KRT8 MUC1 SYP
16 clear cell renal cell carcinoma 28.3 INHA MUC1 SLC2A1 VEGFA VHL
17 renal cell carcinoma, nonpapillary 28.2 KRT8 MUC1 PAX2 VEGFA VHL
18 angiomatosis 11.3
19 cerebellar angioblastoma 11.1
20 brain stem angioblastoma 10.9
21 ureter small cell carcinoma 10.9 ENO2 SYP
22 primitive neuroectodermal tumor of the cervix uteri 10.9 ENO2 GFAP
23 malignant sertoli cell tumor 10.9 ENO2 SYP
24 melanotic medulloblastoma 10.9 ENO2 GFAP
25 urinary bladder small cell neuroendocrine carcinoma 10.9 ENO2 SYP
26 desmoplastic infantile ganglioglioma 10.9 GFAP SYP
27 extraventricular neurocytoma 10.9 GFAP SYP
28 auditory system cancer 10.9 ENO2 SYP
29 sensory organ benign neoplasm 10.9 ENO2 SYP
30 lung combined type small cell carcinoma 10.8 GFAP SYP
31 gallbladder small cell carcinoma 10.8 ENO2 SYP
32 pancreatic somatostatinoma 10.8 ENO2 SYP
33 cerebellar medulloblastoma 10.8 ENO2 GFAP
34 cutaneous ganglioneuroma 10.8 ENO2 SYP
35 extrahepatic bile duct adenocarcinoma 10.8 ENO2 SYP
36 small cell carcinoma of the bladder 10.8 ENO2 SYP
37 cellular ependymoma 10.8 GFAP SYP
38 orbital cancer 10.8 ENO2 SYP
39 ovarian carcinosarcoma 10.8 ENO2 SYP
40 gangliocytoma 10.8 GFAP SYP
41 bednar tumor 10.8 ENO2 S100B
42 pulmonary large cell neuroendocrine carcinoma 10.8 ENO2 SYP
43 rhabdoid meningioma 10.8 GFAP SYP
44 atypical follicular adenoma 10.8 ENO2 SYP
45 cerebellum cancer 10.8 ENO2 SYP
46 pilomyxoid astrocytoma 10.8 GFAP SYP
47 olfactory nerve neoplasm 10.8 ENO2 SYP
48 cauda equina neoplasm 10.8 ENO2 SYP
49 gemistocytic astrocytoma 10.8 GFAP S100B
50 chiari malformation 10.8 GFAP SYP

Graphical network of the top 20 diseases related to Hemangioblastoma:



Diseases related to Hemangioblastoma

Symptoms & Phenotypes for Hemangioblastoma

Human phenotypes related to Hemangioblastoma:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
2 headache 59 32 hallmark (90%) Very frequent (99-80%) HP:0002315
3 vertigo 59 32 hallmark (90%) Very frequent (99-80%) HP:0002321
4 cerebellar hemangioblastoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0006880
5 retinal capillary hemangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0009711
6 intracranial cystic lesion 59 32 hallmark (90%) Very frequent (99-80%) HP:0010576
7 cerebellar edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0030915
8 neurogenic bladder 59 32 frequent (33%) Frequent (79-30%) HP:0000011
9 upper limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003484
10 lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0007340
11 spinal hemangioblastoma 59 32 frequent (33%) Frequent (79-30%) HP:0009713
12 dysesthesia 59 32 frequent (33%) Frequent (79-30%) HP:0012534
13 hypoactive bowel sounds 59 32 frequent (33%) Frequent (79-30%) HP:0030144
14 trigeminal neuralgia 59 32 frequent (33%) Frequent (79-30%) HP:0100661
15 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
16 hemangioblastoma 59 Obligate (100%)

MGI Mouse Phenotypes related to Hemangioblastoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.01 KRT8 EPO PAX2 EPOR VEGFA GFAP
2 growth/size/body region MP:0005378 9.91 VHL INHA ENO2 KRT8 SLC2A1 EPOR
3 embryo MP:0005380 9.87 KRT8 EPO PAX2 EPOR SLC2A1 VEGFA
4 digestive/alimentary MP:0005381 9.85 VHL INHA KRT8 EZR VEGFA GFAP
5 mortality/aging MP:0010768 9.65 INHA KRT8 EPO PAX2 SLC2A1 EPOR
6 liver/biliary system MP:0005370 9.63 KRT8 EPO EPOR VEGFA VHL INHA
7 normal MP:0002873 9.23 EPO EPOR S100B SYP VEGFA GFAP

Drugs & Therapeutics for Hemangioblastoma

Drugs for Hemangioblastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
2
Pancrelipase Approved, Investigational Phase 2 53608-75-6
3
Vatalanib Investigational Phase 2 212141-54-3 151194
4 Fluorodeoxyglucose F18 Phase 2
5 Cytochrome P-450 CYP3A Inducers Phase 2
6 Angiogenesis Inhibitors Phase 2,Early Phase 1
7 Angiogenesis Modulating Agents Phase 2,Early Phase 1
8 Protein Kinase Inhibitors Phase 2
9 Radiopharmaceuticals Phase 2
10 pancreatin Phase 2
11
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
12 Histone Deacetylase Inhibitors Phase 1
13
Bevacizumab Approved, Investigational ,Early Phase 1 216974-75-3
14 Mitogens
15 Endothelial Growth Factors

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584 Completed NCT00052013 Phase 2 PTK787/ZK 222584
2 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2 Sunitinib
3 17AAG to Treat Kidney Tumors in Von Hippel-Lindau Disease Completed NCT00088374 Phase 2 17 allylamino-17-demethoxygeldanamycin;18 FDG (Fludeoxyglucose 18F);[15-O] H2O;EPL diluent
4 TKI 258 in Von Hippel-Lindau Syndrome (VHL) Terminated NCT01266070 Phase 2 Dovitinib
5 Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to Follow Terminated NCT00330564 Phase 2 SU011248
6 Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only) Enrolling by invitation NCT02108002 Phase 1 Vorinostat
7 Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl System Unknown status NCT02120040 Not Applicable
8 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Unknown status NCT02207686
9 Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors Completed NCT00001668
10 Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
11 Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067
12 Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease Active, not recruiting NCT00005902
13 Bevacizumab (Avastin) in Unresectable/Recurrent Hemangioblastoma From Von-Hippel-Lindau Disease Terminated NCT01015300 Early Phase 1 Avastin

Search NIH Clinical Center for Hemangioblastoma

Cochrane evidence based reviews: hemangioblastoma

Genetic Tests for Hemangioblastoma

Anatomical Context for Hemangioblastoma

MalaCards organs/tissues related to Hemangioblastoma:

41
Spinal Cord, Brain, Retina, Cerebellum, Eye, Endothelial, Kidney

Publications for Hemangioblastoma

Articles related to Hemangioblastoma:

(show top 50) (show all 684)
# Title Authors Year
1
Psychological impact of von Hippel-Lindau genetic screening in patients with a previous history of hemangioblastoma of the central nervous system. ( 29764331 )
2018
2
Sporadic hemangioblastoma of the film terminale with peritumoral cyst. ( 29399374 )
2018
3
Treatment of juxtapapillary hemangioblastoma by intra-arterial (ophthalmic artery) chemotherapy with bevacizumab. ( 29978140 )
2018
4
VHL-Associated Optic Nerve Hemangioblastoma Treated with Stereotactic Radiosurgery. ( 29911000 )
2018
5
Intracranial hemangioblastoma - A SEER-based analysis 2004-2013. ( 29963258 )
2018
6
A Comprehensive Procedure to Evaluate the In Vitro Performance of the Putative Hemangioblastoma Neovascularization Using the Spheroid Sprouting Assay. ( 29708531 )
2018
7
Solitary retinal hemangioblastoma findings in OCTA pre- and post-laser therapy. ( 29780915 )
2018
8
Sporadic Intradural Extramedullary Hemangioblastoma of the Cauda Equina: Case Report and Literature Review. ( 29107720 )
2018
9
High speed flow cytometry allows the detection of circulating endothelial cells in hemangioblastoma patients. ( 29133210 )
2018
10
Commentary: Comparison of optical coherence tomography angiography and fundus fluorescein angiography features of retinal capillary hemangioblastoma. ( 29786010 )
2018
11
PAX8 Expression Variability in Cerebellar Hemangioblastoma: Case Series and Review of the Literature. ( 29629948 )
2018
12
Extraneuraxial hemangioblastoma: A clinicopathologic study of 10 cases with molecular analysis of the VHL gene. ( 29941223 )
2018
13
Cavernous Sinus Aneurysm Associated With Cerebellar Hemangioblastoma in an Adult With von Hippel-Lindau Disease. ( 29608473 )
2018
14
Histology of hemangioblastoma treated with stereotactic radiosurgery confirms its effectiveness. ( 29483011 )
2018
15
Suprasellar Hemangioblastoma with Reversible Edema-Like Change Along the Optic Tract: A Case Report and Literature Review. ( 29581015 )
2018
16
Presentation of a Hemangioblastoma in cavernous sinus: An extremely rare case report. ( 29477104 )
2018
17
Microsurgical Resection of Large Thoracic Intramedullary Hemangioblastoma With Long Segment Syrinx: 3-Dimensional Operative Video. ( 29444282 )
2018
18
Microsurgical Resection of Medulla Oblongata Hemangioblastoma: 2-Dimensional Operative Video. ( 29635302 )
2018
19
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes. ( 29619618 )
2018
20
Usefulness of 18F-fluorodeoxyglucose-Positron Emission Tomography in Comparison with Methionine-Positron Emission Tomography in Differentiating Solid Hemangioblastoma from Adult Cerebellar Tumors. ( 29162527 )
2018
21
Deletion of the von Hippel-Lindau gene in hemangioblasts causes hemangioblastoma-like lesions in murine retina. ( 29301791 )
2018
22
Exploring the role of defective fibronectin matrix assembly in the VHL-associated CNS hemangioblastoma. ( 29813026 )
2018
23
Stereotactic radiosurgery for central nervous system hemangioblastoma: systematic review and meta-analysis. ( 29204841 )
2018
24
Comparison of optical coherence tomography angiography and fundus fluorescein angiography features of retinal capillary hemangioblastoma. ( 29786009 )
2018
25
Pregnancy-induced growth of a spinal hemangioblastoma: presumed mechanisms and their implications for therapeutic approaches. ( 29950904 )
2018
26
Dorsal hemangioblastoma manifesting as holocord syringomyelia. ( 29721352 )
2018
27
Microsurgical Resection of Spinal Cord Hemangioblastoma: 2-Dimensional Operative Video. ( 29788139 )
2018
28
Retinal Hemangioblastoma and Syrinx in von Hippel-Lindau Disease. ( 28225727 )
2017
29
Accelerated growth of hemangioblastoma in pregnancy: the role of proangiogenic factors and upregulation of hypoxia-inducible factor (HIF) in a non-oxygen-dependent pathway. ( 29027018 )
2017
30
Hydrocephalus: a rare initial manifestation of sporadic intramedullary hemangioblastoma : Intramedullary hemangioblastoma presenting as hydrocephalus. ( 28444460 )
2017
31
THERAPEUTIC OUTCOMES AFTER ENDORESECTION OF COMPLEX RETINAL CAPILLARY HEMANGIOBLASTOMA. ( 28196061 )
2017
32
Cerebellar Hemangioblastoma. ( 28807712 )
2017
33
Mixed hemangioblastoma and ependymoma collision tumor of the cerebellum. ( 28766496 )
2017
34
Subarachnoid Hemorrhage Associated with Intratumoral Aneurysm Rupture within a Posterior Fossa Hemangioblastoma: The Importance of Continued Surveillance for Cerebral Vasospasm. ( 29075584 )
2017
35
Cerebellar ependymoma with overlapping features of clear-cell and tanycytic variants mimicking hemangioblastoma: a case report and literature review. ( 28320419 )
2017
36
The unexpected finding of a hemangioblastoma on the cerebellum of a patient undergoing treatment with natalizumab for multiple sclerosis. ( 28761632 )
2017
37
Stereotactic radiosurgery versus surgical resection for spinal hemangioblastoma: A systematic review. ( 28129633 )
2017
38
Intraosseous hemangioblastoma of the cervical spine: case report. ( 28665246 )
2017
39
Unusual case of hemangioblastoma of the cerebellopontine angle. ( 29184715 )
2017
40
Hippocampal non-von Hippel-Lindau hemangioblastoma-a rare case. ( 28770392 )
2017
41
Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease. ( 28972023 )
2017
42
Extraneuraxial Hemangioblastoma: Clinicopathologic Features and Review of the Literature. ( 29189208 )
2017
43
Recurrent hemorrhage in hemangioblastoma involving the posterior fossa: Case report. ( 28713626 )
2017
44
Advantage of High b Value Diffusion-Weighted Imaging for Differentiation of Hemangioblastoma from Brain Metastases in Posterior Fossa. ( 28179177 )
2017
45
Systemic Sunitinib Malate Treatment for Advanced Juxtapapillary Retinal Hemangioblastomas Associated with von Hippel-Lindau Disease. ( 28670632 )
2017
46
Added Value of Arterial Spin-Labeling MR Imaging for the Differentiation of Cerebellar Hemangioblastoma from Metastasis. ( 28912280 )
2017
47
Endothelial cells by inactivation of VHL gene direct angiogenesis, not vasculogenesis via Twist1 accumulation associated with hemangioblastoma neovascularization. ( 28710479 )
2017
48
Sporadic Hemangioblastoma Arising from the Infundibulum. ( 29299088 )
2017
49
Sporadic Retroperitoneal Hemangioblastoma: Report of a Case and Review of the Literature. ( 28607790 )
2017
50
Clinicopathological and Genetic Study of an Atypical Renal Hemangioblastoma<sup>a9^</sup>. ( 28956751 )
2017

Variations for Hemangioblastoma

Expression for Hemangioblastoma

Search GEO for disease gene expression data for Hemangioblastoma.

Pathways for Hemangioblastoma

GO Terms for Hemangioblastoma

Cellular components related to Hemangioblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 ENO2 EPO EZR INHA MUC1 S100B
2 myelin sheath GO:0043209 9.43 ENO2 EZR GFAP
3 astrocyte projection GO:0097449 8.96 EZR GFAP
4 cell body GO:0044297 8.8 EPO EZR GFAP

Biological processes related to Hemangioblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cell shape GO:0008360 9.58 EZR S100B VEGFA
2 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.43 EPO VEGFA VHL
3 regulation of neuronal synaptic plasticity GO:0048168 9.37 S100B SYP
4 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.32 PAX2 VEGFA
5 cellular hyperosmotic response GO:0071474 9.16 EPO SLC2A1
6 hemoglobin biosynthetic process GO:0042541 8.96 EPO INHA
7 erythropoietin-mediated signaling pathway GO:0038162 8.62 EPO EPOR

Molecular functions related to Hemangioblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.97 ENO2 EPO EPOR EZR GFAP INHA
2 identical protein binding GO:0042802 9.17 EPOR EZR GFAP S100B SLC2A1 SYP
3 S100 protein binding GO:0044548 8.96 EZR S100B

Sources for Hemangioblastoma

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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