MCID: HMN009
MIFTS: 56

Hemangioblastoma

Categories: Rare diseases, Neuronal diseases, Cardiovascular diseases, Cancer diseases

Aliases & Classifications for Hemangioblastoma

MalaCards integrated aliases for Hemangioblastoma:

Name: Hemangioblastoma 12 72 49 55 51 41 14 69
Capillary Hemangioblastoma 12 49

Characteristics:

Orphanet epidemiological data:

55
hemangioblastoma
Age of onset: Adult;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:5241
MeSH 41 D018325
NCIt 46 C3801
SNOMED-CT 64 81201000
Orphanet 55 ORPHA252054
UMLS via Orphanet 70 C0206734
ICD10 via Orphanet 33 D33.4 D33.7
UMLS 69 C0206734

Summaries for Hemangioblastoma

NIH Rare Diseases : 49 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. Last updated: 7/5/2011

MalaCards based summary : Hemangioblastoma, also known as capillary hemangioblastoma, is related to retinal hemangioblastoma and von hippel-lindau syndrome, and has symptoms including nausea and vomiting, headache and vertigo. 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 cardiovascular system and digestive/alimentary

Wikipedia : 72 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 257)
# Related Disease Score Top Affiliating Genes
1 retinal hemangioblastoma 33.2 ENO2 PAX2 VEGFA VHL
2 von hippel-lindau syndrome 32.9 INHA VEGFA VHL
3 polycythemia 30.3 EPO EPOR VHL
4 hydrocephalus 30.1 ENO2 GFAP SYP
5 obstructive hydrocephalus 30.0 GFAP SYP
6 subependymoma 29.9 ENO2 GFAP SYP
7 endolymphatic sac tumor 29.9 KRT8 VHL
8 astrocytoma 29.6 GFAP S100B SYP VEGFA
9 ependymoma 29.6 GFAP MUC1 S100B SYP
10 capillary hemangioma 29.4 SLC2A1 VEGFA
11 clear cell ependymoma 29.3 ENO2 GFAP MUC1 SYP
12 chordoma 29.2 GFAP MUC1 S100B
13 papilloma of choroid plexus 29.2 GFAP MUC1 S100B SYP
14 renal clear cell carcinoma 29.1 MUC1 VEGFA VHL
15 oncocytoma 28.9 KRT8 MUC1 SYP
16 meningioma, familial 28.7 EZR GFAP MUC1 S100B SLC2A1 SYP
17 renal cell carcinoma, nonpapillary 28.2 ENO2 KRT8 MUC1 PAX2 SLC2A1 VEGFA
18 angiomatosis 11.3
19 cerebellar angioblastoma 11.2
20 brain stem angioblastoma 10.9
21 primitive neuroectodermal tumor of the cervix uteri 10.5 ENO2 GFAP
22 malignant sertoli cell tumor 10.5 ENO2 SYP
23 urinary bladder small cell neuroendocrine carcinoma 10.5 ENO2 SYP
24 melanotic medulloblastoma 10.5 ENO2 GFAP
25 desmoplastic infantile ganglioglioma 10.5 GFAP SYP
26 extraventricular neurocytoma 10.5 GFAP SYP
27 auditory system cancer 10.5 ENO2 SYP
28 cutaneous ganglioneuroma 10.5 ENO2 SYP
29 sensory organ benign neoplasm 10.5 ENO2 SYP
30 lung combined type small cell carcinoma 10.5 GFAP SYP
31 gallbladder small cell carcinoma 10.5 ENO2 SYP
32 pancreatic somatostatinoma 10.5 ENO2 SYP
33 extrahepatic bile duct adenocarcinoma 10.5 ENO2 SYP
34 cerebellar medulloblastoma 10.5 ENO2 GFAP
35 small cell carcinoma of the bladder 10.5 ENO2 SYP
36 cellular ependymoma 10.5 GFAP SYP
37 orbital cancer 10.5 ENO2 SYP
38 ovarian carcinosarcoma 10.5 ENO2 SYP
39 bednar tumor 10.5 ENO2 S100B
40 gangliocytoma 10.5 GFAP SYP
41 rhabdoid meningioma 10.5 GFAP SYP
42 pulmonary large cell neuroendocrine carcinoma 10.5 ENO2 SYP
43 atypical follicular adenoma 10.5 ENO2 SYP
44 pilomyxoid astrocytoma 10.5 GFAP SYP
45 cerebellum cancer 10.5 ENO2 SYP
46 gemistocytic astrocytoma 10.5 GFAP S100B
47 middle cerebral artery infarction 10.5 ENO2 S100B
48 olfactory nerve neoplasm 10.5 ENO2 SYP
49 inflammatory mfh 10.5 EZR GFAP
50 cauda equina neoplasm 10.5 ENO2 SYP

Graphical network of the top 20 diseases related to Hemangioblastoma:



Diseases related to Hemangioblastoma

Symptoms & Phenotypes for Hemangioblastoma

Human phenotypes related to Hemangioblastoma:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 55 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 headache 55 31 hallmark (90%) Very frequent (99-80%) HP:0002315
3 vertigo 55 31 hallmark (90%) Very frequent (99-80%) HP:0002321
4 cerebellar hemangioblastoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0006880
5 retinal capillary hemangioma 55 31 hallmark (90%) Very frequent (99-80%) HP:0009711
6 intracranial cystic lesion 55 31 hallmark (90%) Very frequent (99-80%) HP:0010576
7 cerebellar edema 55 31 hallmark (90%) Very frequent (99-80%) HP:0030915
8 neurogenic bladder 55 31 frequent (33%) Frequent (79-30%) HP:0000011
9 upper limb muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0003484
10 lower limb muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0007340
11 spinal hemangioblastoma 55 31 frequent (33%) Frequent (79-30%) HP:0009713
12 dysesthesia 55 31 frequent (33%) Frequent (79-30%) HP:0012534
13 hypoactive bowel sounds 55 31 frequent (33%) Frequent (79-30%) HP:0030144
14 trigeminal neuralgia 55 31 frequent (33%) Frequent (79-30%) HP:0100661
15 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
16 hemangioblastoma 55 Obligate (100%)

MGI Mouse Phenotypes related to Hemangioblastoma:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 EPO VEGFA EPOR VHL GFAP INHA
2 digestive/alimentary MP:0005381 9.8 VEGFA EZR GFAP VHL INHA KRT8
3 embryo MP:0005380 9.8 VEGFA EPOR VHL KRT8 PAX2 EPO
4 mortality/aging MP:0010768 9.65 SLC2A1 EPO VEGFA EPOR EZR GFAP
5 liver/biliary system MP:0005370 9.63 EPO VEGFA EPOR VHL INHA KRT8
6 normal MP:0002873 9.23 SYP VEGFA EPOR VHL GFAP INHA

Drugs & Therapeutics for Hemangioblastoma

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

(show all 13)
# 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 Cytochrome P-450 CYP3A Inducers Phase 2
5 Angiogenesis Inhibitors Phase 2,Early Phase 1
6 Angiogenesis Modulating Agents Phase 2,Early Phase 1
7 Protein Kinase Inhibitors Phase 2
8 pancreatin Phase 2
9
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
10 Histone Deacetylase Inhibitors Phase 1
11
Bevacizumab Approved, Investigational Early Phase 1 216974-75-3
12 Mitogens
13 Endothelial Growth Factors

Interventional clinical trials:

(show all 11)

# 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 TKI 258 in Von Hippel-Lindau Syndrome (VHL) Terminated NCT01266070 Phase 2 Dovitinib
4 Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to Follow Terminated NCT00330564 Phase 2 SU011248
5 Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only) Enrolling by invitation NCT02108002 Phase 1 Vorinostat
6 Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl System Unknown status NCT02120040
7 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Unknown status NCT02207686
8 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
9 Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
10 Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease Active, not recruiting NCT00005902
11 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:

38
Spinal Cord, Brain, Retina, Cerebellum, Eye, Endothelial, Pituitary

Publications for Hemangioblastoma

Articles related to Hemangioblastoma:

(show top 50) (show all 659)
# Title Authors Year
1
Deletion of the von Hippel-Lindau gene in hemangioblasts causes hemangioblastoma-like lesions in murine retina. ( 29301791 )
2018
2
Stereotactic radiosurgery for central nervous system hemangioblastoma: systematic review and meta-analysis. ( 29204841 )
2018
3
High speed flow cytometry allows the detection of circulating endothelial cells in hemangioblastoma patients. ( 29133210 )
2018
4
Sporadic Intradural Extramedullary Hemangioblastoma of the Cauda Equina: Case Report and Literature Review. ( 29107720 )
2018
5
Usefulness of 18F-fluorodeoxyglucose-Positron Emission Tomography in Comparison with Methionine-Positron Emission Tomography in Differentiating Solid Hemangioblastoma from Adult Cerebellar Tumors. ( 29162527 )
2018
6
Microsurgical Resection of Large Thoracic Intramedullary Hemangioblastoma With Long Segment Syrinx: 3-Dimensional Operative Video. ( 29444282 )
2018
7
Sporadic hemangioblastoma of the film terminale with peritumoral cyst. ( 29399374 )
2018
8
Clinicopathological and Genetic Study of an Atypical Renal Hemangioblastoma<sup>a9^</sup>. ( 28956751 )
2017
9
Cerebellar Hemangioblastoma. ( 28807712 )
2017
10
THERAPEUTIC OUTCOMES AFTER ENDORESECTION OF COMPLEX RETINAL CAPILLARY HEMANGIOBLASTOMA. ( 28196061 )
2017
11
Sporadic Retroperitoneal Hemangioblastoma: Report of a Case and Review of the Literature. ( 28607790 )
2017
12
Recurrent hemorrhage in hemangioblastoma involving the posterior fossa: Case report. ( 28713626 )
2017
13
Mixed hemangioblastoma and ependymoma collision tumor of the cerebellum. ( 28766496 )
2017
14
The unexpected finding of a hemangioblastoma on the cerebellum of a patient undergoing treatment with natalizumab for multiple sclerosis. ( 28761632 )
2017
15
Cerebellar ependymoma with overlapping features of clear-cell and tanycytic variants mimicking hemangioblastoma: a case report and literature review. ( 28320419 )
2017
16
Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease. ( 28972023 )
2017
17
Advantages of using a detachable-tip microcatheter and liquid embolic agents in the preoperative embolization of a recurrent cerebellar hemangioblastoma: A case report. ( 29026675 )
2017
18
Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients. ( 28742274 )
2017
19
Extraneuraxial Hemangioblastoma: Clinicopathologic Features and Review of the Literature. ( 29189208 )
2017
20
Endothelial cells by inactivation of VHL gene direct angiogenesis, not vasculogenesis via Twist1 accumulation associated with hemangioblastoma neovascularization. ( 28710479 )
2017
21
Subarachnoid Hemorrhage Associated with Intratumoral Aneurysm Rupture within a Posterior Fossa Hemangioblastoma: The Importance of Continued Surveillance for Cerebral Vasospasm. ( 29075584 )
2017
22
Image-guided stereotactic radiosurgery for treatment of spinal hemangioblastoma. ( 28041328 )
2017
23
Unusual case of hemangioblastoma of the cerebellopontine angle. ( 29184715 )
2017
24
Added Value of Arterial Spin-Labeling MR Imaging for the Differentiation of Cerebellar Hemangioblastoma from Metastasis. ( 28912280 )
2017
25
Retinal Hemangioblastoma and Syrinx in von Hippel-Lindau Disease. ( 28225727 )
2017
26
Advantage of High b Value Diffusion-Weighted Imaging for Differentiation of Hemangioblastoma from Brain Metastases in Posterior Fossa. ( 28179177 )
2017
27
Sporadic Hemangioblastoma Arising from the Infundibulum. ( 29299088 )
2017
28
Fourth Ventricle Neurenteric Cyst Mimicking Hemangioblastoma. ( 28516079 )
2017
29
Hippocampal non-von Hippel-Lindau hemangioblastoma-a rare case. ( 28770392 )
2017
30
Stereotactic radiosurgery versus surgical resection for spinal hemangioblastoma: A systematic review. ( 28129633 )
2017
31
Intraosseous hemangioblastoma of the cervical spine: case report. ( 28665246 )
2017
32
Cerebellar hemangioblastoma with perivascular pseudorosette formation and glial differentiation: A case report. ( 28217890 )
2017
33
Rapid Worsening of Symptoms and High Cell Proliferative Activity in Intra- and Extramedullary Spinal Hemangioblastoma: A Need for Earlier Surgery. ( 28451503 )
2017
34
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
35
Hydrocephalus: a rare initial manifestation of sporadic intramedullary hemangioblastoma : Intramedullary hemangioblastoma presenting as hydrocephalus. ( 28444460 )
2017
36
Cerebellar hemangioblastoma mimicking an aneurysm: A case report and literature review. ( 27698835 )
2016
37
Study of angiogenic signaling pathways in hemangioblastoma. ( 27388534 )
2016
38
Isolated hemangioblastoma of the cervical spinal cord: A case report and literature review. ( 27424104 )
2016
39
Refractory Orthostatic Hypotension Caused by a Recurrent Hemangioblastoma: Case Report and Review of the Literature. ( 27158570 )
2016
40
Hemangioblastoma located in the posterior incisural space mimicking a tentorial meningioma: a case report. ( 27339157 )
2016
41
Gamma Knife radiosurgery for intracranial hemangioblastoma. ( 27422585 )
2016
42
Delayed presentation of an arteriovenous malformation after cerebellar hemangioblastoma resection-Case report. ( 27086272 )
2016
43
Diagnosis and microsurgical treatment of spinal hemangioblastoma. ( 26908123 )
2016
44
Usefulness of high-resolution 3D multifusion medical imaging for preoperative planning in patients with posterior fossa hemangioblastoma: technical note. ( 27564468 )
2016
45
Relationship between Spinal Hemangioblastoma Location and Age. ( 27114772 )
2016
46
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-I+ binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. ( 27439424 )
2016
47
Magnetic resonance imaging findings in spinal hemangioblastoma case. ( 26892370 )
2016
48
Differences in Multimodality Intraoperative Neurophysiological Monitoring Changes Between Spinal Intramedullary Ependymoma and Hemangioblastoma. ( 26690548 )
2016
49
18F-FDG and 68Ga-DOTATATE PET/CT in von Hippel-Lindau Disease-Associated Retinal Hemangioblastoma. ( 28033220 )
2016
50
Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas. ( 26514359 )
2016

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 9.1 EPOR GFAP S100B SLC2A1 SYP VEGFA
3 S100 protein binding GO:0044548 8.96 EZR S100B

Sources for Hemangioblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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