MCID: HMN009
MIFTS: 55

Hemangioblastoma

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

Aliases & Classifications for Hemangioblastoma

MalaCards integrated aliases for Hemangioblastoma:

Name: Hemangioblastoma 12 77 54 60 56 45 15 74
Capillary Hemangioblastoma 12 54

Characteristics:

Orphanet epidemiological data:

60
hemangioblastoma
Age of onset: Adult;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:5241
MeSH 45 D018325
NCIt 51 C3801
SNOMED-CT 69 81201000
ICD10 via Orphanet 35 D33.4 D33.7
UMLS via Orphanet 75 C0206734
Orphanet 60 ORPHA252054
UMLS 74 C0206734

Summaries for Hemangioblastoma

NIH Rare Diseases : 54 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 von hippel-lindau syndrome and retinal hemangioblastoma. 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 vertigo

Wikipedia : 77 Hemangioblastomas or haemangioblastomas are tumors of the central nervous system that originate from the... more...

Related Diseases for Hemangioblastoma

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

(show top 50) (show all 272)
# Related Disease Score Top Affiliating Genes
1 von hippel-lindau syndrome 33.1 INHA VEGFA VHL
2 retinal hemangioblastoma 32.8 ENO2 PAX2 PAX8 VEGFA VHL
3 benign ependymoma 30.7 ENO2 GFAP SYP
4 polycythemia 30.6 EPO EPOR VHL
5 obstructive hydrocephalus 30.4 GFAP SYP
6 subependymoma 30.1 ENO2 GFAP SYP
7 meningioma, familial 30.1 ENO2 GFAP SYP VEGFA
8 neurilemmoma 30.1 ENO2 EZR GFAP S100B
9 ependymoma 30.0 ENO2 GFAP MUC1 S100B SYP
10 acquired polycythemia 29.9 EPO EPOR
11 clear cell ependymoma 29.8 ENO2 GFAP MUC1 SYP
12 hemangioma 29.8 ENO2 SLC2A1 SYP VEGFA VHL
13 papilloma of choroid plexus 29.8 GFAP MUC1 S100B SYP
14 capillary hemangioma 29.8 SLC2A1 VEGFA VHL
15 chordoma 29.7 GFAP MUC1 S100B
16 cystadenoma 29.6 INHA MUC1 SYP VHL
17 oncocytoma 29.5 KRT8 MUC1 SYP
18 renal cell carcinoma, nonpapillary 29.1 KRT8 MUC1 PAX2 PAX8 VEGFA VHL
19 clear cell renal cell carcinoma 28.9 MUC1 PAX2 PAX8 SLC2A1 VEGFA VHL
20 cerebellar angioblastoma 11.6
21 brain stem angioblastoma 11.1
22 carcinoid tumors, intestinal 10.5 ENO2 SYP
23 respiratory system benign neoplasm 10.5 ENO2 SYP
24 autonomic nervous system benign neoplasm 10.5 ENO2 SYP
25 olfactory nerve neoplasm 10.5 ENO2 SYP
26 rhabdoid cancer 10.5 ENO2 SYP
27 angiomyoma 10.5 ENO2 SYP
28 extraosseous chondrosarcoma 10.5 ENO2 SYP
29 cauda equina neoplasm 10.5 ENO2 SYP
30 nodular ganglioneuroblastoma 10.5 ENO2 SYP
31 malignant teratoma 10.5 ENO2 SYP
32 gastric small cell carcinoma 10.5 ENO2 SYP
33 endometrial small cell carcinoma 10.5 ENO2 SYP
34 medulloepithelioma 10.5 GFAP SYP
35 middle cerebral artery infarction 10.5 ENO2 S100B
36 head injury 10.4 ENO2 S100B
37 supratentorial primitive neuroectodermal tumor 10.4 S100B SYP
38 rosette-forming glioneuronal tumor 10.4 S100B SYP
39 carotid body cancer 10.4 ENO2 SYP
40 malignant sertoli cell tumor 10.4 ENO2 SYP
41 desmoplastic infantile ganglioglioma 10.4 GFAP SYP
42 extraventricular neurocytoma 10.4 GFAP SYP
43 urinary bladder small cell neuroendocrine carcinoma 10.4 ENO2 SYP
44 miliary tuberculosis 10.4 ENO2 EPO
45 primitive neuroectodermal tumor of the cervix uteri 10.4 ENO2 GFAP
46 melanotic medulloblastoma 10.4 ENO2 GFAP
47 auditory system cancer 10.4 ENO2 SYP
48 lung combined type small cell carcinoma 10.4 GFAP SYP
49 cellular ependymoma 10.4 GFAP SYP
50 bednar tumor 10.4 ENO2 S100B

Graphical network of the top 20 diseases related to Hemangioblastoma:



Diseases related to Hemangioblastoma

Symptoms & Phenotypes for Hemangioblastoma

Human phenotypes related to Hemangioblastoma:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
2 vertigo 60 33 hallmark (90%) Very frequent (99-80%) HP:0002321
3 retinal capillary hemangioma 60 33 hallmark (90%) Very frequent (99-80%) HP:0009711
4 headache 60 33 hallmark (90%) Very frequent (99-80%) HP:0002315
5 cerebellar hemangioblastoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0006880
6 intracranial cystic lesion 60 33 hallmark (90%) Very frequent (99-80%) HP:0010576
7 cerebellar edema 60 33 hallmark (90%) Very frequent (99-80%) HP:0030915
8 upper limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003484
9 lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0007340
10 neurogenic bladder 60 33 frequent (33%) Frequent (79-30%) HP:0000011
11 trigeminal neuralgia 60 33 frequent (33%) Frequent (79-30%) HP:0100661
12 dysesthesia 60 33 frequent (33%) Frequent (79-30%) HP:0012534
13 spinal hemangioblastoma 60 33 frequent (33%) Frequent (79-30%) HP:0009713
14 hypoactive bowel sounds 60 33 frequent (33%) Frequent (79-30%) HP:0030144
15 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
16 hemangioblastoma 60 Obligate (100%)

MGI Mouse Phenotypes related to Hemangioblastoma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.09 EPO EPOR GFAP INHA KRT8 PAX2
2 cellular MP:0005384 10.06 ENO2 EPO EPOR GFAP PAX2 PAX8
3 growth/size/body region MP:0005378 10.02 ENO2 EPOR EZR GFAP INHA KRT8
4 embryo MP:0005380 9.97 EPO EPOR KRT8 PAX2 PAX8 SLC2A1
5 homeostasis/metabolism MP:0005376 9.96 EPO EPOR GFAP INHA KRT8 PAX8
6 mortality/aging MP:0010768 9.7 EPO EPOR EZR GFAP INHA KRT8
7 liver/biliary system MP:0005370 9.63 EPO EPOR INHA KRT8 VEGFA VHL
8 normal MP:0002873 9.28 EPO EPOR GFAP INHA PAX8 S100B

Drugs & Therapeutics for Hemangioblastoma

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
2
Pancrelipase Approved, Investigational Phase 2 53608-75-6
3
Vatalanib Investigational Phase 2 212141-54-3 151194
4 Protein Kinase Inhibitors Phase 2
5 Cytochrome P-450 CYP3A Inhibitors Phase 2
6 Angiogenesis Modulating Agents Phase 2,Early Phase 1
7 Cytochrome P-450 Enzyme Inhibitors Phase 2
8 Angiogenesis Inhibitors Phase 2,Early Phase 1
9 Cytochrome P-450 CYP3A Inducers Phase 2
10 Radiopharmaceuticals Phase 2
11 Fluorodeoxyglucose F18 Phase 2
12 pancreatin Phase 2
13
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
14 Histone Deacetylase Inhibitors Phase 1
15
Bevacizumab Approved, Investigational ,Early Phase 1 216974-75-3
16 89Zr-bevacizumab
17 Mitogens
18 Antineoplastic Agents, Immunological ,Early Phase 1
19 Endothelial Growth Factors

Interventional clinical trials:

(show all 14)
# 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 Phase II Study of Vandetanib in Individuals With Kidney Cancer Completed NCT00566995 Phase 2 ZACTIMA (Vandetanib) (ZD6474)
4 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
5 TKI 258 in Von Hippel-Lindau Syndrome (VHL) Terminated NCT01266070 Phase 2 Dovitinib
6 Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to Follow Terminated NCT00330564 Phase 2 SU011248
7 Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only) Completed NCT02108002 Phase 1 Vorinostat
8 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
9 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Unknown status NCT02207686
10 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
11 Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
12 Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067
13 Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease Active, not recruiting NCT00005902
14 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:

42
Spinal Cord, Brain, Retina, Cerebellum, Eye, Kidney, Endothelial

Publications for Hemangioblastoma

Articles related to Hemangioblastoma:

(show top 50) (show all 662)
# Title Authors Year
1
Desmoid tumor after resection of cerebellar hemangioblastoma. ( 30816685 )
2019
2
Retromedullary Hemangioblastoma Mimicking a Posterior Inferior Cerebellar Artery Aneurysm: Case Report and Literature Review. ( 30404062 )
2019
3
Disseminated central nervous system hemangioblastoma in a patient with no clinical or genetic evidence of von Hippel-Lindau disease-a case report and literature review. ( 30652202 )
2019
4
Gamma Knife Stereotactic Radiosurgery favorably changes the clinical course of hemangioblastoma growth in von Hippel-Lindau and sporadic patients. ( 30729402 )
2019
5
Resection of a cerebellar hemangioblastoma via a minimally invasive tubular approach. ( 30732985 )
2019
6
Congenital extraneural hemangioblastoma in a lamb. ( 30774021 )
2019
7
Exoscope-Guided (VITOM 3D) Single-Stage Removal of Supratentorial Cavernous Angioma and Hemangioblastoma: 3-Dimensional Operative Video. ( 30848281 )
2019
8
Fully endoscopic minimally-invasive tumor resection for cystic cerebellar hemangioblastoma: Technical Note. ( 30922906 )
2019
9
Hemangioblastoma of the Cerebral Aqueduct Removed via a Sitting, Supracerebellar Intracollicular Approach. ( 30928590 )
2019
10
The loss of succinate dehydrogenase B expression is frequently identified in hemangioblastoma of the central nervous system. ( 30971719 )
2019
11
68Ga DOTATATE PET/CT Versus 18F-FDG PET/CT for Detecting Intramedullary Hemangioblastoma in a Patient With Von Hippel-Lindau Disease. ( 30985433 )
2019
12
Distal Outflow-related Anterior Inferior Cerebellar Artery Aneurysm in Hemangioblastoma. ( 30986586 )
2019
13
Clinical analysis of syringomyelia resulting from spinal hemangioblastoma in a single series of 38 consecutive patients. ( 30999208 )
2019
14
Retinal capillary hemangioblastoma associated with retinochoroidal coloboma in Von Hippel-Lindau disease. ( 31007244 )
2019
15
Optical coherence tomography angiography in assessment of response to therapy in retinal capillary hemangioblastoma and diffuse choroidal hemangioma. ( 31007251 )
2019
16
Hemangioblastoma of the Central Nervous System: A Case Series of Patients Surgically Treated at Shohada-e-Tajrish Hospital, Tehran, Iran during 2004-2014. ( 31037089 )
2019
17
Optic Nerve Hemangioblastoma: Review. ( 31054346 )
2019
18
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes. ( 29619618 )
2019
19
Resection of a Thoracic Hemangioblastoma in a Patient With Von Hippel-Lindau: 3-Dimensional Operative Video. ( 30010956 )
2019
20
Hemangioblastoma of the optic nerve. ( 30321570 )
2019
21
A Rare Case of Giant Solid Hemangioblastoma Accompanied with Hemophilia Type A. ( 30327750 )
2018
22
A mobile hemangioblastoma of the cauda equina: Case report and review of the literature. ( 30475166 )
2018
23
Spontaneous Arrest of Sporadic Spinal Hemangioblastoma Growth after Postoperative Nodular Recurrence: Case Report. ( 30519519 )
2018
24
Sporadic Hemangioblastoma of the Cavernous Sinus and Meckel's Cave. ( 30574445 )
2018
25
Intramedullary and intratumoral hemorrhage in spinal hemangioblastoma: Case report and review of literature. ( 30603234 )
2018
26
Intermittent Myokymia as a Pointer to Hemangioblastoma of the Cervical Spine: A Case Report. ( 30627100 )
2018
27
Atypical onset of sciatica in a patient with a filum terminale hemangioblastoma. ( 28011175 )
2018
28
THERAPEUTIC OUTCOMES AFTER ENDORESECTION OF COMPLEX RETINAL CAPILLARY HEMANGIOBLASTOMA. ( 28196061 )
2018
29
Cerebellar Hemangioblastoma. ( 28807712 )
2018
30
Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease. ( 28972023 )
2018
31
Sporadic Intradural Extramedullary Hemangioblastoma of the Cauda Equina: Case Report and Literature Review. ( 29107720 )
2018
32
High speed flow cytometry allows the detection of circulating endothelial cells in hemangioblastoma patients. ( 29133210 )
2018
33
Usefulness of 18F-fluorodeoxyglucose-Positron Emission Tomography in Comparison with Methionine-Positron Emission Tomography in Differentiating Solid Hemangioblastoma from Adult Cerebellar Tumors. ( 29162527 )
2018
34
Extraneuraxial Hemangioblastoma: Clinicopathologic Features and Review of the Literature. ( 29189208 )
2018
35
Stereotactic radiosurgery for central nervous system hemangioblastoma: systematic review and meta-analysis. ( 29204841 )
2018
36
Deletion of the von Hippel-Lindau Gene in Hemangioblasts Causes Hemangioblastoma-like Lesions in Murine Retina. ( 29301791 )
2018
37
Sporadic hemangioblastoma of the film terminale with peritumoral cyst. ( 29399374 )
2018
38
Microsurgical Resection of Large Thoracic Intramedullary Hemangioblastoma With Long Segment Syrinx: 3-Dimensional Operative Video. ( 29444282 )
2018
39
Presentation of a Hemangioblastoma in cavernous sinus: An extremely rare case report. ( 29477104 )
2018
40
Histology of hemangioblastoma treated with stereotactic radiosurgery confirms its effectiveness. ( 29483011 )
2018
41
Suprasellar Hemangioblastoma with Reversible Edema-Like Change Along the Optic Tract: A Case Report and Literature Review. ( 29581015 )
2018
42
Cavernous Sinus Aneurysm Associated With Cerebellar Hemangioblastoma in an Adult With von Hippel-Lindau Disease. ( 29608473 )
2018
43
PAX8 Expression Variability in Cerebellar Hemangioblastoma: Case Series and Review of the Literature. ( 29629948 )
2018
44
Microsurgical Resection of Medulla Oblongata Hemangioblastoma: 2-Dimensional Operative Video. ( 29635302 )
2018
45
A Comprehensive Procedure to Evaluate the In Vitro Performance of the Putative Hemangioblastoma Neovascularization Using the Spheroid Sprouting Assay. ( 29708531 )
2018
46
Dorsal hemangioblastoma manifesting as holocord syringomyelia. ( 29721352 )
2018
47
Psychological impact of von Hippel-Lindau genetic screening in patients with a previous history of hemangioblastoma of the central nervous system. ( 29764331 )
2018
48
Solitary retinal hemangioblastoma findings in OCTA pre- and post-laser therapy. ( 29780915 )
2018
49
Comparison of optical coherence tomography angiography and fundus fluorescein angiography features of retinal capillary hemangioblastoma. ( 29786009 )
2018
50
Commentary: Comparison of optical coherence tomography angiography and fundus fluorescein angiography features of retinal capillary hemangioblastoma. ( 29786010 )
2018

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 astrocyte projection GO:0097449 8.96 EZR GFAP
3 cell body GO:0044297 8.8 EPO EZR GFAP

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell shape GO:0008360 9.78 EZR S100B VEGFA
2 regulation of neuronal synaptic plasticity GO:0048168 9.6 S100B SYP
3 urogenital system development GO:0001655 9.59 PAX2 PAX8
4 mesonephros development GO:0001823 9.58 PAX2 PAX8
5 cellular hyperosmotic response GO:0071474 9.58 EPO SLC2A1
6 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.57 PAX2 PAX8
7 pronephros development GO:0048793 9.56 PAX2 PAX8
8 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.55 PAX2 PAX8
9 hemoglobin biosynthetic process GO:0042541 9.54 EPO INHA
10 metanephric epithelium development GO:0072207 9.52 PAX2 PAX8
11 erythropoietin-mediated signaling pathway GO:0038162 9.51 EPO EPOR
12 metanephric distal convoluted tubule development GO:0072221 9.49 PAX2 PAX8
13 metanephric nephron tubule formation GO:0072289 9.48 PAX2 PAX8
14 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.46 PAX2 PAX8
15 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.43 PAX2 PAX8
16 negative regulation of apoptotic process involved in metanephric collecting duct development GO:1900215 9.4 PAX2 PAX8
17 negative regulation of apoptotic process involved in metanephric nephron tubule development GO:1900218 9.37 PAX2 PAX8
18 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis GO:0072305 9.32 PAX2 PAX8
19 positive regulation of metanephric DCT cell differentiation GO:2000594 9.26 PAX2 PAX8
20 pronephric field specification GO:0039003 9.16 PAX2 PAX8
21 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.13 EPO VEGFA VHL
22 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 8.8 PAX2 PAX8 VEGFA

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.8 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 9.16 EZR S100B

Sources for Hemangioblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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