MCID: HMN009
MIFTS: 53

Hemangioblastoma

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

Aliases & Classifications for Hemangioblastoma

MalaCards integrated aliases for Hemangioblastoma:

Name: Hemangioblastoma 12 75 53 59 55 44 15 72
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
ICD10 via Orphanet 34 D33.4 D33.7
UMLS via Orphanet 73 C0206734
Orphanet 59 ORPHA252054
UMLS 72 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 Bevacizumab and Sunitinib 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 : 75 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 401)
# Related Disease Score Top Affiliating Genes
1 retinal hemangioblastoma 32.5 VHL VEGFA PAX2 HIF1A ENO2
2 von hippel-lindau syndrome 32.5 VHL VEGFA INHA HIF1A
3 obstructive hydrocephalus 31.3 SYP GFAP
4 benign ependymoma 31.2 SYP GFAP ENO2
5 chiari malformation 30.8 SYP GFAP
6 pheochromocytoma 30.7 VHL SYP HIF1A ENO2
7 acquired polycythemia 30.7 EPOR EPO
8 endolymphatic sac tumor 30.7 VHL KRT8
9 extraventricular neurocytoma 30.7 SYP GFAP
10 meningioma, radiation-induced 30.6 S100B MUC1 GFAP EZR
11 paraganglioma 30.6 VHL SYP ENO2
12 cerebellum cancer 30.6 SYP ENO2
13 neurilemmoma 30.5 S100B GFAP EZR ENO2
14 polycythemia 30.4 VHL HIF1A EPOR EPO
15 subependymoma 30.4 SYP GFAP ENO2
16 central neurocytoma 30.4 SYP GFAP ENO2
17 aceruloplasminemia 30.3 SYP SLC2A1 GFAP
18 meningioma, familial 30.3 VEGFA SYP GFAP ENO2
19 cystadenoma 30.2 VHL SYP MUC1 INHA
20 tuberous sclerosis 30.2 VHL SYP S100B GFAP
21 cystic kidney disease 30.1 VHL PAX2 MUC1
22 ependymoma 30.1 SYP S100B MUC1 GFAP ENO2
23 clear cell ependymoma 30.1 SYP MUC1 GFAP ENO2
24 pineocytoma 30.0 SYP S100B GFAP ENO2
25 ganglioglioma 30.0 SYP S100B GFAP ENO2
26 oligodendroglioma 29.9 SYP S100B GFAP ENO2
27 chordoma 29.9 S100B MUC1 GFAP
28 papilloma of choroid plexus 29.8 SYP S100B MUC1 GFAP
29 capillary hemangioma 29.8 VHL VEGFA SLC2A1
30 pancreatic serous cystadenoma 29.7 VHL VEGFA SYP
31 perivascular epithelioid cell tumor 29.6 SYP MUC1
32 supratentorial cancer 29.5 VEGFA SYP GFAP
33 oncocytoma 29.5 SYP MUC1 KRT8
34 hemangioma 29.0 VHL VEGFA SYP SLC2A1 HIF1A ENO2
35 brain cancer 28.7 VEGFA SYP HIF1A GFAP ENO2
36 angiosarcoma 28.7 VEGFA MUC1 KRT8
37 renal cell carcinoma, nonpapillary 28.5 VHL VEGFA PAX2 MUC1 KRT8 HIF1A
38 clear cell renal cell carcinoma 28.3 VHL VEGFA SLC2A1 PAX2 MUC1 HIF1A
39 cerebellar angioblastoma 11.7
40 angiomatosis 11.6
41 brain stem angioblastoma 11.2
42 carotid body cancer 10.7 SYP ENO2
43 primitive neuroectodermal tumor of the cervix uteri 10.7 GFAP ENO2
44 urinary bladder small cell neuroendocrine carcinoma 10.7 SYP ENO2
45 malignant sertoli cell tumor 10.7 SYP ENO2
46 melanotic medulloblastoma 10.7 GFAP ENO2
47 desmoplastic infantile ganglioglioma 10.7 SYP GFAP
48 auditory system cancer 10.7 SYP ENO2
49 lung combined type small cell carcinoma 10.7 SYP GFAP
50 small cell carcinoma of the bladder 10.7 SYP ENO2

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 vertigo 59 32 hallmark (90%) Very frequent (99-80%) HP:0002321
3 retinal capillary hemangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0009711
4 headache 59 32 hallmark (90%) Very frequent (99-80%) HP:0002315
5 intracranial cystic lesion 59 32 hallmark (90%) Very frequent (99-80%) HP:0010576
6 cerebellar hemangioblastoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0006880
7 cerebellar edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0030915
8 upper limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003484
9 lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0007340
10 neurogenic bladder 59 32 frequent (33%) Frequent (79-30%) HP:0000011
11 trigeminal neuralgia 59 32 frequent (33%) Frequent (79-30%) HP:0100661
12 dysesthesia 59 32 frequent (33%) Frequent (79-30%) HP:0012534
13 spinal hemangioblastoma 59 32 frequent (33%) Frequent (79-30%) HP:0009713
14 hypoactive bowel sounds 59 32 frequent (33%) Frequent (79-30%) HP:0030144
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 10.13 EPO EPOR GFAP HIF1A INHA KRT8
2 cellular MP:0005384 10.11 ENO2 EPO EPOR GFAP HIF1A PAX2
3 growth/size/body region MP:0005378 10.07 ENO2 EPOR EZR GFAP HIF1A INHA
4 homeostasis/metabolism MP:0005376 10.02 EPO EPOR GFAP HIF1A INHA KRT8
5 embryo MP:0005380 10.01 EPO EPOR HIF1A KRT8 PAX2 SLC2A1
6 digestive/alimentary MP:0005381 9.98 EZR GFAP HIF1A INHA KRT8 VEGFA
7 immune system MP:0005387 9.91 EPO EPOR EZR GFAP HIF1A INHA
8 liver/biliary system MP:0005370 9.7 EPO EPOR HIF1A INHA KRT8 VEGFA
9 mortality/aging MP:0010768 9.7 EPO EPOR EZR GFAP HIF1A INHA
10 normal MP:0002873 9.28 EPO EPOR GFAP HIF1A INHA S100B

Drugs & Therapeutics for Hemangioblastoma

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 2 216974-75-3
2
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
3
Pancrelipase Approved, Investigational Phase 2 53608-75-6
4
Vatalanib Investigational Phase 2 212141-54-3 151194
5 Cytochrome P-450 CYP3A Inducers Phase 2
6 Cytochrome P-450 CYP3A Inhibitors Phase 2
7 Cytochrome P-450 Enzyme Inhibitors Phase 2
8 Cytochrome P-450 Enzyme Inducers Phase 2
9 Antineoplastic Agents, Immunological Phase 2
10 Antibodies Phase 2
11 Immunoglobulins Phase 2
12 Antibodies, Monoclonal Phase 2
13 Immunologic Factors Phase 2
14 Protein Kinase Inhibitors Phase 2
15 Angiogenesis Inhibitors Phase 2
16 Angiogenesis Modulating Agents Phase 2
17 pancreatin Phase 2
18
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
19 Histone Deacetylase Inhibitors Phase 1
20 89Zr-bevacizumab
21 Mitogens
22 Radiopharmaceuticals
23 Endothelial Growth Factors

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Phase II Open-Label Study of Oral, Continuous, Once Daily PTK787/ZK 222584 in Patients With Von Hippel-Lindau Disease (VHL) and Hemangioblastoma (HB) 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 Trial of Bevacizumab in Patients With Recurrent or Progressive Meningiomas Active, not recruiting NCT01125046 Phase 2
4 A Pilot Trial of TKI 258 (Dovitinib) in Von Hippel-Lindau Syndrome Terminated NCT01266070 Phase 2 Dovitinib
5 A Phase 2 Study of SU011248 (Sunitinib Malate) in Von Hippel-Lindau Syndrome Terminated NCT00330564 Phase 2 SU011248
6 Pilot Study of the Effect of Vorinostat on Nervous System Hemangioblastomas In Von Hippel-Lindau Disease Completed 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
8 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Unknown status NCT02207686
9 Visualizing VEGF Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
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 Non-Invasive Measurement of Absolute Intracranial Pressure in Patients With Mass Effective Brain Tumors Recruiting NCT03641443
12 A Prospective Natural History Study of VHL Patients With CNS Hemangioblastomas Active, not recruiting NCT00005902
13 Drivers of Hypoxia-induced Angiogenesis in Tumor Development Enrolling by invitation NCT03979833
14 D0904 - A Pilot Study of Bevacizumab (Avastin) in Patients With Unresectable or 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, Endothelial, Eye, Medulla Oblongata

Publications for Hemangioblastoma

Articles related to Hemangioblastoma:

(show top 50) (show all 1536)
# Title Authors PMID Year
1
Novel immunohistochemical markers in the diagnosis of nonglial tumors of nervous system. 9 38
20179436 2010
2
Expression of inhibin alpha by stromal cells of retinal angiomas excised from a patient with von Hippel-Lindau disease. 9 38
19847606 2009
3
Immunohistochemical markers to distinguish between hemangioblastoma and metastatic clear-cell renal cell carcinoma in the brain: utility of aquaporin1 combined with cytokeratin AE1/AE3 immunostaining. 9 38
18496143 2008
4
[Intravitreal anti-VEGF therapy for capillary hemangioblastomas in von Hippel-Lindau disease]. 9 38
18401796 2008
5
Atrial myxoma occurring 15 years after subtotal resection of cerebellar hemangioblastoma. 9 38
18219192 2008
6
Etiologic impact of known cancer susceptibility genes. 9 38
17827054 2008
7
Endolymphatic sac tumor (aggressive papillary tumor of middle ear and temporal bone): report of two cases with analysis of the VHL gene. 9 38
18423895 2008
8
Internal en bloc resection and genetic analysis of retinal capillary hemangioblastoma. 9 38
17846357 2007
9
New immunohistochemical markers in the evaluation of central nervous system tumors: a review of 7 selected adult and pediatric brain tumors. 9 38
17284108 2007
10
Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. 9 38
17070589 2007
11
Molecular pathology of eyes with von Hippel-Lindau (VHL) Disease: a review. 9 38
17218907 2007
12
[Immunohistochemical study is helpful for the diagnosis of cerebellar clear cell ependymoma with atypical radiological findings--case report]. 9 38
16277226 2005
13
Expression of stem cells markers in ocular hemangioblastoma associated with von Hippel-Lindau (VHL) disease. 9 38
16163267 2005
14
Immunoreactivity of CD10 and inhibin alpha in differentiating hemangioblastoma of central nervous system from metastatic clear cell renal cell carcinoma. 9 38
15578072 2005
15
The von Hippel-Lindau tumor suppressor protein: roles in cancer and oxygen sensing. 9 38
16869749 2005
16
Role of VHL gene mutation in human cancer. 9 38
15611513 2004
17
Inhibin alpha distinguishes hemangioblastoma from clear cell renal cell carcinoma. 9 38
12883249 2003
18
Rapid and durable recovery of visual function in a patient with von hippel-lindau syndrome after systemic therapy with vascular endothelial growth factor receptor inhibitor su5416. 9 38
12208726 2002
19
Metastasis of renal cell carcinoma to central nervous system hemangioblastoma in two patients with von Hippel-Lindau disease. 9 38
11844068 2001
20
von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. 9 38
11331612 2001
21
GLUT1 immunoreaction patterns reliably distinguish hemangioblastoma from metastatic renal cell carcinoma. 9 38
14606586 2000
22
Transthyretin and transferrin in hemangioblastoma stromal cells. 9 38
11087054 2000
23
Coexpression of erythropoietin and vascular endothelial growth factor in nervous system tumors associated with von Hippel-Lindau tumor suppressor gene loss of function. 9 38
9787178 1998
24
Expression of vascular endothelial growth factor in von Hippel-Lindau syndrome-associated papillary cystadenoma of the epididymis. 9 38
9824115 1998
25
Loss of heterozygosity and somatic mutations of the VHL tumor suppressor gene in sporadic cerebellar hemangioblastomas. 9 38
9458097 1998
26
Human telomerase RNA expression and MIB-1 (Ki-67) proliferation index distinguish hemangioblastomas from metastatic renal cell carcinomas. 9 38
9413283 1997
27
Site-directed deletion of a 10-nucleotide domain of the 3'-untranslated region of the GLUT1 glucose transporter mRNA eliminates cytosolic protein binding in human brain tumors and induction of reporter gene expression. 9 38
9166756 1997
28
Differential expression in glioblastoma multiforme and cerebral hemangioblastoma of cytoplasmic proteins that bind two different domains within the 3'-untranslated region of the human glucose transporter 1 (GLUT1) messenger RNA. 9 38
8675694 1996
29
Expression of growth factors and growth factor receptors in capillary hemangioblastoma. 9 38
8627342 1996
30
Vascular growth factors and receptors in capillary hemangioblastomas and hemangiopericytomas. 9 38
8774132 1996
31
Ezrin expression in stromal cells of capillary hemangioblastoma. An immunohistochemical survey of brain tumors. 9 38
8579099 1996
32
High expression of the Glut1 glucose transporter in human brain hemangioblastoma endothelium. 9 38
7595657 1995
33
Inhibition of transcription elongation by the VHL tumor suppressor protein. 9 38
7660122 1995
34
Von Hippel-Lindau syndrome. 9 38
7670659 1995
35
Up-regulation of vascular endothelial growth factor and its receptors in von Hippel-Lindau disease-associated and sporadic hemangioblastomas. 9 38
7533661 1995
36
Hormone conference at Sahlgren's University Hospital: polycythemia and inappropriately high serum erythropoietin concentration in a 62-year-old man. 9 38
7955385 1994
37
Expression of vascular endothelial growth factor in capillary hemangioblastoma. 9 38
7688226 1993
38
[A comparative study of "angioblastic meningioma", hemangiopericytoma and cerebellar hemangioblastoma]. 9 38
8340101 1993
39
Von Hippel-Lindau disease and erythrocytosis: radioimmunoassay of erythropoietin in cyst fluid from a brainstem hemangioblastoma. 9 38
2027498 1991
40
Dural-Based Frontal Lobe Hemangioblastoma. 38
31150863 2019
41
Renal Cell Carcinoma With Hemangioma-Like Features: Diagnostic Implications and Review of the Literature. 38
30955392 2019
42
Intramedullary Thoracic Meningioma: A Rare Case Report and Review of the Literature. 38
31146040 2019
43
Classification and treatment follow-up of a juxtapapillary retinal hemangioblastoma with optical coherence tomography angiography. 38
31198883 2019
44
Minimally invasive resection of spinal hemangioblastoma: feasibility and clinical results in a series of 18 patients. 38
31398701 2019
45
Growth rate and fate of untreated hemangioblastomas: clinical assessment of the experience of a single institution. 38
31201685 2019
46
[The application of hybrid operation suite in the management of cerebral and spinal vascular diseases and intracranial hypervascular tumors]. 38
31422631 2019
47
Spinal Versus Intracranial Meningioma: Aberrant Expression of CD10 and Inhibin with Relation to Clinicopathological Features and Prognosis. 38
31372897 2019
48
Ovarian Steroid Cell Tumor in an Adolescent With Von Hippel-Lindau Syndrome: A Case Report and Review of the Literature. 38
31433374 2019
49
Spontaneous massive intracystic hemorrhage due to cystic hemangioblastoma in a pediatric patient. 38
31290349 2019
50
Distal Outflow-Related Anterior Inferior Cerebellar Artery Aneurysm in Hemangioblastoma. 38
30986586 2019

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 VEGFA S100B MUC1 INHA EZR EPO
2 astrocyte projection GO:0097449 8.96 GFAP EZR
3 cell body GO:0044297 8.8 GFAP EZR EPO

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.8 VHL VEGFA PAX2 HIF1A EPO
2 regulation of cell shape GO:0008360 9.74 VEGFA S100B EZR
3 cytokine-mediated signaling pathway GO:0019221 9.73 VEGFA MUC1 HIF1A EPOR
4 cellular response to hypoxia GO:0071456 9.63 VEGFA S100B HIF1A
5 positive regulation of neuroblast proliferation GO:0002052 9.56 VEGFA HIF1A
6 response to hypoxia GO:0001666 9.56 VEGFA SLC2A1 HIF1A EPO
7 dopaminergic neuron differentiation GO:0071542 9.55 VEGFA HIF1A
8 camera-type eye morphogenesis GO:0048593 9.54 VEGFA HIF1A
9 negative regulation of reactive oxygen species metabolic process GO:2000378 9.52 PAX2 HIF1A
10 regulation of neuronal synaptic plasticity GO:0048168 9.51 SYP S100B
11 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.49 VEGFA HIF1A
12 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.48 VEGFA PAX2
13 cellular hyperosmotic response GO:0071474 9.37 SLC2A1 EPO
14 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.32 VEGFA HIF1A
15 erythropoietin-mediated signaling pathway GO:0038162 9.16 EPOR EPO
16 hemoglobin biosynthetic process GO:0042541 9.13 INHA HIF1A EPO
17 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 8.92 VHL VEGFA HIF1A EPO

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 VHL VEGFA SLC2A1 S100B PAX2 MUC1
2 identical protein binding GO:0042802 9.17 VEGFA SYP SLC2A1 S100B GFAP EZR
3 S100 protein binding GO:0044548 9.16 S100B EZR

Sources for Hemangioblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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