MCID: HMN009
MIFTS: 45

Hemangioblastoma malady

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

Aliases & Classifications for Hemangioblastoma

Aliases & Descriptions for Hemangioblastoma:

Name: Hemangioblastoma 12 50 56 52 42 14 69
Capillary Hemangioblastoma 12 50

Characteristics:

Orphanet epidemiological data:

56
hemangioblastoma
Age of onset: Adult;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:5241
MeSH 42 D018325
NCIt 47 C3801
SNOMED-CT 64 81201000
Orphanet 56 ORPHA252054
ICD10 via Orphanet 34 D33.4 D33.7
UMLS via Orphanet 70 C0206734
UMLS 69 C0206734

Summaries for Hemangioblastoma

NIH Rare Diseases : 50 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 pilocytic astrocytoma and clear cell ependymoma. An important gene associated with Hemangioblastoma is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways are Neuroscience and HIF-1-alpha transcription factor network. 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 : 71 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 213)
id Related Disease Score Top Affiliating Genes
1 pilocytic astrocytoma 29.6 GFAP SYP
2 clear cell ependymoma 29.5 MUC1 S100B
3 retinal hemangioblastoma 12.0
4 von hippel-lindau syndrome 11.6
5 angiomatosis 11.1
6 cerebellar angioblastoma 11.0
7 brain stem angioblastoma 10.8
8 lymphatic system disease 10.3 ENO2 VEGFA
9 infiltrating renal pelvis transitional cell carcinoma 10.3 ENO2 SYP
10 thymus small cell carcinoma 10.3 ENO2 SYP
11 diabetes hypogonadism deafness mental retardation 10.3 GFAP SYP
12 papillary tumor of the pineal region 10.3 GFAP SYP
13 hyperinsulinism 10.3 GFAP VEGFA
14 thrombophlebitis 10.3 ENO2 GFAP
15 brain stem ependymoma 10.3 GFAP SYP
16 intrahepatic bile duct adenoma 10.3 GFAP SYP
17 glomus tumor 10.3 ENO2 SYP
18 pilocytic astrocytoma of cerebellum 10.3 GFAP SYP
19 children's interstitial lung disease 10.3 GFAP SYP
20 pemphigus foliaceus 10.3 ENO2 SYP
21 benign schwannoma 10.2 ENO2 S100B
22 spasmodic dysphonia 10.2 ENO2 SYP
23 cervical benign neoplasm 10.2 GFAP SYP
24 myxopapillary ependymoma 10.2 GFAP SYP
25 bronchial mucus gland adenoma 10.2 GFAP S100B
26 erythrocytosis, familial, 2 10.2 INHA VEGFA VHL
27 ampullary signet ring cell adenocarcinoma 10.2 ENO2 SYP
28 epidermal appendage tumor 10.2 GFAP SYP
29 main bronchus cancer 10.2 SYP VEGFA VHL
30 thymic dysplasia 10.2 INHA MUC1
31 blood protein disease 10.2 EZR GFAP
32 jejunal neuroendocrine tumor 10.2 S100B SYP
33 maxillary neoplasm 10.2 ENO2 GFAP VEGFA
34 clear cell meningioma 10.2 GFAP SYP
35 growth retardation hydrocephaly lung hypoplasia 10.2 ENO2 INHA SYP
36 retinitis 10.2
37 zollinger-ellison syndrome 10.2 ENO2 SYP VHL
38 perineural angioma 10.2 ENO2 SYP
39 cardioauditory syndrome of sanchez cascos 10.2 ENO2 SYP VEGFA
40 vagina leiomyosarcoma 10.2 GFAP MUC1
41 mucinous cystadenocarcinoma 10.2 INHA MUC1
42 brucella canis brucellosis 10.2 ENO2 SYP VEGFA
43 nephrogenic adenoma of urinary bladder 10.2 ENO2 GFAP SYP
44 blood group incompatibility 10.2 ENO2 GFAP SYP
45 superior vena cava syndrome 10.2 ENO2 GFAP SYP
46 lucey-driscoll syndrome 10.2 MUC1 S100B
47 secondary pulmonary hemosiderosis 10.2 MUC1 S100B
48 childhood central nervous system primitive neuroectodermal neoplasm 10.2 ENO2 GFAP SYP
49 clear cell variant infiltrating bladder urothelial carcinoma 10.2 ENO2 GFAP SYP
50 myoepithelial carcinoma 10.2 ENO2 GFAP SYP

Graphical network of the top 20 diseases related to Hemangioblastoma:



Diseases related to Hemangioblastoma

Symptoms & Phenotypes for Hemangioblastoma

MGI Mouse Phenotypes related to Hemangioblastoma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 EPO EPOR GFAP INHA KRT8 PAX2
2 digestive/alimentary MP:0005381 9.8 EZR GFAP INHA KRT8 VEGFA VHL
3 embryo MP:0005380 9.8 EPO EPOR KRT8 PAX2 SLC2A1 VEGFA
4 mortality/aging MP:0010768 9.65 GFAP INHA KRT8 PAX2 SLC2A1 VEGFA
5 liver/biliary system MP:0005370 9.63 EPO EPOR INHA KRT8 VEGFA VHL
6 normal MP:0002873 9.23 S100B SYP VEGFA VHL EPO EPOR

Drugs & Therapeutics for Hemangioblastoma

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

(show all 13)
id 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 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)
id Name Status NCT ID Phase
1 Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584 Completed NCT00052013 Phase 2
2 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2
3 TKI 258 in Von Hippel-Lindau Syndrome (VHL) Terminated NCT01266070 Phase 2
4 Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to Follow Terminated NCT00330564 Phase 2
5 Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only) Enrolling by invitation NCT02108002 Phase 1
6 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
7 Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
8 Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl System Active, not recruiting NCT02120040
9 Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease Active, not recruiting NCT00005902
10 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Enrolling by invitation NCT02207686
11 Bevacizumab (Avastin) in Unresectable/Recurrent Hemangioblastoma From Von-Hippel-Lindau Disease Terminated NCT01015300 Early Phase 1

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:

39
Spinal Cord, Brain, Retina, Cerebellum, Eye, Endothelial, Pituitary

Publications for Hemangioblastoma

Articles related to Hemangioblastoma:

(show top 50) (show all 625)
id Title Authors Year
1
Image-guided stereotactic radiosurgery for treatment of spinal hemangioblastoma. ( 28041328 )
2017
2
Usefulness of high-resolution 3D multifusion medical imaging for preoperative planning in patients with posterior fossa hemangioblastoma: technical note. ( 27564468 )
2016
3
Isolated hemangioblastoma of the cervical spinal cord: A case report and literature review. ( 27424104 )
2016
4
Refractory Orthostatic Hypotension Caused by a Recurrent Hemangioblastoma: Case Report and Review of the Literature. ( 27158570 )
2016
5
VITREORETINAL SURGERY FOR PATIENTS WITH SEVERE EXUDATIVE AND PROLIFERATIVE MANIFESTATIONS OF RETINAL CAPILLARY HEMANGIOBLASTOMA BECAUSE OF VON HIPPEL-LINDAU DISEASE. ( 27533771 )
2016
6
Cerebellar hemangioblastoma mimicking an aneurysm: A case report and literature review. ( 27698835 )
2016
7
Retraction: Solid hemangioblastoma in the cerebellopontine angle: Importance of external carotid blood supply with regard to the probable site of origin and preoperative embolization. ( 27127707 )
2016
8
18F-FDG and 68Ga-DOTATATE PET/CT in von Hippel-Lindau Disease-Associated Retinal Hemangioblastoma. ( 28033220 )
2016
9
Magnetic resonance imaging findings in spinal hemangioblastoma case. ( 26892370 )
2016
10
Delayed presentation of an arteriovenous malformation after cerebellar hemangioblastoma resection-Case report. ( 27086272 )
2016
11
Surgical treatment of sporadic and von Hippel-Lindau syndrome-associated intramedullary hemangioblastomas. ( 27591060 )
2016
12
Acute hemorrhagic paraplegia in a thoracic spinal hemangioblastoma after free diving. ( 27683699 )
2016
13
Suprasellar Hemangioblastoma Unrelated to von Hippel-Lindau Disease Successfully Treated through Extended Transsphenoidal Approach: Diagnostic Value of Von Hippel-Lindau Disease Gene-Derived Protein. ( 27123746 )
2016
14
Sporadic intramedullary hemangioblastoma with holo-hydrosyringomyelia. ( 26961196 )
2016
15
Surgical Treatment of Hemangioblastoma in the Pituitary Stalk: An Extremely Rare Case. ( 26847309 )
2016
16
Cerebellospinal hemangioblastoma with bilateral pheochromocytoma and hepatic cyst: A rare entity. ( 27366269 )
2016
17
Hemangioblastoma located in the posterior incisural space mimicking a tentorial meningioma: a case report. ( 27339157 )
2016
18
Differentiation of Hemangioblastoma from Metastatic Brain Tumor using Dynamic Contrast-enhanced MR Imaging. ( 26952018 )
2016
19
Role of preoperative embolization of intramedullary hemangioblastoma. ( 27236735 )
2016
20
Cerebellar Hemangioblastoma. ( 26958149 )
2016
21
Intramedullary hemangioblastoma: Microsurgical resection technique. ( 26776665 )
2016
22
Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis. ( 26768750 )
2016
23
Relationship between Spinal Hemangioblastoma Location and Age. ( 27114772 )
2016
24
Spontaneous Devascularization and Detachment of Optic Nerve Hemangioblastoma in a Patient With Von Hippel-Lindau Disease. ( 27608053 )
2016
25
Stereotactic radiosurgery in hemangioblastoma: Experience over 14 years. ( 26933339 )
2016
26
Gamma Knife radiosurgery for intracranial hemangioblastoma. ( 27422585 )
2016
27
Differences in Multimodality Intraoperative Neurophysiological Monitoring Changes Between Spinal Intramedullary Ependymoma and Hemangioblastoma. ( 26690548 )
2016
28
Metastatic cerebellar tumor of papillary thyroid carcinoma mimicking cerebellar hemangioblastoma. ( 27386360 )
2016
29
Diagnosis and microsurgical treatment of spinal hemangioblastoma. ( 26908123 )
2016
30
Successful surgical strategy for a cervical hemangioblastoma: Case report. ( 27843681 )
2016
31
Study of angiogenic signaling pathways in hemangioblastoma. ( 27388534 )
2016
32
Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas. ( 26514359 )
2016
33
Atypical onset of sciatica in a patient with a filum terminale hemangioblastoma. ( 28011175 )
2016
34
Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma. ( 26920352 )
2016
35
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
36
Infundibular Hemangioblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Review of the Literature. ( 26724614 )
2016
37
Solid hemangioblastoma in the cerebellopontine angle: Importance of external carotid blood supply with regard to the probable site of origin and preoperative embolization. ( 26862451 )
2016
38
Coexistence of intracranial aneurysm and hemangioblastoma: A case report and literature review. ( 27339833 )
2016
39
Biological and clinical impact of hemangioblastoma-associated peritumoral cysts in von Hippel-Lindau disease. ( 26517769 )
2015
40
Sporadically second localization of cerebellar hemangioblastoma in sella turcica mimicking a meningioma with no associated von Hippel-Lindau disease. ( 25817084 )
2015
41
Solid hemangioblastoma of vestibular nerve mimicking vestibular schwannoma. ( 25899423 )
2015
42
Intratumoral hemorrhage in a patient with cerebellar hemangioblastoma: a case report and review. ( 25634201 )
2015
43
Cerebellar Hemangioblastoma and Pancreatic Cysts in a Case of von Hippel-Lindau Disease. ( 26522977 )
2015
44
Intractable hiccups caused by syringobulbia and syringomyelia associated with intramedullary spinal hemangioblastoma. ( 25716660 )
2015
45
Hemangioblastoma stromal cells. ( 26173925 )
2015
46
Sporadic intramedullary hemangioblastoma of the spine: a single institutional review of 21 cases. ( 26355433 )
2015
47
Visualization of vascular structure of spinal hemangioblastoma using intraoperative indocyanine green videoangiography and temporary feeder occlusion. ( 25563200 )
2015
48
Lumbar nerve root hemangioblastoma and iliac bone cyst in a patient with Von Hippel-Lindau disease. ( 26334231 )
2015
49
A case of a choroid plexus papilloma mimicking a hemangioblastoma-letter to the editor. ( 26249660 )
2015
50
Medullary hemangioblastoma in a child with von Hippel-Lindau disease: vascular tumor perfusion depicted by arterial spin labeling and dynamic contrast-enhanced imaging. ( 25885801 )
2015

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:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.17 ENO2 EPO EZR INHA MUC1 S100B

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

id 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 epithelial cell differentiation GO:0030855 9.33 EZR MUC1 VEGFA
5 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.32 PAX2 VEGFA
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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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