MCID: HMN009
MIFTS: 50

Hemangioblastoma malady

Neuronal, Cancer categories

Summaries for Hemangioblastoma

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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: Hemangioblastoma, also known as capillary hemangioblastoma, is related to pheochromocytoma and renal clear cell carcinoma. An important gene associated with Hemangioblastoma is VEGFA (vascular endothelial growth factor A), and among its related pathways are HIF-2-alpha transcription factor network and Signaling by VEGF. The compounds estrogen and glutamate have been mentioned in the context of this disorder. Related mouse phenotypes are integument and homeostasis/metabolism.

Wikipedia:64 Hemangioblastomas (capilliary hemangioblastomas) are tumors of the central nervous system that originate... more...

Aliases & Classifications for Hemangioblastoma

Sources:
8Disease Ontology, 43NIH Rare Diseases, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer
Anatomical: Neuronal


Aliases & Descriptions:

hemangioblastoma 8 43 45 49 61
capillary hemangioblastoma 8 43


External Ids:

Disease Ontology8 DOID:5241
MeSH35 D018325
SNOMED-CT57 81201000
NCIt40 C3801

Related Diseases for Hemangioblastoma

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 245)
idRelated DiseaseScoreTop Affiliating Genes
1pheochromocytoma30.5ENO2, INHA, EPOR, SYP, VHL
2renal clear cell carcinoma30.5TGFA, SLC2A1, KDR, INHA, EPOR, MUC1
3erythrocytosis30.4EPOR, EPO, VHL
4von hippel-lindau disease30.4INHA, VEGFA, VHL
5ependymoma30.2ENO2, GFAP, EZR, MUC1, SYP, NES
6clear cell ependymoma30.0MUC1
7vascular disease30.0ENO2, KDR, GFAP, VEGFA
8astrocytoma30.0TGFA, AQP1, SLC2A1, KDR, GFAP, CXCR4
9choroid plexus papilloma29.8GFAP
10anaplastic astrocytoma29.8GFAP, VEGFA, NES
11pilocytic astrocytoma29.8GFAP, SYP, NES, S100B
12adenoma29.8TGFA, ENO2, KRT8, SLC2A1, CXCR4, INHA
13retinal hemangioblastoma10.6
14clear cell renal cell carcinoma10.3
15spinal cord disease10.3
16syringomyelia10.2
17brain disease10.2
18angiomatosis10.2
19hemangioblastoma, cerebellar, somatic10.2
20primary hyperparathyroidism10.1
21mutism10.1
22erythropoietin polycythemia10.0
23arteriovenous malformation10.0
24brain stem angioblastoma10.0
25cerebellar angioblastoma10.0
26adult syndrome10.0
27n syndrome10.0
28peritonitis10.0AQP1
29cerebral primitive neuroectodermal tumor10.0ENO2
30hepatitis10.0KRT8
31thymoma10.0CD2
32dysembryoplastic neuroepithelial tumor10.0SYP
33liver cirrhosis10.0KRT8
34ductal carcinoma in situ10.0PDPN
35retinopathy of prematurity10.0VEGFA
36papilloma10.0TGFA
37medulloepithelioma10.0SYP
38laryngeal squamous cell carcinoma10.0VEGFA
39bladder carcinoma10.0TGFA
40leydig cell tumor10.0INHA
41melanotic neuroectodermal tumor10.0SYP
42cystadenoma10.0INHA, VHL
43giant cell glioblastoma10.0GFAP
44capillary hemangioma10.0SLC2A1
45age related macular degeneration10.0VEGFA
46hemangiopericytoma10.0MUC1, S100B
47rhabdoid tumor10.0MUC1, SYP
48hepatitis b10.0KRT8
49craniopharyngioma10.0KRT8
50neuroblastoma10.0ENO2, SYP

Graphical network of the top 20 diseases related to Hemangioblastoma:



Diseases related to hemangioblastoma

Clinical Features for Hemangioblastoma

Drugs & Therapeutics for Hemangioblastoma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hemangioblastoma

Drug clinical trials:

Search ClinicalTrials for Hemangioblastoma

Search NIH Clinical Center for Hemangioblastoma

Search CenterWatch for Hemangioblastoma

Genetic Tests for Hemangioblastoma

Anatomical Context for Hemangioblastoma

Animal Models for Hemangioblastoma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hemangioblastoma

Sources:
51PubMed
See all sources

Articles related to Hemangioblastoma:

(show top 50)    (show all 533)
idTitleAuthorsYear
1
Medullary hemangioblastoma: 34 patients at a single institution. (24210696)
2014
2
Hemangioblastoma-like clear cell stromal tumor of the lung. (23399799)
2013
3
PAX8 expression in sporadic hemangioblastoma of the kidney supports a primary renal cell lineage: implications for differential diagnosis. (23849894)
2013
4
Clinically unsuspected retinal hemangioblastoma in a blind eye as the initial manifestation of von Hippel-Lindau disease. (22281434)
2012
5
Coexistence of sporadic cerebellar hemangioblastoma and pituitary null cell adenoma: simultaneous expression of von Hippel-Lindau gene product. Case report. (22976143)
2012
6
Supratentorial hemangioblastoma: clinical features, prognosis, and predictive value of location for von Hippel-Lindau disease. (22723428)
2012
7
Clinical use of a neuronavigation system in hemangioblastoma resection of posterior cranial fossa. (22049944)
2012
8
Manifestation of a sellar hemangioblastoma due to pituitary apoplexy: a case report. (21970745)
2011
9
Supratentorial hemangioblastoma. (21427665)
2011
10
Von Hippel-Lindau disease manifesting disseminated leptomeningeal hemangioblastomatosis: surgery or medication? (20938791)
2011
11
Review of "natural history of supratentorial hemangioblastomas in von hippel-lindau disease". (21959491)
2011
12
Fluorescence diagnosis of tumor cells in hemangioblastoma cysts with 5-aminolevulinic acid. (19480541)
2010
13
Hemangioblastoma of the cerebellopontine angle. (20644074)
2010
14
Cystic hemangioblastoma of the brainstem. (21799613)
2010
15
Surgical management of cerebellar hemangioblastomas in patients with von Hippel-Lindau disease. (18240914)
2008
16
Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel-Lindau disease. (17543389)
2008
17
Hemangioblastoma of the optic nerve--case report. (17527048)
2007
18
Role of fractionated external beam radiotherapy in hemangioblastoma of the central nervous system. (17869023)
2007
19
Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma. (16572651)
2006
20
Leptomeningeal hemangioblastoma. Case illustration. (16206984)
2004
21
Intractable hiccups as a presenting symptom of cerebellar hemangioblastoma. Case report. (15200132)
2004
22
Cerebellar hemangioblastomas--a study of the immunoprofile of neoplastic stromal component]. (15330300)
2004
23
Surgical management of brainstem hemangioblastomas in patients with von Hippel-Lindau disease. (12546357)
2003
24
Sacral hemangioblastoma in a patient with von Hippel-Lindau disease. Case report and review of the literature. (15350042)
2003
25
Diagnosis and treatment of intramedullary hemangioblastoma of cervical spinal cord. (12150732)
2002
26
Suprasellar hemangioblastoma in a patient with von Hippel-Lindau disease confirmed by germline mutation study: case report and review of the literature. (11546565)
2001
27
Solitary peripapillary hemangioblastoma. A histopathological case report. (11167297)
2001
28
Preoperative embolization of upper cervical cord hemangioblastoma concomitant with venous congestion--case report. (11109798)
2000
29
Clinicopathological study of vascular endothelial growth factor (VEGF), p53, and proliferative potential in familial von Hippel-Lindau disease and sporadic hemangioblastomas. (11310918)
2000
30
Hemangioblastoma of the third ventricle. (10547017)
1999
31
Treatment of hemangioblastomas in von Hippel-Lindau disease with linear accelerator-based radiosurgery. (9657185)
1998
32
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. (8675694)
1996
33
Congenital cystic supratentorial hemangioblastoma. Case report. (7815112)
1995
34
A comparative study of "angioblastic meningioma", hemangiopericytoma and cerebellar hemangioblastoma]. (8340101)
1993
35
Hemangioblastoma of the brain stem presenting as hypertension. (8300500)
1993
36
Successful total removal of intramedullary hemangioblastoma from the medulla oblongata. (8451715)
1993
37
Expression of vascular endothelial growth factor in capillary hemangioblastoma. (7688226)
1993
38
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. (1741127)
1992
39
Ultrastructure of cerebellar capillary hemangioblastoma. VI. Concentric lamellar bodies of endoplasmic reticulum in stromal cells. (3687386)
1987
40
Hemangioblastoma of the cauda equina. (4039238)
1985
41
Hemangioblastoma of the third ventricle. (6540845)
1984
42
Effect of radiation therapy on hemangioblastoma: a case report and review of the literature. (7354902)
1980
43
Supratentorial hemangioblastoma in a child. Case report. (7189551)
1980
44
Cerebellar capillary hemangioblastoma: its histogenesis studied by organ culture and electron microscopy. (163132)
1975
45
Pituitary hemangioblastoma in a patient with von Hippel-Lindau disease. Case report. (1167581)
1975
46
Posterior medullary hemangioblastoma. (5063428)
1972
47
Hemangioblastoma of the cerebellum associated with erythrocytosis and an unusual blood supply. Case report. (5463009)
1970
48
Cerebellar hemangioblastoma. (5388195)
1969
49
Recurrence of cerebellar hemangioblastoma after 22 years; operation and recovery. (13377219)
1956
50
Hemangioblastoma of retina. (13050682)
1953

Genetic Variations for Hemangioblastoma

Expression for genes affiliated with Hemangioblastoma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hemangioblastoma

Search GEO for disease gene expression data for Hemangioblastoma.

Pathways for genes affiliated with Hemangioblastoma

Sources:
38NCBI BioSystems Database, 54Reactome, 52QIAGEN, 30KEGG, 4Cell Signaling Technology
See all sources

Pathways related to Hemangioblastoma according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3SLC2A1, VHL
2
Hide members
10.3KDR, VEGFA
3
Hide members
10.3CXCR4, CD2
4
Hide members
10.2VHL, VEGFA, EPO
5
Hide members
10.2KDR, VEGFA, VHL
6
Hide members
10.2CXCR4, EPOR, CD2
710.2EPOR, EPO, CD2
810.2VHL, EPO, SLC2A1
9
Hide members
10.2VEGFA, CXCR4, KDR
1010.2VHL, KDR, TGFA
1110.1VEGFA, EPO, CXCR4, SLC2A1
1210.1ENO2, GFAP, SYP, S100B, VHL
1310.1ENO2, SLC2A1, EPO, VEGFA, VHL
14
Hide members
9.9VHL, CD2, EPOR, CXCR4, GFAP, KDR

Compounds for genes affiliated with Hemangioblastoma

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Hemangioblastoma according to GeneCards/GeneDecks:

(show top 50)    (show all 137)
idCompoundScoreTop Affiliating Genes
1estrogen4510.8GFAP
2glutamate4510.8GFAP
3butyrate4510.7GFAP
4sialic acid4510.6CD2, EPO
5reticulin4510.5SYP, MUC1, GFAP
6forskolin45 50 1112.5ENO2, GFAP, EZR, KRT8
7s 1004510.5S100B, MUC1, GFAP, ENO2, SYP
8glycogen45 2411.4GFAP, VHL, SLC2A1, KRT8, SYP
9b 7234510.4MUC1, SYP, KRT8, PDPN, S100B
10creatinine4510.4TGFA, EPO, SYP, GFAP, AQP1
11glucose4510.4CD2, MUC1, AQP1, KRT8, SLC2A1, GFAP
12cobalt chloride4510.4SLC2A1, VEGFA, EPO, VHL
13serine4510.3S100B, EPOR, GFAP, SLC2A1, KRT8, VHL
14dopamine45 29 11 2413.3ENO2, NES, GFAP, TGFA, KDR
15dexamethasone45 50 29 1113.3VEGFA, AQP1, S100B, ENO2, GFAP, KDR
16hematoxylin4510.2S100B, MUC1, INHA, GFAP, KRT8, ENO2
17bromodeoxyuridine4510.2S100B, KRT8, NES, TGFA, ENO2, GFAP
18choline45 11 2412.2TGFA, S100B, GFAP, ENO2, NES, SYP
19gaba4510.2TGFA, SLC2A1, GFAP, SYP, NES, S100B
20formaldehyde45 2411.2S100B, SYP, MUC1, GFAP, ENO2, TGFA
21ly2940024510.2KDR, SLC2A1, TGFA, CXCR4, EZR, EPOR
22actinomycin d4510.2TGFA, KRT8, SLC2A1, CXCR4, EPOR, MUC1
23dbc-amp4510.2S100B, SYP, ENO2, GFAP, TGFA
24acth4510.2MUC1, SYP, GFAP, INHA, S100B, ENO2
25agar4510.2GFAP, EPOR, CXCR4, KDR, SLC2A1, KRT8
26paclitaxel45 50 1112.1S100B, TGFA, KRT8, KDR, GFAP, VEGFA
27carboplatin45 50 1112.1VEGFA, EPO, CXCR4, KDR, ENO2
28genistein45 29 60 2 11 2415.1SYP, TGFA, KRT8, SLC2A1, KDR, GFAP
29matrigel4510.1GFAP, KDR, VEGFA, NES, EZR, CXCR4
30thymidine45 2411.1S100B, EPO, MUC1, GFAP, KDR, ENO2
31rapamycin4510.1VEGFA, VHL, KDR, CXCR4, SLC2A1, TGFA
32progesterone45 60 29 11 2414.1S100B, INHA, MUC1, TGFA, ENO2, GFAP
33wortmannin4510.1SLC2A1, CD2, KDR, CXCR4, S100B, EPOR
34nitric oxide45 11 2412.0VHL, S100B, NES, SYP, CXCR4, MUC1
35lactate4510.0KRT8, S100B, CXCR4, GFAP, KDR, SLC2A1
36testosterone45 60 11 2413.0S100B, TGFA, MUC1, CXCR4, INHA, EPO
37oxygen45 2411.0S100B, NES, MUC1, EPO, EPOR, CXCR4
38alanine4510.0TGFA, AQP1, S100B, EPOR, EZR, INHA
39cysteine459.9S100B, MUC1, EPOR, GFAP, KDR, AQP1
40cisplatin45 50 60 1112.9GFAP, EPOR, CXCR4, KDR, SLC2A1, KRT8
41retinoic acid45 2410.9ENO2, S100B, NES, SYP, MUC1, CXCR4
42phosphotyrosine459.9KRT8, KDR, EZR, EPOR, SYP, TGFA
43lipid459.9AQP1, ENO2, KRT8, GFAP, EZR, EPOR
44steroid459.9SYP, EPOR, TGFA, CXCR4, INHA, AQP1
452-mercaptoethanol459.8GFAP, NES, ENO2, AQP1
46iron45 2410.8ENO2, KRT8, EPOR, EPO, GFAP, S100B
47calcium45 50 11 2412.5EZR, GFAP, CXCR4, KRT8, EPOR, CD2
48paraffin459.5S100B, SLC2A1, GFAP, KDR, KRT8, ENO2
49vegf459.4VHL, S100B, SLC2A1, TGFA, AQP1, KRT8
50tyrosine459.2CD2, MUC1, VEGFA, SYP, NES, PDPN

GO Terms for genes affiliated with Hemangioblastoma

Sources:
16Gene Ontology
See all sources

Cellular components related to Hemangioblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00588210.2GFAP, KRT8, NES
2basolateral plasma membraneGO:01632310.2AQP1, TGFA, EZR, SLC2A1
3cell surfaceGO:00998610.1TGFA, CXCR4, EPO, MUC1, VEGFA
4apical plasma membraneGO:01632410.0AQP1, EZR, MUC1, PDPN
5ruffleGO:0017269.9EZR, S100B, PDPN
6extracellular regionGO:0055769.8S100B, VEGFA, KDR, INHA, EPOR, EPO

Biological processes related to Hemangioblastoma according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1hemoglobin biosynthetic processGO:04254110.5INHA, EPO
2regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:06141810.5EPO, VEGFA, VHL
3cellular hyperosmotic responseGO:07147410.5AQP1, EPO
4ovarian follicle developmentGO:00154110.4VEGFA, INHA, KDR
5positive regulation of positive chemotaxisGO:05092710.4VEGFA, KDR
6surfactant homeostasisGO:04312910.4VEGFA, KDR
7cellular response to hypoxiaGO:07145610.4AQP1, EPO, VEGFA, S100B, VHL
8positive regulation of cellular component movementGO:05127210.3PDPN, VEGFA
9regulation of cell shapeGO:00836010.3S100B, PDPN, VEGFA, EZR, KDR
10response to hyperoxiaGO:05509310.3EPO, PDPN
11negative regulation of apoptotic processGO:04306610.2VHL, NES, VEGFA, KDR, AQP1, TGFA
12positive regulation of angiogenesisGO:04576610.1VEGFA, KDR, AQP1
13positive regulation of focal adhesion assemblyGO:05189410.0KDR, VEGFA

Molecular functions related to Hemangioblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1water channel activityGO:01525010.3AQP1, PDPN
2water transmembrane transporter activityGO:00537210.2AQP1, PDPN
3identical protein bindingGO:0428029.8SLC2A1, EPOR, VEGFA, SYP, S100B
4protein bindingGO:0055159.2CD2, MUC1, S100B, EPO, EPOR, EZR

Products for genes affiliated with Hemangioblastoma

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemangioblastoma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet