MCID: HMN009
MIFTS: 60

Hemangioblastoma malady

Neuronal diseases, Cancer diseases categories

Summaries for Hemangioblastoma

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 von hippel-lindau disease and retinal disease. 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. Affiliated tissues include spinal cord, brain and retina, and related mouse phenotypes are integument and homeostasis/metabolism.

Wikipedia:63 Hemangioblastomas (capilliary hemangioblastomas) are tumors of the central nervous system that originate... more...

Aliases & Classifications for Hemangioblastoma

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8Disease Ontology, 42NIH Rare Diseases, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 57SNOMED-CT via Orphanet
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Classifications:

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


Aliases & Descriptions:

hemangioblastoma 8 42 44 48 60
capillary hemangioblastoma 8 42


External Ids:

Disease Ontology8 DOID:5241
MeSH34 D018325
SNOMED-CT56 81201000
NCIt39 C3801
SNOMED-CT via Orphanet57 81201000

Related Diseases for Hemangioblastoma

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17GeneCards, 18GeneDecks
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Diseases related to Hemangioblastoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 257)
idRelated DiseaseScoreTop Affiliating Genes
1von hippel-lindau disease31.2INHA, VEGFA, VHL
2retinal disease30.5SLC2A1, KDR, GFAP, VEGFA, VHL
3pheochromocytoma30.4ENO2, INHA, EPOR, SYP, VHL
4renal clear cell carcinoma30.4TGFA, SLC2A1, KDR, INHA, EPOR, MUC1
5polycythemia30.4EPOR, EPO, VHL
6meningioma30.3TGFA, SLC2A1, GFAP, INHA, EZR, MUC1
7hemangioma30.2SLC2A1, KDR, VEGFA, PDPN, VHL
8hyperparathyroidism30.1EPO
9hydrocephalus30.1AQP1, NES
10hepatitis30.0KRT8
11hemangiopericytoma30.0MUC1, S100B
12clear cell ependymoma30.0MUC1
13retinal detachment30.0GFAP, VEGFA
14vascular disease30.0ENO2, KDR, GFAP, VEGFA
15astrocytoma30.0TGFA, AQP1, SLC2A1, KDR, GFAP, CXCR4
16papilloma29.7TGFA
17choroid plexus papilloma29.7GFAP
18capillary hemangioma29.7SLC2A1
19craniopharyngioma29.7KRT8
20pituitary adenoma29.7INHA, SYP, NES
21glioblastoma multiforme29.7KDR, GFAP, CXCR4, VEGFA, NES, VHL
22malignant glioma29.7TGFA, ENO2, KDR, GFAP, CXCR4, EZR
23adenoma29.7TGFA, ENO2, KRT8, SLC2A1, CXCR4, INHA
24breast cancer29.7TGFA, KRT8, SLC2A1, KDR, CXCR4, EZR
25retinal hemangioblastoma10.5
26renal cell carcinoma10.5
27retinitis10.5
28cerebellar disease10.4
29cervicitis10.4
30cerebritis10.3
31spinal cord disease10.3
32syringomyelia10.2
33central nervous system disease10.2
34nervous system disease10.2
35capillary disease10.1
36primary hyperparathyroidism10.1
37mutism10.1
38hypertension10.1
39angiomatosis10.1
40erythropoietin polycythemia10.0
41arteriovenous malformation10.0
42brain stem angioblastoma10.0
43cerebellar angioblastoma10.0
44adult syndrome10.0
45macular retinal edema10.0
46meningitis10.0
47optic nerve disease10.0
48hemangioblastoma, cerebellar, somatic10.0
49peritonitis10.0AQP1
50cerebral primitive neuroectodermal tumor10.0ENO2

Graphical network of the top 20 diseases related to Hemangioblastoma:



Diseases related to hemangioblastoma

Clinical Features for Hemangioblastoma

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Drugs & Therapeutics for Hemangioblastoma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Hemangioblastoma

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Genetic Tests for Hemangioblastoma

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Anatomical Context for Hemangioblastoma

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32MalaCards
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MalaCards organs/tissues related to Hemangioblastoma:

32
Spinal cord, Brain, Retina, Cerebellum, Eye, Endothelial, Pituitary, Kidney, Medulla oblongata, Pineal, Breast, Skin, Bone, Pons, Lung

Animal Models for Hemangioblastoma or affiliated genes

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36MGI
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Publications for Hemangioblastoma

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50PubMed
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Articles related to Hemangioblastoma:

(show top 50)    (show all 522)
idTitleAuthorsYear
1
VHL-deficient vasculogenesis in hemangioblastoma. (24394472)
2014
2
PAX8 expression in sporadic hemangioblastoma of the kidney supports a primary renal cell lineage: implications for differential diagnosis. (23849894)
2013
3
Pituitary stalk hemangioblastoma in a von hippel-lindau patient : clinical course follow-up over a 20-year period. (23908704)
2013
4
Meningeal supratentorial hemangioblastoma in a patient with von hippel-lindau disease mimicking angioblastic menigioma. (24379949)
2013
5
Coexistence of sporadic cerebellar hemangioblastoma and pituitary null cell adenoma: simultaneous expression of von Hippel-Lindau gene product. Case report. (22976143)
2012
6
Thoracic nerve root hemangioblastoma: a rare cause of posterior mediastinal mass. (22381304)
2012
7
Optic nerve hemangioblastoma: a case report. (22953140)
2012
8
Supratentorial hemangioblastoma. (21427665)
2011
9
Intraosseous hemangioblastoma mimicking spinal metastasis in the patient with renal cell carcinoma. (21887401)
2011
10
Fluorescence diagnosis of tumor cells in hemangioblastoma cysts with 5-aminolevulinic acid. (19480541)
2010
11
Symptomatic cerebellar hemorrhage from recurrent hemangioblastoma during delivery. Case report. (21206188)
2010
12
Images in clinical medicine. Retinal hemangioblastoma in von Hippel-Lindau disease. (20818857)
2010
13
Supratentorial hemangioblastoma in the neonatal period. (19321952)
2009
14
Cerebellar hemangioblastoma manifesting as hearing disturbance. (19779288)
2009
15
Monotherapy with thalidomide for treatment of spinal cord hemangioblastomas in a patient with von Hippel-Lindau disease. (19415739)
2009
16
Spinal cord hemangioblastomas in von Hippel-Lindau disease. (19030009)
2009
17
Normalization of systemic arterial hypertension following removal of posterior fossa hemangioblastoma: a case report. (20181189)
2009
18
Cytodiagnosis of supratentorial hemangioblastoma. (18500008)
2008
19
Pituitary stalk hemangioblastoma: the fourth case report and review of the literature. (17187928)
2007
20
Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma. (16572651)
2006
21
Hemangioblastoma of the filum terminale. (16459083)
2006
22
Stromal cells in hemangioblastoma: neuroectodermal differentiation and morphological similarities to ependymoma. (15982211)
2005
23
Phrenic nerve hemangioblastoma in a von Hippel-Lindau patient. (15727993)
2005
24
Expression of stem cells markers in ocular hemangioblastoma associated with von Hippel-Lindau (VHL) disease. (16163267)
2005
25
Intractable hiccups as a presenting symptom of cerebellar hemangioblastoma. Case report. (15200132)
2004
26
Surgical management of brainstem hemangioblastomas in patients with von Hippel-Lindau disease. (12546357)
2003
27
Hemangioblastoma: a study of radiopathologic correlation. (14652443)
2003
28
Images in neuro-oncology. Hemangioblastoma. (14686731)
2003
29
A case of von Hippel-Lindau disease with bilateral pheochromocytoma, renal cell carcinoma, pelvic tumor, spinal hemangioblastoma and primary hyperparathyroidism. (12081237)
2002
30
Metastasis of clear-cell renal carcinoma to cerebellar hemangioblastoma in von Hippel Lindau disease: rare or not investigated? (11685614)
2001
31
Hemangioblastoma of the third ventricle. (10547017)
1999
32
The occurrence of cerebellar hemangioblastoma in numerous first degree relatives with von Hippel-Lindau disease. (10581854)
1999
33
Hemangioblastoma of the IV ventricle. (7585692)
1995
34
Up-regulation of vascular endothelial growth factor and its receptors in von Hippel-Lindau disease-associated and sporadic hemangioblastomas. (7533661)
1995
35
Congenital cystic supratentorial hemangioblastoma. Case report. (7815112)
1995
36
Exophytic intramedullary hemangioblastoma presenting as an extramedullary mass on myelography. (7611064)
1995
37
Magnetic resonance imaging and microsurgical treatment of intramedullary hemangioblastoma of the spinal cord. (7808610)
1994
38
Radiosurgical treatment of a hemangioblastoma: case report. (8177399)
1994
39
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. (1741127)
1992
40
Secondary erythrocytosis due to a cerebellar hemangioblastoma: demonstration of erythropoietin mRNA in the tumor. (1859878)
1991
41
Extensive replacement of spinal cord and brainstem by hemangioblastoma in a case of von Hippel-Lindau disease. (1764853)
1991
42
Immunohistochemical study of erythropoietin in cerebellar hemangioblastomas associated with secondary polycythemia. (1994278)
1991
43
MR imaging of spinal cord hemangioblastoma associated with syringomyelia. (3366970)
1988
44
Cerebellar hemangioblastoma symptomatic during pregnancy. (3287215)
1988
45
Ultrastructure of cerebellar capillary hemangioblastoma. IV. Pericytes and their relationship to endothelial cells. (4050340)
1985
46
Hemangioblastoma presenting with intraparenchymatous hemorrhage. (6541682)
1984
47
Computed tomography in supratentorial hemangioblastoma. (6542481)
1984
48
Pituitary hemangioblastoma in a patient with von Hippel-Lindau disease. Case report. (1167581)
1975
49
Cerebral hemangioblastoma. Case report. (5951226)
1966
50
Recurrence of cerebellar hemangioblastoma after 22 years; operation and recovery. (13377219)
1956

Genetic Variations for Hemangioblastoma

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Expression for genes affiliated with Hemangioblastoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 29KEGG, 4Cell Signaling Technology
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Pathways related to Hemangioblastoma according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3SLC2A1, VHL
2
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10.3KDR, VEGFA
3
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10.3CXCR4, CD2
4
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10.2VHL, VEGFA, EPO
5
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10.2KDR, VEGFA, VHL
6
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10.2CXCR4, EPOR, CD2
710.2EPOR, EPO, CD2
810.2VHL, EPO, SLC2A1
9
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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

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 2BitterDB
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Compounds related to Hemangioblastoma according to GeneCards/GeneDecks:

(show top 50)    (show all 137)
idCompoundScoreTop Affiliating Genes
1estrogen4410.8GFAP
2glutamate4410.8GFAP
3butyrate4410.7GFAP
4sialic acid4410.6CD2, EPO
5reticulin4410.5SYP, MUC1, GFAP
6forskolin44 49 1112.5ENO2, GFAP, EZR, KRT8
7s 1004410.5S100B, MUC1, GFAP, ENO2, SYP
8glycogen44 2411.4GFAP, VHL, SLC2A1, KRT8, SYP
9b 7234410.4MUC1, SYP, KRT8, PDPN, S100B
10creatinine4410.4TGFA, EPO, SYP, GFAP, AQP1
11glucose4410.4CD2, MUC1, AQP1, KRT8, SLC2A1, GFAP
12cobalt chloride4410.4SLC2A1, VEGFA, EPO, VHL
13serine4410.3S100B, EPOR, GFAP, SLC2A1, KRT8, VHL
14dopamine44 28 11 2413.3ENO2, NES, GFAP, TGFA, KDR
15dexamethasone44 49 28 1113.3VEGFA, AQP1, S100B, ENO2, GFAP, KDR
16hematoxylin4410.2S100B, MUC1, INHA, GFAP, KRT8, ENO2
17bromodeoxyuridine4410.2S100B, KRT8, NES, TGFA, ENO2, GFAP
18choline44 11 2412.2TGFA, S100B, GFAP, ENO2, NES, SYP
19gaba4410.2TGFA, SLC2A1, GFAP, SYP, NES, S100B
20formaldehyde44 2411.2S100B, SYP, MUC1, GFAP, ENO2, TGFA
21ly2940024410.2KDR, SLC2A1, TGFA, CXCR4, EZR, EPOR
22actinomycin d4410.2TGFA, KRT8, SLC2A1, CXCR4, EPOR, MUC1
23dbc-amp4410.2S100B, SYP, ENO2, GFAP, TGFA
24acth4410.2MUC1, SYP, GFAP, INHA, S100B, ENO2
25agar4410.2GFAP, EPOR, CXCR4, KDR, SLC2A1, KRT8
26paclitaxel44 49 1112.1S100B, TGFA, KRT8, KDR, GFAP, VEGFA
27carboplatin44 49 1112.1VEGFA, EPO, CXCR4, KDR, ENO2
28genistein44 28 59 2 11 2415.1SYP, TGFA, KRT8, SLC2A1, KDR, GFAP
29matrigel4410.1GFAP, KDR, VEGFA, NES, EZR, CXCR4
30thymidine44 2411.1S100B, EPO, MUC1, GFAP, KDR, ENO2
31rapamycin4410.1VEGFA, VHL, KDR, CXCR4, SLC2A1, TGFA
32progesterone44 59 28 11 2414.1S100B, INHA, MUC1, TGFA, ENO2, GFAP
33wortmannin4410.1SLC2A1, CD2, KDR, CXCR4, S100B, EPOR
34nitric oxide44 11 2412.0VHL, S100B, NES, SYP, CXCR4, MUC1
35lactate4410.0KRT8, S100B, CXCR4, GFAP, KDR, SLC2A1
36testosterone44 59 11 2413.0S100B, TGFA, MUC1, CXCR4, INHA, EPO
37oxygen44 2411.0S100B, NES, MUC1, EPO, EPOR, CXCR4
38alanine4410.0TGFA, AQP1, S100B, EPOR, EZR, INHA
39cysteine449.9S100B, MUC1, EPOR, GFAP, KDR, AQP1
40cisplatin44 49 59 1112.9GFAP, EPOR, CXCR4, KDR, SLC2A1, KRT8
41retinoic acid44 2410.9ENO2, S100B, NES, SYP, MUC1, CXCR4
42phosphotyrosine449.9KRT8, KDR, EZR, EPOR, SYP, TGFA
43lipid449.9AQP1, ENO2, KRT8, GFAP, EZR, EPOR
44steroid449.9SYP, EPOR, TGFA, CXCR4, INHA, AQP1
452-mercaptoethanol449.8GFAP, NES, ENO2, AQP1
46iron44 2410.8ENO2, KRT8, EPOR, EPO, GFAP, S100B
47calcium44 49 11 2412.5EZR, GFAP, CXCR4, KRT8, EPOR, CD2
48paraffin449.5S100B, SLC2A1, GFAP, KDR, KRT8, ENO2
49vegf449.4VHL, S100B, SLC2A1, TGFA, AQP1, KRT8
50tyrosine449.2CD2, MUC1, VEGFA, SYP, NES, PDPN

GO Terms for genes affiliated with Hemangioblastoma

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16Gene Ontology
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Cellular components related to Hemangioblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00588210.2KRT8, GFAP, NES
2basolateral plasma membraneGO:01632310.2TGFA, AQP1, SLC2A1, EZR
3cell surfaceGO:00998610.1VEGFA, MUC1, EPO, CXCR4, TGFA
4apical plasma membraneGO:01632410.0PDPN, MUC1, EZR, AQP1
5ruffleGO:0017269.9EZR, PDPN, S100B
6extracellular regionGO:0055769.8S100B, VEGFA, MUC1, CD2, EPO, EPOR

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:00537210.2PDPN, AQP1
3identical protein bindingGO:0428029.8SLC2A1, EPOR, VEGFA, SYP, S100B
4protein bindingGO:0055159.2TGFA, VHL, S100B, VEGFA, MUC1, CD2

Products for genes affiliated with Hemangioblastoma

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Sources for Hemangioblastoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet