MCID: HMN009
MIFTS: 45

Hemangioblastoma malady

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

Aliases & Classifications for Hemangioblastoma

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Sources:
11Disease Ontology, 13DISEASES, 30ICD10 via Orphanet, 38MeSH, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hemangioblastoma:

Name: Hemangioblastoma 11 47 53 49 38 13 67
 
Capillary Hemangioblastoma 11 47

Characteristics:

Orphanet epidemiological data:

53
hemangioblastoma:
Age of onset: Adult

Classifications:



External Ids:

Disease Ontology11 DOID:5241
MeSH38 D018325
NCIt44 C3801
SNOMED-CT61 81201000
Orphanet53 ORPHA252054
ICD10 via Orphanet30 D33.4, D33.7
UMLS via Orphanet68 C0206734

Summaries for Hemangioblastoma

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Wikipedia:70 Hemangioblastomas (or haemangioblastomas, see spelling differences) (capilliary hemangioblastomas) are... more...

MalaCards based summary: Hemangioblastoma, also known as capillary hemangioblastoma, is related to von hippel-lindau syndrome and clear cell ependymoma. An important gene associated with Hemangioblastoma is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways are Hematopoietic cell lineage and HIF-1-alpha transcription factor network. Affiliated tissues include spinal cord, brain and cerebellum, and related mouse phenotypes are digestive/alimentary and liver/biliary system.

Related Diseases for Hemangioblastoma

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

(show top 50)    (show all 226)
idRelated DiseaseScoreTop Affiliating Genes
1von hippel-lindau syndrome32.8INHA, VEGFA, VHL
2clear cell ependymoma30.2GFAP, SYP
3syringomyelia30.0MUC1, SYP
4renal cell carcinoma27.6KRT8, MME, MUC1, PAX2, SLC2A1, VEGFA
5retinal hemangioblastoma12.0
6angiomatosis11.1
7cerebellar angioblastoma11.0
8brain stem angioblastoma10.8
9grubben de cock borghgraef syndrome10.7GFAP, SYP
10papillary glioneuronal tumor10.7GFAP, SYP
11lice infestation10.7GFAP, SYP
12chiari malformation type 410.7GFAP, SYP
13cauda equina neoplasm10.7GFAP, SYP
14glomus tumor10.7GFAP, SYP
15brain glioma10.6GFAP, SYP
16vulvar benign neoplasm10.6GFAP, SYP
17hypersensitivity reaction type ii disease10.6GFAP, SYP
18brainstem intraparenchymal clear cell meningioma10.6GFAP, SYP
19jewett-marshall bladder cancer10.6GFAP, SYP
20conjunctivitis10.6EZR, GFAP
21yolk sac tumor of central nervous system10.6GFAP, SYP
22atypical choroid plexus papilloma10.6GFAP, SYP
23pilomyxoid astrocytoma10.6GFAP, SYP
24cauda equina intradural extramedullary astrocytoma10.6GFAP, SYP
25choroid disease10.6GFAP, SYP
26subpulmonary stenosis10.6GFAP, SYP
27fraxf syndrome10.6S100B, SYP
28vitamin metabolic disorder10.6GFAP, SYP
29pulmonary venoocclusive disease10.6GFAP, S100B
30plexopathy10.6GFAP, SYP
31global developmental delay-lung cysts-overgrowth-wilms tumor syndrome10.6MME, VHL
32malignant granular cell esophageal tumor10.6GFAP, SYP
33hypogonadism cardiomyopathy10.6S100B, SYP
34gallbladder signet ring cell adenocarcinoma10.6MME, SYP
35congenital hypogammaglobulinemia10.6GFAP, SYP
36malignant pineal area germ cell neoplasm10.6GFAP, SYP
37hemiplegia alterans10.6GFAP, S100B
38ependymoblastoma10.6GFAP, SYP
39space motion sickness10.6S100B, SYP
40diencephalic astrocytomas10.5GFAP, SYP
41acute retinal necrosis syndrome10.5MME, PAX2
42pulmonary plasma cell granuloma10.5GFAP, SYP
43gangliocytoma10.5GFAP, INHA
44inflammatory mfh10.4INHA, S100B, SYP
45intracystic papillary adenoma10.4GFAP, S100B, SYP
46mucinous cystadenocarcinoma10.4INHA, VEGFA
47pineal parenchymal tumor of intermediate differenciation10.4GFAP, S100B, SYP
48iodine hypothyroidism10.4GFAP, S100B, SYP
49acanthoma10.4MME, SYP
50protoplasmic astrocytoma10.4GFAP, S100B, SYP

Graphical network of the top 20 diseases related to Hemangioblastoma:



Diseases related to hemangioblastoma

Symptoms for Hemangioblastoma

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Drugs & Therapeutics for Hemangioblastoma

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

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sunitinibapproved, investigationalPhase 2500341031-54-7, 557795-19-45329102
Synonyms:
(2S)-2-hydroxybutanedioic acid
1H-Pyrrole-3-carboxamide, N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-, (2S)-hydroxybutanedioate (1:1)
1H-Pyrrole-3-carboxamide, N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-, (2S)-hydroxybutanedioate (1:1)
326914-13-0
341031-54-7
5-(5-FLUORO-2-OXO-1,2-DIHYDRO-INDOL-3-YLIDENEMETHYL)-2,4-DIMETHYL-1H-PYRROLE-3-CARBOXYLIC ACID (2-DIETHYLAMINO-ETHYL)-AMIDE
557795-19-4
AC1NS62J
AC1O5CMQ
AKOS005145765
Butanedioic acid, hydroxy-, (2S)-, compd. with N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-1H-pyrrole-3-carboxamide (1:1)
CHEBI:38940
CHEBI:550864
CHEMBL1567
CHEMBL535
CID5329102
CID6456015
D06402
D08552
DB01268
DB07417
EN002687
FT-0083555
FT-0083556
I01-1229
K00588a
KS-5022
LS-186078
LS-187023
LS-187648
MolPort-003-986-763
N-(2-(Diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-1H-pyrrole-3-carboxamide (2S)-hydroxybutanedioate
N-(2-diethylaminoethyl)-5-[(Z)-(5-fluoro-2-oxo-1H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide
N-[2-(diethylamino)ethyl]-5-[(Z)-(5-fluoro-2-oxo-1,2-dihydro-3H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide
NCGC00164631-01
 
NSC736511
NSC750690
PDGF TK antagonist
PHA-290940AD
PNU-290940AD
S1042_Selleck
ST51053712
SU 011248
SU 11248
SU-010398
SU-011248 L-malate salt
SU-11248
SU-11248 L-malate salt
SU-11248J
SU-12662
SU010398
SU011248
SU011248 L-malate salt
SU11248
Su-011248
Sunitanib
Sunitinib
Sunitinib (INN)
Sunitinib (free base)
Sunitinib malate
Sunitinib malate (JAN/USAN)
Sunitinib malate [USAN]
Sunitinibum
Sutent
Sutent (TN)
Sutent, SU-11248
TL8002546
UNII-LVX8N1UT73
UNII-V99T50803M
sunitinib
sunitinibum
2
PancrelipaseapprovedPhase 293553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
3
VatalanibinvestigationalPhase 240212141-54-3151194
Synonyms:
1-(4-chloroanilino)-4-(4-pyridylmethyl)phthalazine succinate
CGP79787
PTK 787
 
PTK/ZK
PTK787
PTK787/ZK 222584
ZK222584
vatalanib
4Protein Kinase InhibitorsPhase 23612
5Angiogenesis Modulating AgentsPhase 2, Early Phase 14072
6Angiogenesis InhibitorsPhase 2, Early Phase 14143
7Cytochrome P-450 CYP3A InducersPhase 21101
8pancreatinPhase 2935
9
Vorinostatapproved, investigationalPhase 1242149647-78-95311
Synonyms:
149647-78-9
1zz1
AC-1923
AC1L1K2K
BRD-K81418486-001-10-3
C111237
CCRIS 8456
CHEBI:45716
CHEMBL98
CID5311
D06320
DB02546
EC-000.2057
FT-0082592
LS-186548
LS-186997
LS-187780
MK-0683
MK0683
MLS001065855
Merck brand of Vorinostat
MolPort-003-850-293
N'-hydroxy-N-phenyloctanediamide
N-Hydroxy-N'-phenyl octanediamide
N-Hydroxy-N'-phenyloctanediamide
N-Hyrdroxy-N'-phenyloctanediamide
N-hydroxy-N'-phenyl-octane-1,8-diotic acid diamide
N-hydroxy-N'-phenyloctanediamide
N1-hydroxy-N8-phenyloctanediamide
NCGC00168085-02
 
NHNPODA
NSC-701852
NSC701852
OCTANEDIOIC ACID HYDROXYAMIDE PHENYLAMIDE
Octanedioic acid hydroxyamide phenylamide
S1047_Selleck
SAHA
SAHA cpd
SAHA, Suberoylanilide hydroxamic acid
SHH
SKI390
SMR000486344
SW-064652
Suberanilohydroxamic acid
SuberoylaN/Aide hydroxamic acid
Suberoylanilide hydroxamic acid
UNII-58IFB293JI
Vorinostat
Vorinostat (JAN/USAN)
Vorinostat MSD
Vorinostat [USAN]
Vorinostatum
WIN64652
ZINC01543873
Zolinza
Zolinza (TN)
Zolinza, MK-0683, SAHA
m344
nchembio.275-comp2
nchembio.313-comp1
nchembio815-comp18
suberoylanilide hydroxamic acid
10Histone Deacetylase InhibitorsPhase 1566
11
Bevacizumabapproved, investigationalEarly Phase 11968216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
12Mitogens1526
13Endothelial Growth Factors362

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584CompletedNCT00052013Phase 2
2Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable MeningiomaCompletedNCT00589784Phase 2
3TKI 258 in Von Hippel-Lindau Syndrome (VHL)TerminatedNCT01266070Phase 2
4Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to FollowTerminatedNCT00330564Phase 2
5Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only)Enrolling by invitationNCT02108002Phase 1
6Endolymphatic 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 TumorsCompletedNCT00001668
7Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau DiseaseCompletedNCT00970970
8Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl SystemActive, not recruitingNCT02120040
9Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau DiseaseActive, not recruitingNCT00005902
10Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease?Enrolling by invitationNCT02207686
11Bevacizumab (Avastin) in Unresectable/Recurrent Hemangioblastoma From Von-Hippel-Lindau DiseaseTerminatedNCT01015300Early Phase 1

Search NIH Clinical Center for Hemangioblastoma


Cochrane evidence based reviews: hemangioblastoma

Genetic Tests for Hemangioblastoma

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Anatomical Context for Hemangioblastoma

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MalaCards organs/tissues related to Hemangioblastoma:

35
Spinal cord, Brain, Cerebellum, Retina, Endothelial, Pituitary, Kidney

Animal Models for Hemangioblastoma or affiliated genes

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MGI Mouse Phenotypes related to Hemangioblastoma:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.1EZR, GFAP, INHA, KRT8, VEGFA, VHL
2MP:00053708.6EPO, EPOR, INHA, KRT8, MME, VEGFA
3MP:00053808.4EPO, EPOR, KRT8, PAX2, SLC2A1, VEGFA
4MP:00053858.1EPO, EPOR, GFAP, INHA, KRT8, PAX2
5MP:00053878.0EPO, EPOR, EZR, GFAP, INHA, KRT8
6MP:00028737.6EPO, EPOR, GFAP, INHA, S100B, SYP
7MP:00053767.5EPO, EPOR, GFAP, INHA, KRT8, MME
8MP:00107687.3EPO, EPOR, EZR, GFAP, INHA, KRT8

Publications for Hemangioblastoma

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Articles related to Hemangioblastoma:

(show top 50)    (show all 625)
idTitleAuthorsYear
1
Diagnosis and microsurgical treatment of spinal hemangioblastoma. (26908123)
2016
2
Refractory Orthostatic Hypotension Caused by a Recurrent Hemangioblastoma: Case Report and Review of the Literature. (27158570)
2016
3
Sporadic intramedullary hemangioblastoma of the spine: a single institutional review of 21 cases. (26355433)
2015
4
Propranolol reduces viability and induces apoptosis in hemangioblastoma cells from von Hippel-Lindau patients. (26394686)
2015
5
Spinal hemangioblastoma combined with pilocytic astrocytoma. (26166599)
2015
6
Clear Cell Renal Cell Carcinoma (ccRCC) with Hemangioblastoma-like Features: A Previously Unreported Pattern of ccRCC with Possible Clinical Significance. (24821578)
2014
7
Orthostatic hypotension following resection of a dorsal medullary hemangioblastoma. (22167348)
2012
8
Clinically unsuspected retinal hemangioblastoma in a blind eye as the initial manifestation of von Hippel-Lindau disease. (22281434)
2012
9
Manifestation of a sellar hemangioblastoma due to pituitary apoplexy: a case report. (21970745)
2011
10
Sporadic hemangioblastoma of the kidney: an underrecognized pseudomalignant tumor? (21378542)
2011
11
A^A^C-choline and F-18 FDG PET/CT images of hemangioblastoma. (21220983)
2011
12
Fluorescence diagnosis of tumor cells in hemangioblastoma cysts with 5-aminolevulinic acid. (19480541)
2010
13
Overexpression and activation of epidermal growth factor receptor in hemangioblastomas. (20730556)
2010
14
Supratentorial hemangioblastoma in the neonatal period. (19321952)
2009
15
Hemangioblastoma of the lateral ventricle. (19934579)
2009
16
Differentiation of clear cell ependymoma of the cerebellum from hemangioblastoma by thallium-201 single photon emission computed tomography-case report-. (20035139)
2009
17
Cytodiagnosis of supratentorial hemangioblastoma. (18500008)
2008
18
Hemangioblastoma of the filum terminale. Case report and review of the literature. (17725110)
2007
19
Hemangioblastoma of the optic nerve--case report. (17527048)
2007
20
Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma. (16572651)
2006
21
Stromal cells in hemangioblastoma: neuroectodermal differentiation and morphological similarities to ependymoma. (15982211)
2005
22
Capillary hemangioblastoma of soft tissue: report of a case and review of the literature. (16226115)
2005
23
Surgical management of osseous hemangioblastoma of the thoracic spine: technical case report. (16234659)
2005
24
Cranial nerve hemangioblastoma. (12691428)
2003
25
Surgical management of brainstem hemangioblastomas in patients with von Hippel-Lindau disease. (12546357)
2003
26
Diagnosis and treatment of intramedullary hemangioblastoma of cervical spinal cord. (12150732)
2002
27
Intratumoral hemorrhage due to hemangioblastoma arising from a cervical nerve root--a case report. (12604294)
2002
28
MR findings in spinal hemangioblastoma: correlation with symptoms and with angiographic and surgical findings. (11158911)
2001
29
Supratentorial hemangioblastoma in a patient with breast cancer. A case report. (11126448)
2000
30
Vascular permeability factor expression in cerebellar hemangioblastomas: correlation with tumor-associated cysts. (10222417)
1999
31
Hepatic hemangioblastoma: an unusual presentation of von Hippel-Lindau disease. (10433288)
1999
32
Hemangioblastoma of the filum terminale: MR imaging. (10470964)
1999
33
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. (9829912)
1998
34
Pathology, genetics and cell biology of hemangioblastomas. (8930647)
1996
35
Cerebellar hemangioblastoma complicating pregnancy. A case report. (8576886)
1995
36
Immunohistochemical study of basic fibroblast growth factor and erythropoietin in cerebellar hemangioblastomas. (7894620)
1994
37
Intramedullary hemorrhage in spinal cord hemangioblastoma. Report of two cases. (7965128)
1994
38
Magnetic resonance imaging and microsurgical treatment of intramedullary hemangioblastoma of the spinal cord. (7808610)
1994
39
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. (1741127)
1992
40
Cerebellar hemangioblastoma and subependymoma: a case report of an unprecedented association. (3995811)
1985
41
Juxtapapillary retinal hemangioblastoma (angiomatosis retinae) in an infant: light microscopical and ultrastructural examination. (7157495)
1982
42
Cerebellar hemangioblastoma with clear nuclei. Case report and ultrastructural study. (6894530)
1981
43
Surgical removal of hemangioblastoma in the fourth ventricle. (7191146)
1980
44
Supratentorial hemangioblastoma in childhood. (7190486)
1980
45
Fenestrated vessels in human hemangioblastoma. (4857036)
1974
46
Cerebellar hemangioblastoma with a tentorial artery supply: report of a case. (5170810)
1971
47
Hematological study on a case with cerebellar hemangioblastoma associated with erythrocytosis, with special reference to a erythropoiesis-stimulating activity present in the fluid of the cyst of tumor. (5461951)
1970
48
The association of polycythemia with a cerebellar hemangioblastoma. The production of an erythropoiesis stimulating factor by the tumor. (13782653)
1961
49
Cerebellar hemangioma (hemangioblastoma); a clinicopathological review of 40 cases. (12981570)
1952
50
Lindauvon Hippel disease with hemangioblastoma of the spinal cord and syringomyelia. (20243511)
1947

Variations for Hemangioblastoma

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Expression for genes affiliated with Hemangioblastoma

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Search GEO for disease gene expression data for Hemangioblastoma.

Pathways for genes affiliated with Hemangioblastoma

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GO Terms for genes affiliated with Hemangioblastoma

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Cellular components related to Hemangioblastoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1astrocyte projectionGO:009744910.5EZR, GFAP
2neuron projection terminusGO:00443069.6MME, SYP
3cell bodyGO:00442979.6EPO, EZR, GFAP
4vesicleGO:00319829.5EZR, MUC1, SLC2A1
5extracellular spaceGO:00056157.6EPO, EZR, INHA, MUC1, S100B, VEGFA

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1hemoglobin biosynthetic processGO:004254110.5EPO, INHA
2regulation of neuronal synaptic plasticityGO:004816810.0S100B, SYP
3regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614189.7EPO, VEGFA, VHL
4positive regulation of branching involved in ureteric bud morphogenesisGO:00901909.6PAX2, VEGFA
5regulation of cell shapeGO:00083609.1EZR, S100B, VEGFA
6epithelial cell differentiationGO:00308558.7EZR, MUC1, VEGFA
7positive regulation of cell proliferationGO:00082848.0EPO, EPOR, PAX2, S100B, VEGFA

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

idNameGO IDScoreTop Affiliating Genes
1S100 protein bindingGO:004454810.3EZR, S100B
2identical protein bindingGO:00428028.4EPOR, S100B, SLC2A1, SYP, VEGFA
3protein bindingGO:00055154.7EPO, EPOR, EZR, GFAP, INHA, KRT8

Sources for Hemangioblastoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet