MCID: HMN009
MIFTS: 43

Hemangioblastoma malady

Rare diseases, Neuronal diseases, Cancer diseases categories

Aliases & Classifications for Hemangioblastoma

About this section
Sources:
10Disease Ontology, 45NIH Rare Diseases, 47Novoseek, 51Orphanet, 65UMLS, 36MeSH, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Hemangioblastoma:

Name: Hemangioblastoma 10 45 47 51 65 36
 
Capillary Hemangioblastoma 10 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
hemangioblastoma:
Age of onset: Adult


External Ids:

Disease Ontology10 DOID:5241
NCIt42 C3801
MeSH36 D018325
SNOMED-CT59 81201000
Orphanet51 252054
UMLS via Orphanet66 C0206734

Summaries for Hemangioblastoma

About this section
NIH Rare Diseases:45 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 von hippel-lindau syndrome and renal cell carcinoma. An important gene associated with Hemangioblastoma is VHL (Von Hippel-Lindau Tumor Suppressor, E3 Ubiquitin Protein Ligase), and among its related pathways are Cellular response to hypoxia and HIF-1-alpha transcription factor network. Affiliated tissues include spinal cord, brain and retina, and related mouse phenotypes are no phenotypic analysis and liver/biliary system.

Wikipedia:68 Hemangioblastomas (capilliary hemangioblastomas) are tumors of the central nervous system that originate... more...

Related Diseases for Hemangioblastoma

About this section

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

(show top 50)    (show all 252)
idRelated DiseaseScoreTop Affiliating Genes
1von hippel-lindau syndrome31.1INHA, VEGFA, VHL
2renal cell carcinoma30.4PAX2, PAX8, SLC2A1, VEGFA, VHL
3clear cell ependymoma30.3MUC1, SYP
4adenoma30.1INHA, MUC1
5chordoma30.0GFAP, MUC1, S100B
6retinitis10.6
7retinal hemangioblastoma10.6
8endotheliitis10.5
9cervicitis10.5
10pheochromocytoma10.4
11clear cell renal cell carcinoma10.4
12cerebritis10.4
13polycythemia10.4
14hemangioma10.3
15angiomatosis10.3
16cheek mucosa cancer10.3EZR, GFAP
17cutaneous paget's disease10.3GFAP, SYP
18adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency10.3INHA, SYP
19desmoplastic small round cell tumor10.3GFAP, SYP
20pineal parenchymal tumor of intermediate differenciation10.3GFAP, SYP
21syringomyelia10.3
22aneurysm10.3
23ureter small cell carcinoma10.3GFAP, SYP
24lung hilum cancer10.3GFAP, SYP
25chiari malformation type 110.3GFAP, SYP
26monophasic synovial sarcoma10.3GFAP, SYP
27hantavirus pulmonary syndrome10.3GFAP, SYP
28central nervous system sarcoma10.3GFAP, SYP
29cerebral arterial disease10.3GFAP, SYP
30subglottis squamous cell carcinoma10.3GFAP, SYP
31carotenemia10.3GFAP, SYP
32subpulmonary stenosis10.3GFAP, SYP
33rosette-forming glioneuronal tumor of fourth ventricule10.3GFAP, SYP
34ovary adenocarcinoma10.3INHA, SYP
35benign mediastinal neurilemmoma10.3GFAP, SYP
36cerebrovascular disease10.3GFAP, SYP
37oligodendroglioma10.3GFAP, SYP
38supine hypotensive syndrome10.3GFAP, SYP
39cervical adenitis10.3GFAP, SYP
40pineal region teratoma10.3GFAP, SYP
41vulvar inverted follicular keratosis10.3GFAP, SYP
42gallbladder endocrine tumor10.3S100B, SYP
43fallopian tube adenosarcoma10.3INHA, SYP
44survival motor neuron spinal muscular atrophy10.3GFAP, SYP
45headache10.3GFAP, S100B
46impaired renal function disease10.3INHA, SYP
47hypogonadism cardiomyopathy10.3S100B, SYP
48fatal infantile encephalocardiomyopathy10.3GFAP, SYP
49progesterone-receptor positive breast cancer10.2GFAP, SYP
50spinal cord oligodendroglioma10.2GFAP, SYP

Graphical network of the top 20 diseases related to Hemangioblastoma:



Diseases related to hemangioblastoma

Symptoms for Hemangioblastoma

About this section

Drugs & Therapeutics for Hemangioblastoma

About this section

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sunitinibapproved, investigationalPhase 2472341031-54-7, 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
Sunitinib malate (JAN/USAN)
Sunitinib malate [USAN]
Sunitinibum
Sutent
Sutent (TN)
Sutent, SU-11248
TL8002546
UNII-LVX8N1UT73
UNII-V99T50803M
sunitinib
sunitinibum
2
PancrelipaseapprovedPhase 283953608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
3
VatalanibinvestigationalPhase 239212141-54-3151194
Synonyms:
1-(4-chloroanilino)-4-(4-pyridylmethyl)phthalazine succinate
CGP79787
PTK 787
 
PTK/ZK
PTK787
PTK787/ZK 222584
ZK222584
vatalanib
4pancreatinPhase 2839
5
Vorinostatapproved, investigationalPhase 1234149647-78-95311
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
6
Bevacizumabapproved, investigationalPhase 01820216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab

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
3Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to FollowTerminatedNCT00330564Phase 2
4TKI 258 in Von Hippel-Lindau Syndrome (VHL)TerminatedNCT01266070Phase 2
5Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only)Enrolling by invitationNCT02108002Phase 1
6Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau DiseaseCompletedNCT00970970
7Endolymphatic 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
8Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a h├ęmangioblastoma 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 DiseaseTerminatedNCT01015300Phase 0

Search NIH Clinical Center for Hemangioblastoma


Cochrane evidence based reviews: Hemangioblastoma

Genetic Tests for Hemangioblastoma

About this section

Anatomical Context for Hemangioblastoma

About this section

MalaCards organs/tissues related to Hemangioblastoma:

33
Spinal cord, Brain, Retina, Cerebellum, Eye, Endothelial, Pituitary

Animal Models for Hemangioblastoma or affiliated genes

About this section

MGI Mouse Phenotypes related to Hemangioblastoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.4EPOR, MUC1, PAX8, SLC2A1, SYP, VEGFA
2MP:00053708.3EPO, EPOR, INHA, KRT8, MUC1, VEGFA
3MP:00053818.2EZR, GFAP, INHA, KRT8, MUC1, VEGFA
4MP:00028737.5EPO, EPOR, GFAP, INHA, MUC1, S100B
5MP:00053847.4EPO, EPOR, GFAP, PAX2, PAX8, SLC2A1
6MP:00053787.2EPOR, EZR, GFAP, INHA, KRT8, PAX8
7MP:00053857.0EPO, EPOR, GFAP, INHA, KRT8, PAX2
8MP:00053766.9EPO, EPOR, EZR, GFAP, INHA, MUC1
9MP:00053806.8EPO, EPOR, EZR, KRT8, PAX2, PAX8
10MP:00107686.2EPO, EPOR, EZR, GFAP, INHA, KRT8

Publications for Hemangioblastoma

About this section

Articles related to Hemangioblastoma:

(show top 50)    (show all 580)
idTitleAuthorsYear
1
Sporadic intramedullary hemangioblastoma of the spine: a single institutional review of 21 cases. (26355433)
2015
2
Propranolol reduces viability and induces apoptosis in hemangioblastoma cells from von Hippel-Lindau patients. (26394686)
2015
3
Spinal hemangioblastoma combined with pilocytic astrocytoma. (26166599)
2015
4
A case of cerebellar hemangioblastoma with rhabdoid features. (24880233)
2014
5
In vivo and ex vivo magnetic resonance spectroscopy in the characterization of hemangioblastoma cyst fluid. (24424553)
2014
6
Supratentorial hemangioblastoma with unusual features. (25588642)
2014
7
Hemangioblastoma of the gastrointestinal tract: a first case. (23516170)
2013
8
Von hippel-lindau syndrome: diagnosis and management of hemangioblastoma and pheochromocytoma. (23781388)
2013
9
Bilateral cerebellar epithelioid hemangioblastoma with possible ependymal differentiation in a patient with von Hippel-Lindau disease. (22364576)
2012
10
Pazopanib therapy for cerebellar hemangioblastomas in von Hippel-Lindau disease: case report. (22374327)
2012
11
Spinal cord hemangioblastomas in von hippel-lindau disease: management of asymptomatic and symptomatic tumors. (23074104)
2012
12
Adrenal haemangioblastoma presenting as phaeochromocytoma: a rare manifestation of extraneural hemangioblastoma. (22544391)
2012
13
Manifestation of a sellar hemangioblastoma due to pituitary apoplexy: a case report. (21970745)
2011
14
Sporadic hemangioblastoma of the kidney: an underrecognized pseudomalignant tumor? (21378542)
2011
15
Fluorescence diagnosis of tumor cells in hemangioblastoma cysts with 5-aminolevulinic acid. (19480541)
2010
16
Overexpression and activation of epidermal growth factor receptor in hemangioblastomas. (20730556)
2010
17
Expression of CXCR4 and VEGF in hemangioblastomas of the central nervous system and its relation to tumor angiogenesis]. (20629312)
2010
18
Supratentorial hemangioblastoma in the neonatal period. (19321952)
2009
19
Cerebellar hemangioblastoma manifesting as hearing disturbance. (19779288)
2009
20
Hemangioblastoma of the lateral ventricle. (19934579)
2009
21
Intraspinal hemangioblastoma: analysis of 22 cases. (18501608)
2008
22
Hemangioblastoma of the filum terminale. Case report and review of the literature. (17725110)
2007
23
Stromal cells in hemangioblastoma: neuroectodermal differentiation and morphological similarities to ependymoma. (15982211)
2005
24
Capillary hemangioblastoma of soft tissue: report of a case and review of the literature. (16226115)
2005
25
Challenging manifestations of malignancies. Case 1. Polycythemia and high serum erythropoietin level as a result of hemangioblastoma. (15337812)
2004
26
The natural history of cerebellar hemangioblastomas in von Hippel-Lindau disease. (13679272)
2003
27
Treatment of intramedullary hemangioblastomas, with special attention to von Hippel-Lindau disease. (14633297)
2003
28
Diagnosis and treatment of intramedullary hemangioblastoma of cervical spinal cord. (12150732)
2002
29
Suprasellar hemangioblastoma in a patient with von Hippel-Lindau disease confirmed by germline mutation study: case report and review of the literature. (11546565)
2001
30
Transthyretin and transferrin in hemangioblastoma stromal cells. (11087054)
2000
31
Supratentorial hemangioblastoma in a patient with breast cancer. A case report. (11126448)
2000
32
Vascular permeability factor expression in cerebellar hemangioblastomas: correlation with tumor-associated cysts. (10222417)
1999
33
Metastasis of renal carcinoma to a cerebellar hemangioblastoma in a patient with von Hippel Lindau disease: a case report. (10616572)
1999
34
Treatment of hemangioblastomas in von Hippel-Lindau disease with linear accelerator-based radiosurgery. (9657185)
1998
35
Successful removal of a hemangioblastoma from the medulla oblongata: case report. (10074742)
1998
36
Pathology, genetics and cell biology of hemangioblastomas. (8930647)
1996
37
Cerebellar hemangioblastoma complicating pregnancy. A case report. (8576886)
1995
38
Hemangioblastoma of the IV ventricle. (7585692)
1995
39
Immunohistochemical study of basic fibroblast growth factor and erythropoietin in cerebellar hemangioblastomas. (7894620)
1994
40
Intramedullary hemorrhage in spinal cord hemangioblastoma. Report of two cases. (7965128)
1994
41
Hemangioblastomas of the central nervous system--immunohistochemical and ultrastructural study. (1700315)
1990
42
Erythropoietin in capillary hemangioblastoma. An immunohistochemical study. (3318272)
1987
43
Cerebellar hemangioblastoma and subependymoma: a case report of an unprecedented association. (3995811)
1985
44
Cerebellar hemangioblastoma with clear nuclei. Case report and ultrastructural study. (6894530)
1981
45
Effect of radiation therapy on hemangioblastoma: a case report and review of the literature. (7354902)
1980
46
Surgical removal of hemangioblastoma in the fourth ventricle. (7191146)
1980
47
Supratentorial hemangioblastoma in childhood. (7190486)
1980
48
Solid cerebellar hemangioblastoma. (4542349)
1973
49
Cerebellar hemangioblastoma with a tentorial artery supply: report of a case. (5170810)
1971
50
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

Variations for Hemangioblastoma

About this section

Expression for genes affiliated with Hemangioblastoma

About this section
Search GEO for disease gene expression data for Hemangioblastoma.

Pathways for genes affiliated with Hemangioblastoma

About this section

GO Terms for genes affiliated with Hemangioblastoma

About this section

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

idNameGO IDScoreTop Affiliating Genes
1vesicleGO:00319829.8EZR, MUC1, SLC2A1
2extracellular spaceGO:00056157.9EPO, EZR, INHA, MUC1, S100B, VEGFA

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1hemoglobin biosynthetic processGO:004254110.5EPO, INHA
2positive regulation of protein localization to early endosomeGO:190296610.1EZR, VEGFA
3regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614189.8EPO, VEGFA, VHL
4pronephric field specificationGO:00390039.6PAX2, PAX8
5positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesisGO:00721089.6PAX2, PAX8
6metanephric nephron tubule formationGO:00722899.6PAX2, PAX8
7negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesisGO:00723059.6PAX2, PAX8
8negative regulation of mesenchymal cell apoptotic process involved in metanephros developmentGO:19002129.6PAX2, PAX8
9negative regulation of apoptotic process involved in metanephric collecting duct developmentGO:19002159.6PAX2, PAX8
10negative regulation of apoptotic process involved in metanephric nephron tubule developmentGO:19002189.6PAX2, PAX8
11positive regulation of metanephric DCT cell differentiationGO:20005949.6PAX2, PAX8
12urogenital system developmentGO:00016559.6PAX2, PAX8
13mesenchymal to epithelial transition involved in metanephros morphogenesisGO:00033379.6PAX2, PAX8
14regulation of metanephric nephron tubule epithelial cell differentiationGO:00723079.6PAX2, PAX8
15metanephric epithelium developmentGO:00722079.6PAX2, PAX8
16mesonephros developmentGO:00018239.5PAX2, PAX8
17regulation of neuronal synaptic plasticityGO:00481689.5S100B, SYP
18metanephric distal convoluted tubule developmentGO:00722219.5PAX2, PAX8
19pronephros developmentGO:00487939.4PAX2, PAX8
20epithelial cell differentiationGO:00308559.1EZR, MUC1, VEGFA
21positive regulation of branching involved in ureteric bud morphogenesisGO:00901909.1PAX2, PAX8, VEGFA
22regulation of cell shapeGO:00083608.9EZR, S100B, VEGFA
23cellular response to hypoxiaGO:00714568.5EPO, S100B, VEGFA, VHL

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

idNameGO IDScoreTop Affiliating Genes
1S100 protein bindingGO:004454810.2EZR, S100B
2identical protein bindingGO:00428028.7EPOR, S100B, SLC2A1, SYP, VEGFA
3protein bindingGO:00055154.7EPO, EPOR, EZR, GFAP, INHA, KRT8

Sources for Hemangioblastoma

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet