MCID: HMN009
MIFTS: 54

Hemangioblastoma malady

Rare diseases, Neuronal diseases, Cancer diseases categories

Summaries for Hemangioblastoma

About this section
Sources:
44NIH Rare Diseases, 66Wikipedia, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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 erythrocytosis. An important gene associated with Hemangioblastoma is VHL (von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase), and among its related pathways are Signaling events mediated by VEGFR1 and VEGFR2 and Regulation of Hypoxia-inducible Factor (HIF) by Oxygen. The compounds sunitinib and lenalidomide have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and retina, and related mouse phenotypes are tumorigenesis and digestive/alimentary.

Wikipedia:66 Hemangioblastomas (capilliary hemangioblastomas) are tumors of the central nervous system that originate... more...

Aliases & Classifications for Hemangioblastoma

About this section
Sources:
9Disease Ontology, 44NIH Rare Diseases, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 64UMLS via Orphanet, 60SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
hemangioblastoma:
Age of onset: Adulthood


Aliases & Descriptions:

hemangioblastoma 9 44 46 50 63
capillary hemangioblastoma 9 44


External Ids:

Disease Ontology9 DOID:5241
NCIt41 C3801
MeSH36 D018325
SNOMED-CT59 81201000
UMLS via Orphanet64 C0206734
SNOMED-CT via Orphanet60 81201000

Related Diseases for Hemangioblastoma

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1von hippel-lindau disease31.4INHA, VEGFA, VHL
2erythrocytosis30.6EPOR, VHL
3polycythemia30.6EPOR, VHL
4pheochromocytoma30.6VHL, EPOR, INHA
5hemangioma30.3SLC2A1, VHL, VEGFA
6meningioma30.2SLC2A1, S100B, MUC1, INHA
7ependymoma30.1MUC1, NES, S100B
8hemangiopericytoma30.1MUC1, S100B
9capillary hemangioma30.0SLC2A1
10glioblastoma multiforme29.9VEGFA, NES, VHL
11anaplastic astrocytoma29.9NES, VEGFA
12choroid plexus papilloma29.9MUC1, S100B
13pilocytic astrocytoma29.8S100B, NES
14astrocytoma29.8INHA, VEGFA, EPOR, NES, VHL, S100B
15breast cancer29.8VEGFA, EPOR, MUC1, SLC2A1
16adenoma29.7INHA, MUC1, NES, VHL, SLC2A1
17renal clear cell carcinoma29.7INHA, VEGFA, EPOR, MUC1, VHL, SLC2A1
18malignant glioma29.6VEGFA, EPOR, NES, VHL, S100B, SLC2A1
19retinitis10.5
20renal cell carcinoma10.5
21retinal hemangioblastoma10.5
22endotheliitis10.5
23cervicitis10.4
24cerebritis10.3
25clear cell renal cell carcinoma10.3
26syringomyelia10.2
27angiomatosis10.2
28mutism10.1
29hydrocephalus10.1
30hypertension10.1
31aneurysm10.1
32glomus tumor10.1VHL
33kidney cancer10.1VEGFA, VHL
34primary polycythemia10.1EPOR, VHL
35cystadenoma10.1INHA, VHL
36acoustic neuroma10.1EPOR, VHL
37primary hyperoxaluria10.1EPOR, VEGFA
38peutz-jeghers syndrome10.1INHA, VHL
39vascular cancer10.1VHL, SLC2A1
40ganglioglioma10.1S100B
41cerebellar angioblastoma10.0
42brain stem angioblastoma10.0
43clear cell ependymoma10.0
44arteriovenous malformation10.0
45primary hyperparathyroidism10.0
46hepatitis10.0
47hyperparathyroidism10.0
48meningitis10.0
49retinal detachment10.0
50hemangioblastoma, cerebellar, somatic10.0

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
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

About this section

Anatomical Context for Hemangioblastoma

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Hemangioblastoma:

34
Spinal cord, Brain, Retina, Cerebellum, Eye, Endothelial, Pituitary, Kidney, Medulla oblongata, Pineal, Breast, Skin, Bone, Pons, Lung

Animal Models for Hemangioblastoma or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Hemangioblastoma:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.9INHA, VEGFA, MUC1, VHL
2MP:00053818.7INHA, VEGFA, MUC1, VHL
3MP:00030128.6SLC2A1, MUC1, EPOR, VEGFA
4MP:00053708.5INHA, VEGFA, EPOR, MUC1, VHL
5MP:00053808.5VEGFA, EPOR, NES, VHL, SLC2A1
6MP:00053798.4INHA, VEGFA, MUC1, VHL
7MP:00107718.3S100B, VHL, MUC1, VEGFA
8MP:00053848.2SLC2A1, VHL, NES, EPOR, VEGFA
9MP:00053788.0INHA, VEGFA, EPOR, NES, VHL, SLC2A1
10MP:00107688.0INHA, VEGFA, EPOR, NES, VHL, SLC2A1
11MP:00053767.9INHA, VEGFA, EPOR, MUC1, VHL, SLC2A1
12MP:00028737.7S100B, VHL, MUC1, EPOR, VEGFA, INHA

Publications for Hemangioblastoma

About this section
Sources:
53PubMed
See all sources

Articles related to Hemangioblastoma:

(show top 50)    (show all 516)
idTitleAuthorsYear
1
In vivo and ex vivo magnetic resonance spectroscopy in the characterization of hemangioblastoma cyst fluid. (24424553)
2014
2
Hemangioblastoma of the gastrointestinal tract: a first case. (23516170)
2013
3
Von hippel-lindau syndrome: diagnosis and management of hemangioblastoma and pheochromocytoma. (23781388)
2013
4
Bilateral cerebellar epithelioid hemangioblastoma with possible ependymal differentiation in a patient with von Hippel-Lindau disease. (22364576)
2012
5
Pazopanib therapy for cerebellar hemangioblastomas in von Hippel-Lindau disease: case report. (22374327)
2012
6
Spinal cord hemangioblastomas in von hippel-lindau disease: management of asymptomatic and symptomatic tumors. (23074104)
2012
7
Adrenal haemangioblastoma presenting as phaeochromocytoma: a rare manifestation of extraneural hemangioblastoma. (22544391)
2012
8
Manifestation of a sellar hemangioblastoma due to pituitary apoplexy: a case report. (21970745)
2011
9
Sporadic hemangioblastoma of the kidney: an underrecognized pseudomalignant tumor? (21378542)
2011
10
Fluorescence diagnosis of tumor cells in hemangioblastoma cysts with 5-aminolevulinic acid. (19480541)
2010
11
Overexpression and activation of epidermal growth factor receptor in hemangioblastomas. (20730556)
2010
12
Expression of CXCR4 and VEGF in hemangioblastomas of the central nervous system and its relation to tumor angiogenesis]. (20629312)
2010
13
Supratentorial hemangioblastoma in the neonatal period. (19321952)
2009
14
Cerebellar hemangioblastoma manifesting as hearing disturbance. (19779288)
2009
15
Hemangioblastoma of the lateral ventricle. (19934579)
2009
16
Intraspinal hemangioblastoma: analysis of 22 cases. (18501608)
2008
17
Hemangioblastoma of the filum terminale. Case report and review of the literature. (17725110)
2007
18
Cerebellar and multiple spinal hemangioblastomas and intraventricular meningioma managed with subtotal resection and external beam radiotherapy; report of a case with literature review. (17357198)
2005
19
Stromal cells in hemangioblastoma: neuroectodermal differentiation and morphological similarities to ependymoma. (15982211)
2005
20
Capillary hemangioblastoma of soft tissue: report of a case and review of the literature. (16226115)
2005
21
Challenging manifestations of malignancies. Case 1. Polycythemia and high serum erythropoietin level as a result of hemangioblastoma. (15337812)
2004
22
The natural history of cerebellar hemangioblastomas in von Hippel-Lindau disease. (13679272)
2003
23
Treatment of intramedullary hemangioblastomas, with special attention to von Hippel-Lindau disease. (14633297)
2003
24
Diagnosis and treatment of intramedullary hemangioblastoma of cervical spinal cord. (12150732)
2002
25
A case of von Hippel-Lindau disease with bilateral pheochromocytoma, renal cell carcinoma, pelvic tumor, spinal hemangioblastoma and primary hyperparathyroidism. (12081237)
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
Transthyretin and transferrin in hemangioblastoma stromal cells. (11087054)
2000
28
Supratentorial hemangioblastoma in a patient with breast cancer. A case report. (11126448)
2000
29
Vascular permeability factor expression in cerebellar hemangioblastomas: correlation with tumor-associated cysts. (10222417)
1999
30
Metastasis of renal carcinoma to a cerebellar hemangioblastoma in a patient with von Hippel Lindau disease: a case report. (10616572)
1999
31
Treatment of hemangioblastomas in von Hippel-Lindau disease with linear accelerator-based radiosurgery. (9657185)
1998
32
Successful removal of a hemangioblastoma from the medulla oblongata: case report. (10074742)
1998
33
Pathology, genetics and cell biology of hemangioblastomas. (8930647)
1996
34
Cerebellar hemangioblastoma complicating pregnancy. A case report. (8576886)
1995
35
Hemangioblastoma of the IV ventricle. (7585692)
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
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. (1741127)
1992
39
Hemangioblastomas of the central nervous system--immunohistochemical and ultrastructural study. (1700315)
1990
40
Erythropoietin in capillary hemangioblastoma. An immunohistochemical study. (3318272)
1987
41
Cerebellar hemangioblastoma and subependymoma: a case report of an unprecedented association. (3995811)
1985
42
Ultrastructure of cerebellar capillary hemangioblastoma. III. Crystalloid bodies in endothelial cells. (2990140)
1985
43
Cerebellar hemangioblastoma with clear nuclei. Case report and ultrastructural study. (6894530)
1981
44
Effect of radiation therapy on hemangioblastoma: a case report and review of the literature. (7354902)
1980
45
Surgical removal of hemangioblastoma in the fourth ventricle. (7191146)
1980
46
Supratentorial hemangioblastoma in childhood. (7190486)
1980
47
Cerebellar capillary hemangioblastoma: its histogenesis studied by organ culture and electron microscopy. (163132)
1975
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
Sources:
2BioGPS, 16Gene 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

About this section
Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 31KEGG
See all sources

Compounds for genes affiliated with Hemangioblastoma

About this section
Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 25HMDB
See all sources

Compounds related to Hemangioblastoma according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1sunitinib46 52 1212.1VEGFA, VHL
2lenalidomide46 1211.0VEGFA, EPOR
3sorafenib46 52 1211.9VHL, VEGFA
4pimonidazole469.9SLC2A1, EPOR
5temozolomide46 1210.9VEGFA, NES
6cobalt chloride469.7SLC2A1, VHL, VEGFA
7trastuzumab46 52 1211.5VEGFA, MUC1
8rapamycin469.5SLC2A1, VHL, VEGFA
9eosin469.4S100B, MUC1
10s 100469.4MUC1, S100B
11reticulin469.4S100B, MUC1
12mucicarmine469.4MUC1, S100B
13tunicamycin46 6210.4EPOR, SLC2A1
14b 723469.3S100B, MUC1
155fluorouracil469.3VEGFA, MUC1, SLC2A1
16matrigel469.3NES, MUC1, VEGFA
17pioglitazone30 46 52 1212.3SLC2A1, VEGFA
18agar469.2SLC2A1, MUC1, EPOR
19ribonucleic acid469.2INHA, MUC1, SLC2A1
20ly294002469.2SLC2A1, VHL, EPOR, VEGFA
21proline469.1S100B, VHL, EPOR
22iron46 2510.1EPOR, VHL, S100B
23hematoxylin469.1INHA, MUC1, S100B
24agarose469.0S100B, MUC1, INHA
25acth469.0S100B, MUC1, INHA
26gaba469.0NES, S100B, SLC2A1
27wortmannin468.9EPOR, S100B, SLC2A1
28cisplatin46 52 62 1211.9VEGFA, EPOR, MUC1, SLC2A1
29pyruvate468.9SLC2A1, S100B, MUC1
30dopamine46 30 25 1211.8NES, S100B, SLC2A1
31heparin46 30 25 1211.8SLC2A1, S100B, VEGFA
32thymidine46 259.7S100B, MUC1, EPOR
33cyclic amp46 259.6S100B, MUC1, INHA
34alanine468.6INHA, EPOR, S100B, SLC2A1
35actinomycin d468.6VEGFA, EPOR, MUC1, VHL, SLC2A1
36glycogen46 259.6MUC1, VHL, S100B, SLC2A1
37forskolin46 52 1210.5INHA, MUC1, S100B, SLC2A1
38dexamethasone46 52 30 1211.5VEGFA, MUC1, S100B, SLC2A1
39progesterone46 30 62 25 1212.5S100B, NES, MUC1, INHA
40glutamate468.5SLC2A1, S100B, NES, EPOR
41cysteine468.3EPOR, MUC1, S100B, SLC2A1
42lipid468.3S100B, NES, MUC1, EPOR
43nitric oxide46 25 1210.1EPOR, MUC1, NES, VHL, S100B
44serine468.1EPOR, MUC1, VHL, S100B, SLC2A1
45oxygen46 258.6EPOR, MUC1, NES, VHL, S100B, SLC2A1
46glucose467.6EPOR, MUC1, NES, VHL, S100B, SLC2A1
47vegf467.3VEGFA, EPOR, MUC1, NES, VHL, S100B
48paraffin467.2SLC2A1, INHA, VEGFA, EPOR, MUC1, NES
49estrogen466.9INHA, VEGFA, EPOR, MUC1, NES, VHL
50tyrosine466.8INHA, VEGFA, EPOR, MUC1, NES, VHL

GO Terms for genes affiliated with Hemangioblastoma

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Hemangioblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeletonGO:0451119.3VHL, NES
2extracellular regionGO:0055768.4S100B, EPOR, VEGFA, INHA

Biological processes related to Hemangioblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ovarian follicle developmentGO:0015419.7VEGFA, INHA
2regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:0614189.5VHL, VEGFA
3cellular response to hypoxiaGO:0714568.8S100B, VHL, VEGFA

Molecular functions related to Hemangioblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428028.0SLC2A1, S100B, EPOR, VEGFA
2protein bindingGO:0055156.9VEGFA, EPOR, MUC1, VHL, S100B, SLC2A1

Products for genes affiliated with Hemangioblastoma

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemangioblastoma

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet