MCID: HMN009
MIFTS: 47

Hemangioblastoma malady

Rare diseases, Neuronal diseases, Cancer diseases categories

Summaries for Hemangioblastoma

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NIH Rare Diseases:41 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 renal cell carcinoma and von hippel-lindau syndrome. 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:63 Hemangioblastomas (capilliary hemangioblastomas) are tumors of the central nervous system that originate... more...

Aliases & Classifications for Hemangioblastoma

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 33MeSH, 38NCIt, 55SNOMED-CT, 61UMLS via Orphanet
See all sources

Hemangioblastoma, Aliases & Descriptions:

Name: Hemangioblastoma 9 41 43 47 60
 
Capillary Hemangioblastoma 9 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
hemangioblastoma:
Age of onset: Adult


External Ids:

Disease Ontology9 DOID:5241
MeSH33 D018325
NCIt38 C3801
SNOMED-CT55 81201000
Orphanet47 252054
UMLS via Orphanet61 C0206734

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 136)
idRelated DiseaseScoreTop Affiliating Genes
1renal cell carcinoma31.4VEGFA, VHL
2von hippel-lindau syndrome31.1INHA, VEGFA, VHL
3polycythemia30.9EPOR, VHL
4pheochromocytoma30.8VHL, EPOR, INHA
5hemangioma30.5SLC2A1, VHL, VEGFA
6capillary hemangioma30.5SLC2A1
7hemangiopericytoma30.1MUC1, S100B
8ependymoma30.0MUC1, NES, S100B
9glioblastoma multiforme30.0VEGFA, NES, VHL
10choroid plexus papilloma29.9MUC1, S100B
11pilocytic astrocytoma29.9S100B, NES
12breast cancer29.5VEGFA, EPOR, MUC1, SLC2A1
13adenoma29.3INHA, MUC1, NES, VHL, SLC2A1
14glioblastoma29.2VEGFA, NES, VHL, S100B, SLC2A1
15renal clear cell carcinoma29.1INHA, VEGFA, EPOR, MUC1, VHL, SLC2A1
16malignant glioma28.9VEGFA, EPOR, NES, VHL, S100B, SLC2A1
17astrocytoma28.9INHA, VEGFA, EPOR, NES, VHL, S100B
18adenocarcinoma28.8INHA, VEGFA, EPOR, MUC1, NES, VHL
19retinitis10.6
20retinal hemangioblastoma10.5
21glomus tumor10.5VHL
22endotheliitis10.5
23cervicitis10.5
24cerebritis10.4
25clear cell renal cell carcinoma10.3
26primary polycythemia10.3EPOR, VHL
27aneurysm10.3
28cystadenoma10.3INHA, VHL
29acoustic neuroma10.3EPOR, VHL
30kidney disease10.3EPOR, VEGFA
31peutz-jeghers syndrome10.3INHA, VHL
32vascular cancer10.3VHL, SLC2A1
33ganglioglioma10.3S100B
34syringomyelia10.3
35angiomatosis10.2
36adrenal cortical adenoma10.2INHA, VHL
37sertoli-leydig cell tumor10.2INHA, MUC1
38kidney cancer10.2VHL, VEGFA
39sertoli cell tumor10.2INHA, MUC1
40abrikosov's tumor10.2INHA, MUC1
41hydrocephalus10.2
42mutism10.2
43primary hyperparathyroidism10.2
44hyperparathyroidism10.2
45meningitis10.2
46papillary adenocarcinoma10.2SLC2A1, MUC1
47endometrial cancer10.1INHA, MUC1
48granular cell tumor10.1S100B, INHA
49grade iii astrocytoma10.1NES, VEGFA
50microvascular complications of diabetes 510.1SLC2A1, VEGFA

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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Drug clinical trials:

Search ClinicalTrials for Hemangioblastoma

Search NIH Clinical Center for Hemangioblastoma

Genetic Tests for Hemangioblastoma

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Anatomical Context for Hemangioblastoma

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MalaCards organs/tissues related to Hemangioblastoma:

31
Spinal cord, Brain, Retina, Cerebellum, Eye, Endothelial, Pituitary, Kidney, Medulla oblongata, Lung, Pineal, Bone, Breast, Skin, Pons

Animal Models for Hemangioblastoma or affiliated genes

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MGI Mouse Phenotypes related to Hemangioblastoma:

35 (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

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Articles related to Hemangioblastoma:

(show top 50)    (show all 560)
idTitleAuthorsYear
1
A case of cerebellar hemangioblastoma with rhabdoid features. (24880233)
2014
2
In vivo and ex vivo magnetic resonance spectroscopy in the characterization of hemangioblastoma cyst fluid. (24424553)
2014
3
Supratentorial hemangioblastoma with unusual features. (25588642)
2014
4
Hemangioblastoma of the gastrointestinal tract: a first case. (23516170)
2013
5
Von hippel-lindau syndrome: diagnosis and management of hemangioblastoma and pheochromocytoma. (23781388)
2013
6
Bilateral cerebellar epithelioid hemangioblastoma with possible ependymal differentiation in a patient with von Hippel-Lindau disease. (22364576)
2012
7
Pazopanib therapy for cerebellar hemangioblastomas in von Hippel-Lindau disease: case report. (22374327)
2012
8
Spinal cord hemangioblastomas in von hippel-lindau disease: management of asymptomatic and symptomatic tumors. (23074104)
2012
9
Adrenal haemangioblastoma presenting as phaeochromocytoma: a rare manifestation of extraneural hemangioblastoma. (22544391)
2012
10
Manifestation of a sellar hemangioblastoma due to pituitary apoplexy: a case report. (21970745)
2011
11
Sporadic hemangioblastoma of the kidney: an underrecognized pseudomalignant tumor? (21378542)
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
Expression of CXCR4 and VEGF in hemangioblastomas of the central nervous system and its relation to tumor angiogenesis]. (20629312)
2010
15
Supratentorial hemangioblastoma in the neonatal period. (19321952)
2009
16
Cerebellar hemangioblastoma manifesting as hearing disturbance. (19779288)
2009
17
Hemangioblastoma of the lateral ventricle. (19934579)
2009
18
Intraspinal hemangioblastoma: analysis of 22 cases. (18501608)
2008
19
Hemangioblastoma of the filum terminale. Case report and review of the literature. (17725110)
2007
20
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
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
Challenging manifestations of malignancies. Case 1. Polycythemia and high serum erythropoietin level as a result of hemangioblastoma. (15337812)
2004
24
The natural history of cerebellar hemangioblastomas in von Hippel-Lindau disease. (13679272)
2003
25
Treatment of intramedullary hemangioblastomas, with special attention to von Hippel-Lindau disease. (14633297)
2003
26
Diagnosis and treatment of intramedullary hemangioblastoma of cervical spinal cord. (12150732)
2002
27
A case of von Hippel-Lindau disease with bilateral pheochromocytoma, renal cell carcinoma, pelvic tumor, spinal hemangioblastoma and primary hyperparathyroidism. (12081237)
2002
28
Suprasellar hemangioblastoma in a patient with von Hippel-Lindau disease confirmed by germline mutation study: case report and review of the literature. (11546565)
2001
29
Transthyretin and transferrin in hemangioblastoma stromal cells. (11087054)
2000
30
Supratentorial hemangioblastoma in a patient with breast cancer. A case report. (11126448)
2000
31
Vascular permeability factor expression in cerebellar hemangioblastomas: correlation with tumor-associated cysts. (10222417)
1999
32
Metastasis of renal carcinoma to a cerebellar hemangioblastoma in a patient with von Hippel Lindau disease: a case report. (10616572)
1999
33
Treatment of hemangioblastomas in von Hippel-Lindau disease with linear accelerator-based radiosurgery. (9657185)
1998
34
Successful removal of a hemangioblastoma from the medulla oblongata: case report. (10074742)
1998
35
Pathology, genetics and cell biology of hemangioblastomas. (8930647)
1996
36
Cerebellar hemangioblastoma complicating pregnancy. A case report. (8576886)
1995
37
Hemangioblastoma of the IV ventricle. (7585692)
1995
38
Immunohistochemical study of basic fibroblast growth factor and erythropoietin in cerebellar hemangioblastomas. (7894620)
1994
39
Intramedullary hemorrhage in spinal cord hemangioblastoma. Report of two cases. (7965128)
1994
40
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. (1741127)
1992
41
Hemangioblastomas of the central nervous system--immunohistochemical and ultrastructural study. (1700315)
1990
42
Cerebellar hemangioblastoma and subependymoma: a case report of an unprecedented association. (3995811)
1985
43
Ultrastructure of cerebellar capillary hemangioblastoma. III. Crystalloid bodies in endothelial cells. (2990140)
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

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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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Compounds for genes affiliated with Hemangioblastoma

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Compounds related to Hemangioblastoma according to GeneCards Suite gene sharing:

(show all 50)
idCompoundScoreTop Affiliating Genes
1sunitinib43 49 1212.1VEGFA, VHL
2lenalidomide43 1211.0VEGFA, EPOR
3sorafenib43 49 1211.9VHL, VEGFA
4pimonidazole439.9SLC2A1, EPOR
5temozolomide43 1210.9VEGFA, NES
6cobalt chloride439.7SLC2A1, VHL, VEGFA
7trastuzumab43 49 1211.5VEGFA, MUC1
8rapamycin439.5SLC2A1, VHL, VEGFA
9eosin439.4S100B, MUC1
10s 100439.4MUC1, S100B
11reticulin439.4S100B, MUC1
12mucicarmine439.4MUC1, S100B
13tunicamycin43 5910.4EPOR, SLC2A1
14b 723439.3S100B, MUC1
155fluorouracil439.3VEGFA, MUC1, SLC2A1
16matrigel439.3NES, MUC1, VEGFA
17pioglitazone28 43 49 1212.3SLC2A1, VEGFA
18agar439.2SLC2A1, MUC1, EPOR
19ribonucleic acid439.2INHA, MUC1, SLC2A1
20ly294002439.2SLC2A1, VHL, EPOR, VEGFA
21proline439.1S100B, VHL, EPOR
22iron43 2410.1EPOR, VHL, S100B
23hematoxylin439.1INHA, MUC1, S100B
24agarose439.0S100B, MUC1, INHA
25acth439.0S100B, MUC1, INHA
26gaba439.0NES, S100B, SLC2A1
27wortmannin438.9EPOR, S100B, SLC2A1
28cisplatin43 49 59 1211.9VEGFA, EPOR, MUC1, SLC2A1
29pyruvate438.9SLC2A1, S100B, MUC1
30dopamine43 28 24 1211.8NES, S100B, SLC2A1
31heparin43 28 24 1211.8SLC2A1, S100B, VEGFA
32thymidine43 249.7S100B, MUC1, EPOR
33cyclic amp43 249.6S100B, MUC1, INHA
34alanine438.6INHA, EPOR, S100B, SLC2A1
35actinomycin d438.6VEGFA, EPOR, MUC1, VHL, SLC2A1
36glycogen43 249.6MUC1, VHL, S100B, SLC2A1
37forskolin43 49 1210.5INHA, MUC1, S100B, SLC2A1
38dexamethasone43 49 28 1211.5VEGFA, MUC1, S100B, SLC2A1
39progesterone43 28 59 24 1212.5S100B, NES, MUC1, INHA
40glutamate438.5SLC2A1, S100B, NES, EPOR
41cysteine438.3EPOR, MUC1, S100B, SLC2A1
42lipid438.3S100B, NES, MUC1, EPOR
43nitric oxide43 24 1210.1EPOR, MUC1, NES, VHL, S100B
44serine438.1EPOR, MUC1, VHL, S100B, SLC2A1
45oxygen43 248.6EPOR, MUC1, NES, VHL, S100B, SLC2A1
46glucose437.6EPOR, MUC1, NES, VHL, S100B, SLC2A1
47vegf437.3VEGFA, EPOR, MUC1, NES, VHL, S100B
48paraffin437.2SLC2A1, INHA, VEGFA, EPOR, MUC1, NES
49estrogen436.9INHA, VEGFA, EPOR, MUC1, NES, VHL
50tyrosine436.8INHA, VEGFA, EPOR, MUC1, NES, VHL

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
1intermediate filament cytoskeletonGO:00451119.3VHL, NES
2extracellular regionGO:00055768.4S100B, EPOR, VEGFA, INHA

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

idNameGO IDScoreTop Affiliating Genes
1ovarian follicle developmentGO:00015419.7VEGFA, INHA
2regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614189.5VHL, VEGFA
3cellular response to hypoxiaGO:00714568.8S100B, VHL, VEGFA

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428028.0SLC2A1, S100B, EPOR, VEGFA
2protein bindingGO:00055156.9VEGFA, EPOR, MUC1, VHL, S100B, SLC2A1

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet