MCID: HMN009
MIFTS: 54

Hemangioblastoma malady

Rare diseases, Neuronal diseases, Cancer diseases categories
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Summaries for Hemangioblastoma

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43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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:65 Hemangioblastomas (capilliary hemangioblastomas) are tumors of the central nervous system that originate... more...

Aliases & Classifications for Hemangioblastoma

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8Disease Ontology, 43NIH Rare Diseases, 45Novoseek, 49Orphanet, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hemangioblastoma:
Age of onset: Adulthood


Aliases & Descriptions:

hemangioblastoma 8 43 45 49 62
capillary hemangioblastoma 8 43


External Ids:

Disease Ontology8 DOID:5241
NCIt40 C3801
MeSH35 D018325
SNOMED-CT58 81201000
UMLS via Orphanet63 C0206734
SNOMED-CT via Orphanet59 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 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

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Drugs & Therapeutics for Hemangioblastoma

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Hemangioblastoma:

33
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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37MGI
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MGI Mouse Phenotypes related to Hemangioblastoma:

37 (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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52PubMed
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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

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Expression for genes affiliated with Hemangioblastoma

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2BioGPS, 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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Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 30KEGG
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Compounds for genes affiliated with Hemangioblastoma

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45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 24HMDB
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Compounds related to Hemangioblastoma according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1sunitinib45 51 1112.1VEGFA, VHL
2lenalidomide45 1111.0VEGFA, EPOR
3sorafenib45 51 1111.9VHL, VEGFA
4pimonidazole459.9SLC2A1, EPOR
5temozolomide45 1110.9VEGFA, NES
6cobalt chloride459.7SLC2A1, VHL, VEGFA
7trastuzumab45 51 1111.5VEGFA, MUC1
8rapamycin459.5SLC2A1, VHL, VEGFA
9eosin459.4S100B, MUC1
10s 100459.4MUC1, S100B
11reticulin459.4S100B, MUC1
12mucicarmine459.4MUC1, S100B
13tunicamycin45 6110.4EPOR, SLC2A1
14b 723459.3S100B, MUC1
155fluorouracil459.3VEGFA, MUC1, SLC2A1
16matrigel459.3NES, MUC1, VEGFA
17pioglitazone29 45 51 1112.3SLC2A1, VEGFA
18agar459.2SLC2A1, MUC1, EPOR
19ribonucleic acid459.2INHA, MUC1, SLC2A1
20ly294002459.2SLC2A1, VHL, EPOR, VEGFA
21proline459.1S100B, VHL, EPOR
22iron45 2410.1EPOR, VHL, S100B
23hematoxylin459.1INHA, MUC1, S100B
24agarose459.0S100B, MUC1, INHA
25acth459.0S100B, MUC1, INHA
26gaba459.0NES, S100B, SLC2A1
27wortmannin458.9EPOR, S100B, SLC2A1
28cisplatin45 51 61 1111.9VEGFA, EPOR, MUC1, SLC2A1
29pyruvate458.9SLC2A1, S100B, MUC1
30dopamine45 29 24 1111.8NES, S100B, SLC2A1
31heparin45 29 24 1111.8SLC2A1, S100B, VEGFA
32thymidine45 249.7S100B, MUC1, EPOR
33cyclic amp45 249.6S100B, MUC1, INHA
34alanine458.6INHA, EPOR, S100B, SLC2A1
35actinomycin d458.6VEGFA, EPOR, MUC1, VHL, SLC2A1
36glycogen45 249.6MUC1, VHL, S100B, SLC2A1
37forskolin45 51 1110.5INHA, MUC1, S100B, SLC2A1
38dexamethasone45 51 29 1111.5VEGFA, MUC1, S100B, SLC2A1
39progesterone45 29 61 24 1112.5S100B, NES, MUC1, INHA
40glutamate458.5SLC2A1, S100B, NES, EPOR
41cysteine458.3EPOR, MUC1, S100B, SLC2A1
42lipid458.3S100B, NES, MUC1, EPOR
43nitric oxide45 24 1110.1EPOR, MUC1, NES, VHL, S100B
44serine458.1EPOR, MUC1, VHL, S100B, SLC2A1
45oxygen45 248.6EPOR, MUC1, NES, VHL, S100B, SLC2A1
46glucose457.6EPOR, MUC1, NES, VHL, S100B, SLC2A1
47vegf457.3VEGFA, EPOR, MUC1, NES, VHL, S100B
48paraffin457.2SLC2A1, INHA, VEGFA, EPOR, MUC1, NES
49estrogen456.9INHA, VEGFA, EPOR, MUC1, NES, VHL
50tyrosine456.8INHA, VEGFA, EPOR, MUC1, NES, VHL

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 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

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Sources for Hemangioblastoma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet