MCID: HMN009
MIFTS: 55

Hemangioblastoma malady

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

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NIH Rare Diseases:42 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 disease and polycythemia. 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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Sources:
8Disease Ontology, 42NIH Rare Diseases, 44Novoseek, 48Orphanet, 62UMLS, 34MeSH, 39NCIt, 57SNOMED-CT, 63UMLS via Orphanet
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Hemangioblastoma, Aliases & Descriptions:

Name: Hemangioblastoma 8 42 44 48 62
 
Capillary Hemangioblastoma 8 42 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hemangioblastoma:
Age of onset: Adulthood


External Ids:

Disease Ontology8 DOID:5241
MeSH34 D018325
SNOMED-CT57 81201000
NCIt39 C3801
UMLS via Orphanet63 C0206734

Related Diseases for Hemangioblastoma

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

(show top 50)    (show all 138)
idRelated DiseaseScoreTop Affiliating Genes
1von hippel-lindau disease31.6VHL, VEGFA, INHA
2polycythemia31.0EPOR, VHL
3erythrocytosis30.9VHL, EPOR
4pheochromocytoma30.8INHA, EPOR, VHL
5hemangioma30.5VHL, VEGFA, SLC2A1
6capillary hemangioma30.5SLC2A1
7hemangiopericytoma30.1S100B, MUC1
8ependymoma30.0NES, MUC1, S100B
9choroid plexus papilloma29.9MUC1, S100B
10pilocytic astrocytoma29.9S100B, NES
11meningioma29.9S100B, SLC2A1, INHA, MUC1
12breast cancer29.6MUC1, SLC2A1, EPOR, VEGFA
13adenoma29.3MUC1, SLC2A1, INHA, VHL, NES
14renal clear cell carcinoma29.1SLC2A1, VHL, MUC1, EPOR, VEGFA, INHA
15malignant glioma28.9VHL, S100B, EPOR, SLC2A1, VEGFA, NES
16astrocytoma28.9EPOR, NES, VHL, S100B, SLC2A1, VEGFA
17retinitis10.6
18renal cell carcinoma10.6
19retinal hemangioblastoma10.5
20endotheliitis10.5
21cervicitis10.5
22kidney cancer10.4VEGFA, VHL
23clear cell renal cell carcinoma10.3
24primary polycythemia10.3EPOR, VHL
25cystadenoma10.3INHA, VHL
26acoustic neuroma10.3VHL, EPOR
27cerebritis10.3
28primary hyperoxaluria10.3EPOR, VEGFA
29peutz-jeghers syndrome10.3VHL, INHA
30vascular cancer10.3VHL, SLC2A1
31ganglioglioma10.3S100B
32syringomyelia10.3
33aneurysm10.3
34angiomatosis10.2
35adrenal cortical adenoma10.2VHL, INHA
36sertoli-leydig cell tumor10.2INHA, MUC1
37sertoli cell tumor10.2MUC1, INHA
38kidney rhabdoid cancer10.2VEGFA, VHL
39abrikosov's tumor10.2INHA, MUC1
40papillary adenocarcinoma10.2SLC2A1, MUC1
41hydrocephalus10.2
42hypertension10.2
43brain stem angioblastoma10.2
44cerebellar angioblastoma10.2
45mutism10.2
46primary hyperparathyroidism10.2
47hyperparathyroidism10.2
48meningitis10.2
49endometrial carcinoma10.1MUC1, INHA
50glioblastoma multiforme10.1VEGFA, NES, VHL

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:

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Genetic Tests for Hemangioblastoma

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Anatomical Context for Hemangioblastoma

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MalaCards organs/tissues related to Hemangioblastoma:

32
Spinal cord, Brain, Retina, Cerebellum, Eye, Endothelial, Pituitary, Kidney, Medulla oblongata, Pineal, Bone, Lung, Breast, Skin, Pons

Animal Models for Hemangioblastoma or affiliated genes

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MGI Mouse Phenotypes related to Hemangioblastoma:

36 (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 544)
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
Hemangioblastoma of the gastrointestinal tract: a first case. (23516170)
2013
4
Von hippel-lindau syndrome: diagnosis and management of hemangioblastoma and pheochromocytoma. (23781388)
2013
5
Bilateral cerebellar epithelioid hemangioblastoma with possible ependymal differentiation in a patient with von Hippel-Lindau disease. (22364576)
2012
6
Pazopanib therapy for cerebellar hemangioblastomas in von Hippel-Lindau disease: case report. (22374327)
2012
7
Spinal cord hemangioblastomas in von hippel-lindau disease: management of asymptomatic and symptomatic tumors. (23074104)
2012
8
Adrenal haemangioblastoma presenting as phaeochromocytoma: a rare manifestation of extraneural hemangioblastoma. (22544391)
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
Fluorescence diagnosis of tumor cells in hemangioblastoma cysts with 5-aminolevulinic acid. (19480541)
2010
12
Overexpression and activation of epidermal growth factor receptor in hemangioblastomas. (20730556)
2010
13
Expression of CXCR4 and VEGF in hemangioblastomas of the central nervous system and its relation to tumor angiogenesis]. (20629312)
2010
14
Supratentorial hemangioblastoma in the neonatal period. (19321952)
2009
15
Cerebellar hemangioblastoma manifesting as hearing disturbance. (19779288)
2009
16
Hemangioblastoma of the lateral ventricle. (19934579)
2009
17
Intraspinal hemangioblastoma: analysis of 22 cases. (18501608)
2008
18
Hemangioblastoma of the filum terminale. Case report and review of the literature. (17725110)
2007
19
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
20
Stromal cells in hemangioblastoma: neuroectodermal differentiation and morphological similarities to ependymoma. (15982211)
2005
21
Capillary hemangioblastoma of soft tissue: report of a case and review of the literature. (16226115)
2005
22
Challenging manifestations of malignancies. Case 1. Polycythemia and high serum erythropoietin level as a result of hemangioblastoma. (15337812)
2004
23
The natural history of cerebellar hemangioblastomas in von Hippel-Lindau disease. (13679272)
2003
24
Treatment of intramedullary hemangioblastomas, with special attention to von Hippel-Lindau disease. (14633297)
2003
25
Diagnosis and treatment of intramedullary hemangioblastoma of cervical spinal cord. (12150732)
2002
26
A case of von Hippel-Lindau disease with bilateral pheochromocytoma, renal cell carcinoma, pelvic tumor, spinal hemangioblastoma and primary hyperparathyroidism. (12081237)
2002
27
Suprasellar hemangioblastoma in a patient with von Hippel-Lindau disease confirmed by germline mutation study: case report and review of the literature. (11546565)
2001
28
Transthyretin and transferrin in hemangioblastoma stromal cells. (11087054)
2000
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
Metastasis of renal carcinoma to a cerebellar hemangioblastoma in a patient with von Hippel Lindau disease: a case report. (10616572)
1999
32
Treatment of hemangioblastomas in von Hippel-Lindau disease with linear accelerator-based radiosurgery. (9657185)
1998
33
Successful removal of a hemangioblastoma from the medulla oblongata: case report. (10074742)
1998
34
Pathology, genetics and cell biology of hemangioblastomas. (8930647)
1996
35
Cerebellar hemangioblastoma complicating pregnancy. A case report. (8576886)
1995
36
Hemangioblastoma of the IV ventricle. (7585692)
1995
37
Immunohistochemical study of basic fibroblast growth factor and erythropoietin in cerebellar hemangioblastomas. (7894620)
1994
38
Intramedullary hemorrhage in spinal cord hemangioblastoma. Report of two cases. (7965128)
1994
39
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. (1741127)
1992
40
Hemangioblastomas of the central nervous system--immunohistochemical and ultrastructural study. (1700315)
1990
41
Erythropoietin in capillary hemangioblastoma. An immunohistochemical study. (3318272)
1987
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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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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Compounds for genes affiliated with Hemangioblastoma

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Compounds related to Hemangioblastoma according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1sunitinib44 50 1112.1VEGFA, VHL
2lenalidomide44 1111.0VEGFA, EPOR
3sorafenib44 50 1111.9VHL, VEGFA
4pimonidazole449.9SLC2A1, EPOR
5temozolomide44 1110.9VEGFA, NES
6cobalt chloride449.7SLC2A1, VHL, VEGFA
7trastuzumab44 50 1111.5VEGFA, MUC1
8rapamycin449.5SLC2A1, VHL, VEGFA
9eosin449.4S100B, MUC1
10s 100449.4MUC1, S100B
11reticulin449.4S100B, MUC1
12mucicarmine449.4MUC1, S100B
13tunicamycin44 6110.4EPOR, SLC2A1
14b 723449.3S100B, MUC1
155fluorouracil449.3VEGFA, MUC1, SLC2A1
16matrigel449.3NES, MUC1, VEGFA
17pioglitazone28 44 50 1112.3SLC2A1, VEGFA
18agar449.2SLC2A1, MUC1, EPOR
19ribonucleic acid449.2INHA, MUC1, SLC2A1
20ly294002449.2SLC2A1, VHL, EPOR, VEGFA
21proline449.1S100B, VHL, EPOR
22iron44 2410.1EPOR, VHL, S100B
23hematoxylin449.1INHA, MUC1, S100B
24agarose449.0S100B, MUC1, INHA
25acth449.0S100B, MUC1, INHA
26gaba449.0NES, S100B, SLC2A1
27wortmannin448.9EPOR, S100B, SLC2A1
28cisplatin44 50 61 1111.9VEGFA, EPOR, MUC1, SLC2A1
29pyruvate448.9SLC2A1, S100B, MUC1
30dopamine44 28 24 1111.8NES, S100B, SLC2A1
31heparin44 28 24 1111.8SLC2A1, S100B, VEGFA
32thymidine44 249.7S100B, MUC1, EPOR
33cyclic amp44 249.6S100B, MUC1, INHA
34alanine448.6INHA, EPOR, S100B, SLC2A1
35actinomycin d448.6VEGFA, EPOR, MUC1, VHL, SLC2A1
36glycogen44 249.6MUC1, VHL, S100B, SLC2A1
37forskolin44 50 1110.5INHA, MUC1, S100B, SLC2A1
38dexamethasone44 50 28 1111.5VEGFA, MUC1, S100B, SLC2A1
39progesterone44 28 61 24 1112.5S100B, NES, MUC1, INHA
40glutamate448.5SLC2A1, S100B, NES, EPOR
41cysteine448.3EPOR, MUC1, S100B, SLC2A1
42lipid448.3S100B, NES, MUC1, EPOR
43nitric oxide44 24 1110.1EPOR, MUC1, NES, VHL, S100B
44serine448.1EPOR, MUC1, VHL, S100B, SLC2A1
45oxygen44 248.6EPOR, MUC1, NES, VHL, S100B, SLC2A1
46glucose447.6EPOR, MUC1, NES, VHL, S100B, SLC2A1
47vegf447.3VEGFA, EPOR, MUC1, NES, VHL, S100B
48paraffin447.2SLC2A1, INHA, VEGFA, EPOR, MUC1, NES
49estrogen446.9INHA, VEGFA, EPOR, MUC1, NES, VHL
50tyrosine446.8INHA, VEGFA, EPOR, MUC1, NES, VHL

GO Terms for genes affiliated with Hemangioblastoma

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Cellular components related to Hemangioblastoma according to GeneCards/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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet