MCID: RTN013
MIFTS: 37

Retinal Hemangioblastoma malady

Cancer diseases, Eye diseases categories

Summaries for Retinal Hemangioblastoma

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34MalaCards
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MalaCards: Retinal Hemangioblastoma is related to hemangioblastoma and retinitis. An important gene associated with Retinal Hemangioblastoma is CXCL12 (chemokine (C-X-C motif) ligand 12), and among its related pathways are Rheumatoid arthritis and S1P3 pathway. The compounds triamcinolone and hyaluronic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related mouse phenotypes are muscle and hematopoietic system.

Aliases & Classifications for Retinal Hemangioblastoma

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9Disease Ontology, 63UMLS, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Eye diseases


Aliases & Descriptions:

retinal hemangioblastoma 9 63


External Ids:

Disease Ontology9 DOID:5240
NCIt41 C39783

Related Diseases for Retinal Hemangioblastoma

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Retinal Hemangioblastoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioblastoma10.6
2retinitis10.6
3von hippel-lindau disease10.5
4angiomatosis10.1
5blindness10.1
6endotheliitis10.1
7intraocular lymphoma10.1CXCR4
8macular retinal edema10.0CXCL12, VEGFA
9proliferative diabetic retinopathy10.0VEGFA, CXCL12
10diabetic retinopathy10.0CXCL12, VEGFA
11vascular disease10.0VEGFA, CXCL12
12whim syndrome10.0CXCR4, CXCL12
13agammaglobulinemia10.0CXCR4, CXCL12
14aids dementia complex10.0CXCR4, CXCL12
15malignant glioma10.0CXCR4, VEGFA
16severe combined immunodeficiency10.0CXCL12, CXCR4
17papillary thyroid carcinoma10.0CXCL12, CXCR4
18nasopharynx carcinoma10.0CXCR4, CXCL12
19pulmonary fibrosis10.0CXCL12, CXCR4
20b-cell chronic lymphocytic leukemia10.0CXCL12, CXCR4
21chronic lymphocytic leukemia10.0CXCR4, CXCL12
22dementia10.0CXCL12, CXCR4
23non-hodgkin lymphoma10.0CXCL12, CXCR4
24acute leukemia10.0CXCL12, CXCR4
25immunodeficiency with hyper igm type 210.0CXCR4, CXCL12
26acute lymphocytic leukemia10.0CXCL12, CXCR4
27colorectal cancer10.0VEGFA, CXCR4
28sepsis10.0CXCL12, CXCR4
29tuberculosis10.0CXCL12, CXCR4
30astrocytoma10.0CXCR4, VEGFA
31cerebrovascular disease10.0CXCL12, CXCR4
32myocardial infarction10.0CXCR4, CXCL12
33osteosarcoma10.0CXCR4, CXCL12
34primary hyperoxaluria10.0CXCL12, CXCR4
35hypersensitivity reaction type ii disease10.0CXCR4, CXCL12
36ischemia10.0VEGFA, CXCL12
37ovarian cancer10.0VEGFA, CXCR4
38hematologic cancer10.0CXCR4, VEGFA, CXCL12
39squamous cell carcinoma of the head and neck10.0VEGFA, CXCR4, CXCL12
40endometrial carcinoma9.9CXCL12, CXCR4, VEGFA
41brain cancer9.9CXCL12, CXCR4, VEGFA
42myeloma9.9CXCL12, CXCR4, VEGFA
43colon cancer9.9VEGFA, CXCL12, CXCR4
44glioblastoma multiforme9.9VEGFA, CXCL12, CXCR4
45pancreatic cancer9.9CXCR4, VEGFA, CXCL12
46rheumatoid arthritis9.9VEGFA, CXCL12, CXCR4
47tongue squamous cell carcinoma9.9CXCL12, VEGFA, CXCR4
48adenocarcinoma9.9VEGFA, CXCR4, CXCL12
49prostate cancer9.9CXCR4, CXCL12, VEGFA
50breast cancer9.9CXCR4, CXCL12, VEGFA

Graphical network of the top 20 diseases related to Retinal Hemangioblastoma:



Diseases related to retinal hemangioblastoma

Symptoms for Retinal Hemangioblastoma

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Drugs & Therapeutics for Retinal Hemangioblastoma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Retinal Hemangioblastoma

Drug clinical trials:

Search ClinicalTrials for Retinal Hemangioblastoma

Search NIH Clinical Center for Retinal Hemangioblastoma

Search CenterWatch for Retinal Hemangioblastoma

Genetic Tests for Retinal Hemangioblastoma

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Anatomical Context for Retinal Hemangioblastoma

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34MalaCards
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MalaCards organs/tissues related to Retinal Hemangioblastoma:

34
Eye, Endothelial, Retina

Animal Models for Retinal Hemangioblastoma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Retinal Hemangioblastoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5CXCR4, CXCL12, VEGFA
2MP:00053978.5CXCR4, CXCL12, VEGFA
3MP:00053898.4CXCR4, CXCL12, VEGFA
4MP:00053858.2VEGFA, CXCL12, CXCR4

Publications for Retinal Hemangioblastoma

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53PubMed
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Articles related to Retinal Hemangioblastoma:

(show all 11)
idTitleAuthorsYear
1
Scleral penetration of an unusually aggressive case of a retinal hemangioblastoma. (23931485)
2013
2
Clinically unsuspected retinal hemangioblastoma in a blind eye as the initial manifestation of von Hippel-Lindau disease. (22281434)
2012
3
Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma. (22763871)
2012
4
Verteporfin photodynamic therapy for retinal hemangioblastoma associated with Von Hippel-Lindau disease in a 9-year-old child. (21040313)
2011
5
Images in clinical medicine. Retinal hemangioblastoma in von Hippel-Lindau disease. (20818857)
2010
6
Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. (17070589)
2007
7
Treatment of von Hippel-Lindau retinal hemangioblastoma by the vascular endothelial growth factor receptor inhibitor SU5416 is more effective for associated macular edema than for hemangioblastomas. (12834696)
2003
8
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. (12202531)
2002
9
The two-stage mutation model in retinal hemangioblastoma. (9810567)
1998
10
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. (1741127)
1992
11
Juxtapapillary retinal hemangioblastoma (angiomatosis retinae) in an infant: light microscopical and ultrastructural examination. (7157495)
1982

Variations for Retinal Hemangioblastoma

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Expression for genes affiliated with Retinal Hemangioblastoma

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinal Hemangioblastoma

Search GEO for disease gene expression data for Retinal Hemangioblastoma.

Pathways for genes affiliated with Retinal Hemangioblastoma

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Sources:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 61Thomson Reuters, 54QIAGEN, 55R&D Systems, 56Reactome
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Pathways related to Retinal Hemangioblastoma according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CXCL12, VEGFA
2
Show member pathways
S1P2 pathway39
S1P4 pathway39
S1P5 pathway39
S1P1 pathway39
Sphingosine 1-phosphate (S1P) pathway39
9.1CXCR4, VEGFA
3
Show member pathways
Apoptosis and survival BAD phosphorylation61
Development Alpha 2 adrenergic receptor activation of ERK61
Chemotaxis CXCR4 signaling pathway61
9.0CXCL12, CXCR4
4
Show member pathways
Development EDNRB signaling61
Development ACM2 and ACM4 activation of ERK61
Cell adhesion Integrin inside out signaling61
Development G Proteins mediated regulation MARK ERK signaling61
Signal transduction IP3 signaling61
Development Angiotensin signaling via PYK261
Development EPO induced MAPK pathway61
9.0CXCR4, CXCL12
5
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B61
9.0CXCR4, CXCL12
6
Show member pathways
9.0CXCL12, CXCR4
7
Show member pathways
9.0CXCR4, CXCL12
8
Show member pathways
9.0CXCR4, CXCL12
99.0CXCR4, CXCL12
109.0CXCL12, CXCR4
119.0CXCR4, CXCL12
12
Show member pathways
9.0CXCR4, CXCL12
139.0CXCR4, CXCL12
149.0CXCL12, CXCR4
15
Show member pathways
8.5VEGFA, CXCL12, CXCR4
168.5CXCR4, CXCL12, VEGFA
17
Show member pathways
8.5CXCR4, CXCL12, VEGFA

Compounds for genes affiliated with Retinal Hemangioblastoma

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Sources:
52PharmGKB, 46Novoseek, 30IUPHAR, 12DrugBank, 25HMDB, 3BitterDB, 62Tocris Bioscience
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Compounds related to Retinal Hemangioblastoma according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1triamcinolone52 46 30 1212.8CXCL12, VEGFA
2hyaluronic acid46 2510.6VEGFA, CXCL12
35fluorouracil469.6CXCL12, VEGFA
4tamoxifen46 52 30 1212.5CXCL12, VEGFA
5cyclam469.5CXCR4, CXCL12
6plerixafor46 30 1211.5CXCR4, CXCL12
7bicyclam469.5CXCR4, CXCL12
8sdf 1469.5CXCR4, CXCL12
9carboplatin46 52 1211.5CXCR4, VEGFA
10galactosylceramide469.5CXCR4, CXCL12
11suramin46 30 1211.5CXCR4, VEGFA
12larc469.4CXCL12, CXCR4
13mdms469.4CXCL12, CXCR4
14fucoidan469.4CXCR4, CXCL12
15anaphylatoxin469.4CXCR4, CXCL12
16pertussis469.4CXCL12, CXCR4
17tarc469.4CXCR4, CXCL12
18quinine46 30 3 52 1213.4CXCR4, CXCL12
19ccl346 3010.4CXCL12, CXCR4
20ccl446 3010.4CXCR4, CXCL12
21zidovudine46 52 1211.4CXCL12, CXCR4
22herbimycin a46 6210.3CXCR4, CXCL12
23genistein46 30 62 3 25 1214.3CXCL12, VEGFA
24heparan sulfate46 2510.3CXCR4, CXCL12
255-aza-2deoxycytidine469.3CXCR4, CXCL12
26prostaglandin469.3CXCL12, CXCR4
27rantes469.3CXCL12, CXCR4
28epinephrine46 25 1211.2CXCR4, CXCL12
29paclitaxel46 52 1211.2CXCR4, VEGFA
30polysaccharide469.2CXCL12, CXCR4
31nmda46 3010.1CXCR4, CXCL12
32pd 98,059469.0CXCL12, CXCR4
33imatinib46 52 1210.9VEGFA, CXCL12, CXCR4
34cyclophosphamide46 52 1210.9CXCR4, CXCL12, VEGFA
35matrigel468.9VEGFA, CXCL12, CXCR4
36sb 20358046 629.9VEGFA, CXCL12, CXCR4
37wortmannin468.9CXCR4, CXCL12
38rapamycin468.9CXCR4, CXCL12, VEGFA
39ly294002468.9VEGFA, CXCL12, CXCR4
40actinomycin d468.9CXCR4, CXCL12, VEGFA
41pge2468.9CXCR4, CXCL12, VEGFA
42heparin46 30 25 1211.9VEGFA, CXCL12, CXCR4
43cycloheximide468.9CXCR4, CXCL12, VEGFA
44dexamethasone46 52 30 1211.9CXCR4, CXCL12, VEGFA
45vegf468.9VEGFA, CXCL12, CXCR4
46estrogen468.9CXCR4, CXCL12, VEGFA
47tyrosine468.8CXCR4, CXCL12, VEGFA
48phosphoinositide468.7CXCR4, CXCL12

GO Terms for genes affiliated with Retinal Hemangioblastoma

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17Gene Ontology
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Cellular components related to Retinal Hemangioblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.1CXCR4, VEGFA
2external side of plasma membraneGO:0098978.7CXCR4, CXCL12

Biological processes related to Retinal Hemangioblastoma according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of axon extension involved in axon guidanceGO:0488429.6VEGFA, CXCL12
2induction of positive chemotaxisGO:0509309.5CXCL12, VEGFA
3positive regulation of endothelial cell proliferationGO:0019389.3VEGFA, CXCL12
4ameboidal cell migrationGO:0016679.3CXCR4, CXCL12
5germ cell migrationGO:0083549.3CXCR4, CXCL12
6T cell proliferationGO:0420989.2CXCL12, CXCR4
7motor neuron axon guidanceGO:0080459.2CXCR4, CXCL12
8chemokine-mediated signaling pathwayGO:0700989.1CXCR4, CXCL12
9germ cell developmentGO:0072819.1CXCR4, CXCL12
10G-protein coupled receptor signaling pathwayGO:0071869.0CXCR4, CXCL12
11neuron migrationGO:0017648.9CXCR4, CXCL12
12patterning of blood vesselsGO:0015698.8CXCR4, CXCL12, VEGFA
13response to hypoxiaGO:0016668.8CXCR4, CXCL12, VEGFA
14response to virusGO:0096158.7CXCR4, CXCL12

Molecular functions related to Retinal Hemangioblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:0080839.3CXCL12, VEGFA

Products for genes affiliated with Retinal Hemangioblastoma

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Sources for Retinal Hemangioblastoma

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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