MCID: RTN013
MIFTS: 31

Retinal Hemangioblastoma malady

Summaries for Retinal Hemangioblastoma

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32MalaCards
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MalaCards: Retinal Hemangioblastoma is related to hemangioblastoma and von hippel-lindau disease. An important gene associated with Retinal Hemangioblastoma is CD2 (CD2 molecule), and among its related pathways are S1P3 pathway and Leukocyte transendothelial migration. The compounds triamcinolone and carboplatin have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina.

Aliases & Classifications for Retinal Hemangioblastoma

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8Disease Ontology, 60UMLS, 39NCIt
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Aliases & Descriptions:

retinal hemangioblastoma 8 60


External Ids:

Disease Ontology8 DOID:5240
NCIt39 C39783

Related Diseases for Retinal Hemangioblastoma

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17GeneCards, 18GeneDecks
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Diseases related to Retinal Hemangioblastoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioblastoma30.8VEGFA
2von hippel-lindau disease30.6VEGFA
3macular retinal edema30.0CXCL12, VEGFA
4retinitis10.6
5retinal disease10.4
6eye disease10.0
7corneal neovascularization10.0VEGFA
8retinal ischemia10.0VEGFA
9essential hypertension10.0CD2
10malaria10.0CD2
11retinal vein occlusion10.0VEGFA
12retinopathy of prematurity10.0VEGFA
13intraocular lymphoma10.0CXCR4
14encephalitis10.0CXCR4
15retinal detachment10.0VEGFA
16insulin resistance10.0CD2
17myelofibrosis10.0CXCL12
18oral cancer10.0CXCL12
19osteoarthritis10.0CXCL12
20human immunodeficiency virus infectious disease10.0CXCR4
21thrombocytosis10.0CXCL12
22cervical adenocarcinoma10.0CXCL12
23multiple sclerosis10.0CXCL12, CD2
24multiple myeloma10.0CXCL12
25vascular disease10.0CXCL12, VEGFA
26astrocytoma10.0VEGFA, CXCR4
27whim syndrome10.0CXCR4, CXCL12
28severe combined immunodeficiency10.0CXCL12, CXCR4
29agammaglobulinemia10.0CXCR4, CXCL12
30pulmonary fibrosis10.0CXCL12, CXCR4
31aids dementia complex10.0CXCL12, CXCR4
32acute leukemia10.0CXCL12, CXCR4
33dementia10.0CXCL12, CXCR4
34papillary thyroid carcinoma10.0CXCL12, CXCR4
35nasopharynx carcinoma10.0CXCL12, CXCR4
36proliferative diabetic retinopathy10.0CXCL12, VEGFA
37ischemia10.0CXCL12, VEGFA
38melanoma10.0VEGFA, CD2, CXCR4
39osteosarcoma10.0CXCL12, CXCR4
40glioblastoma multiforme10.0VEGFA, CXCR4, CXCL12
41hematologic cancer10.0CXCL12, CXCR4, VEGFA
42myocardial infarction10.0CXCL12, CXCR4, CD2
43squamous cell carcinoma of the head and neck10.0VEGFA, CXCR4, CXCL12
44brain cancer10.0CXCL12, CXCR4, VEGFA
45rheumatoid arthritis10.0VEGFA, CXCR4, CXCL12
46colon cancer10.0CXCL12, CXCR4, VEGFA
47viral infectious disease10.0CD2, CXCR4, CXCL12
48endometrial carcinoma10.0VEGFA, CXCR4, CXCL12
49breast cancer10.0CXCL12, CXCR4, VEGFA
50ipex syndrome10.0CD2, CXCR4, CXCL12

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



Diseases related to retinal hemangioblastoma

Clinical Features for Retinal Hemangioblastoma

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Drugs & Therapeutics for Retinal Hemangioblastoma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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MalaCards organs/tissues related to Retinal Hemangioblastoma:

32
Eye, Endothelial, Retina

Animal Models for Retinal Hemangioblastoma or affiliated genes

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Publications for Retinal Hemangioblastoma

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50PubMed
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Articles related to Retinal Hemangioblastoma:

(show all 18)
idTitleAuthorsYear
1
Transvitreal endoresection of refractory retinal capillary hemangioblastoma after feeder vessel ligation. (23676231)
2013
2
Scleral penetration of an unusually aggressive case of a retinal hemangioblastoma. (23931485)
2013
3
Clinically unsuspected retinal hemangioblastoma in a blind eye as the initial manifestation of von Hippel-Lindau disease. (22281434)
2012
4
Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma. (22763871)
2012
5
Verteporfin photodynamic therapy for retinal hemangioblastoma associated with Von Hippel-Lindau disease in a 9-year-old child. (21040313)
2011
6
Temporary Exudative Retinal Detachment following Photodynamic Therapy in a Patient with Retinal Capillary Hemangioblastoma. (21887083)
2011
7
Images in clinical medicine. Retinal hemangioblastoma in von Hippel-Lindau disease. (20818857)
2010
8
Verteporfin photodynamic therapy of retinal capillary hemangioblastoma in von Hippel-Lindau disease. (20029153)
2010
9
Surgical management of retinal capillary hemangioblastoma associated with retinal detachment. (18626415)
2008
10
Intravitreal ranibizumab therapy for retinal capillary hemangioblastoma related to von Hippel-Lindau disease. (18789534)
2008
11
Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel-Lindau disease. (17543389)
2008
12
Internal en bloc resection and genetic analysis of retinal capillary hemangioblastoma. (17846357)
2007
13
Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. (17070589)
2007
14
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
15
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. (12202531)
2002
16
The two-stage mutation model in retinal hemangioblastoma. (9810567)
1998
17
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. (1741127)
1992
18
Juxtapapillary retinal hemangioblastoma (angiomatosis retinae) in an infant: light microscopical and ultrastructural examination. (7157495)
1982

Genetic Variations for Retinal Hemangioblastoma

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Expression for genes affiliated with Retinal Hemangioblastoma

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1BioGPS, 15Gene 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:
37NCBI BioSystems Database, 29KEGG, 51QIAGEN, 12EMD Millipore, 53Reactome
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Pathways related to Retinal Hemangioblastoma according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3CXCR4, VEGFA
29.0CXCL12, CXCR4
3
Hide members
9.0CXCL12, CXCR4
4
Cytoskeleton remodeling Reverse signaling by ephrin B
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9.0CXCL12, CXCR4
59.0CXCL12, CXCR4
69.0CXCL12, CXCR4
79.0CXCL12, CXCR4
89.0CXCR4, CXCL12
99.0CXCR4, CXCL12
10
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8.5CD2, CXCR4, CXCL12
11
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8.5CXCL12, CXCR4, CD2
12
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8.5CXCL12, CXCR4, CD2
138.5CXCL12, CXCR4, VEGFA
14
Hide members
8.0CXCL12, CXCR4, CD2, VEGFA

Compounds for genes affiliated with Retinal Hemangioblastoma

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Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 2BitterDB, 59Tocris Bioscience, 24HMDB
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Compounds related to Retinal Hemangioblastoma according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1triamcinolone44 49 28 1112.5CXCL12, VEGFA
2carboplatin44 49 1111.4VEGFA, CXCR4
3cyclam449.4CXCL12, CXCR4
4plerixafor28 44 1111.4CXCL12, CXCR4
5bicyclam449.4CXCL12, CXCR4
6sdf 1449.4CXCL12, CXCR4
7galactosylceramide449.4CXCL12, CXCR4
8larc449.4CXCR4, CXCL12
9mdms449.4CXCR4, CXCL12
10fucoidan449.4CXCL12, CXCR4
11anaphylatoxin449.3CXCR4, CXCL12
12pertussis449.3CXCR4, CXCL12
13tarc449.3CXCL12, CXCR4
14quinine44 28 2 1112.2CXCR4, CXCL12
15ccl344 2810.2CXCL12, CXCR4
16ccl444 2810.2CXCL12, CXCR4
17zidovudine44 1110.0CXCR4, CXCL12
18suramin44 28 1111.0CXCR4, VEGFA
19imatinib44 49 1110.9VEGFA, CXCR4, CXCL12
20matrigel448.9VEGFA, CXCR4, CXCL12
21sb 20358044 599.9CXCL12, CXCR4, VEGFA
22rapamycin448.9VEGFA, CXCR4, CXCL12
23ly294002448.8VEGFA, CXCR4, CXCL12
24wortmannin448.8CXCL12, CXCR4, CD2
25actinomycin d448.8CXCL12, CXCR4, VEGFA
26pge2448.8CXCL12, CXCR4, VEGFA
27heparin44 28 11 2411.8CXCL12, CXCR4, VEGFA
28cycloheximide448.7VEGFA, CXCR4, CXCL12
29dexamethasone44 49 28 1111.6CXCL12, CXCR4, VEGFA
30estrogen448.5CXCL12, CXCR4, VEGFA
31vegf448.4CXCL12, CXCR4, VEGFA
32tyrosine448.3CXCL12, CXCR4, CD2, VEGFA

GO Terms for genes affiliated with Retinal Hemangioblastoma

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16Gene Ontology
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Cellular components related to Retinal Hemangioblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098978.5CXCL12, CXCR4, CD2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1induction of positive chemotaxisGO:0509309.2VEGFA, CXCL12
2ameboidal cell migrationGO:0016679.2CXCL12, CXCR4
3germ cell migrationGO:0083549.1CXCL12, CXCR4
4T cell proliferationGO:0420989.0CXCL12, CXCR4
5response to virusGO:0096159.0CXCL12, CXCR4
6motor neuron axon guidanceGO:0080458.9CXCL12, CXCR4
7germ cell developmentGO:0072818.7CXCL12, CXCR4
8patterning of blood vesselsGO:0015698.7CXCL12, CXCR4, VEGFA

Products for genes affiliated with Retinal Hemangioblastoma

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Retinal 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet