MCID: RTN013
MIFTS: 25

Retinal Hemangioblastoma malady

Summaries for Retinal Hemangioblastoma

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33MalaCards
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MalaCards: Retinal Hemangioblastoma is related to angiomatosis and hemangioblastoma. 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 retina and endothelial.

Aliases & Classifications for Retinal Hemangioblastoma

Sources:
8Disease Ontology, 61UMLS, 40NCIt
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Aliases & Descriptions:

retinal hemangioblastoma 8 61


External Ids:

Disease Ontology8 DOID:5240
NCIt40 C39783

Related Diseases for Retinal Hemangioblastoma

Sources:
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 52)
idRelated DiseaseScoreTop Affiliating Genes
1angiomatosis10.1
2hemangioblastoma10.0VEGFA
3von hippel-lindau disease10.0VEGFA
4corneal neovascularization10.0VEGFA
5retinal ischemia10.0VEGFA
6essential hypertension10.0CD2
7malaria10.0CD2
8retinal vein occlusion10.0VEGFA
9retinopathy of prematurity10.0VEGFA
10intraocular lymphoma10.0CXCR4
11encephalitis10.0CXCR4
12retinal detachment10.0VEGFA
13insulin resistance10.0CD2
14myelofibrosis10.0CXCL12
15oral cancer10.0CXCL12
16osteoarthritis10.0CXCL12
17human immunodeficiency virus infectious disease10.0CXCR4
18thrombocytosis10.0CXCL12
19cervical adenocarcinoma10.0CXCL12
20macular retinal edema10.0CXCL12, VEGFA
21multiple sclerosis10.0CXCL12, CD2
22multiple myeloma10.0CXCL12
23vascular disease10.0CXCL12, VEGFA
24astrocytoma10.0VEGFA, CXCR4
25whim syndrome10.0CXCR4, CXCL12
26severe combined immunodeficiency10.0CXCL12, CXCR4
27agammaglobulinemia10.0CXCR4, CXCL12
28pulmonary fibrosis10.0CXCL12, CXCR4
29aids dementia complex10.0CXCL12, CXCR4
30acute leukemia10.0CXCL12, CXCR4
31dementia10.0CXCL12, CXCR4
32papillary thyroid carcinoma10.0CXCL12, CXCR4
33nasopharynx carcinoma10.0CXCL12, CXCR4
34proliferative diabetic retinopathy10.0CXCL12, VEGFA
35ischemia10.0CXCL12, VEGFA
36melanoma10.0VEGFA, CD2, CXCR4
37osteosarcoma10.0CXCL12, CXCR4
38glioblastoma multiforme10.0VEGFA, CXCR4, CXCL12
39hematologic cancer10.0CXCL12, CXCR4, VEGFA
40myocardial infarction10.0CXCL12, CXCR4, CD2
41squamous cell carcinoma of the head and neck10.0VEGFA, CXCR4, CXCL12
42brain cancer10.0CXCL12, CXCR4, VEGFA
43rheumatoid arthritis10.0VEGFA, CXCR4, CXCL12
44colon cancer10.0CXCL12, CXCR4, VEGFA
45viral infectious disease10.0CD2, CXCR4, CXCL12
46endometrial carcinoma10.0VEGFA, CXCR4, CXCL12
47breast cancer10.0CXCL12, CXCR4, VEGFA
48ipex syndrome10.0CD2, CXCR4, CXCL12
49malignant glioma10.0CXCL12, CXCR4, VEGFA
50burkitt's lymphoma10.0CXCL12, CXCR4, CD2

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



Diseases related to retinal hemangioblastoma

Clinical Features for Retinal Hemangioblastoma

Drugs & Therapeutics for Retinal Hemangioblastoma

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Retinal Hemangioblastoma

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33MalaCards
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MalaCards organs/tissues related to Retinal Hemangioblastoma:

33
Retina, Endothelial

Animal Models for Retinal Hemangioblastoma or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Retinal Hemangioblastoma

Sources:
51PubMed
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Articles related to Retinal Hemangioblastoma:

(show all 19)
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
Longitudinal analysis of retinal hemangioblastomatosis and visual function in ocular von Hippel-Lindau disease. (22906772)
2012
4
Clinically unsuspected retinal hemangioblastoma in a blind eye as the initial manifestation of von Hippel-Lindau disease. (22281434)
2012
5
Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma. (22763871)
2012
6
Verteporfin photodynamic therapy for retinal hemangioblastoma associated with Von Hippel-Lindau disease in a 9-year-old child. (21040313)
2011
7
Temporary Exudative Retinal Detachment following Photodynamic Therapy in a Patient with Retinal Capillary Hemangioblastoma. (21887083)
2011
8
Images in clinical medicine. Retinal hemangioblastoma in von Hippel-Lindau disease. (20818857)
2010
9
Verteporfin photodynamic therapy of retinal capillary hemangioblastoma in von Hippel-Lindau disease. (20029153)
2010
10
Surgical management of retinal capillary hemangioblastoma associated with retinal detachment. (18626415)
2008
11
Intravitreal ranibizumab therapy for retinal capillary hemangioblastoma related to von Hippel-Lindau disease. (18789534)
2008
12
Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel-Lindau disease. (17543389)
2008
13
Internal en bloc resection and genetic analysis of retinal capillary hemangioblastoma. (17846357)
2007
14
Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. (17070589)
2007
15
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
16
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. (12202531)
2002
17
The two-stage mutation model in retinal hemangioblastoma. (9810567)
1998
18
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. (1741127)
1992
19
Juxtapapillary retinal hemangioblastoma (angiomatosis retinae) in an infant: light microscopical and ultrastructural examination. (7157495)
1982

Genetic Variations for Retinal Hemangioblastoma

Expression for genes affiliated with Retinal Hemangioblastoma

Sources:
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

Sources:
38NCBI BioSystems Database, 30KEGG, 52QIAGEN, 12EMD Millipore, 54Reactome
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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
Hide members
9.0CXCL12, CXCR4
59.0CXCL12, CXCR4
69.0CXCL12, CXCR4
79.0CXCL12, CXCR4
89.0CXCR4, CXCL12
99.0CXCR4, CXCL12
10
Hide members
8.5CD2, CXCR4, CXCL12
11
Hide members
8.5CXCL12, CXCR4, CD2
12
Hide members
8.5CXCL12, CXCR4, CD2
138.5CXCL12, CXCR4, VEGFA
14
Hide members
8.0CXCL12, CXCR4, CD2, VEGFA

Compounds for genes affiliated with Retinal Hemangioblastoma

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 2BitterDB, 60Tocris Bioscience, 24HMDB
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Compounds related to Retinal Hemangioblastoma according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1triamcinolone45 50 29 1112.5CXCL12, VEGFA
2carboplatin45 50 1111.4VEGFA, CXCR4
3cyclam459.4CXCL12, CXCR4
4plerixafor29 45 1111.4CXCL12, CXCR4
5bicyclam459.4CXCL12, CXCR4
6sdf 1459.4CXCL12, CXCR4
7galactosylceramide459.4CXCL12, CXCR4
8larc459.4CXCR4, CXCL12
9mdms459.4CXCR4, CXCL12
10fucoidan459.4CXCL12, CXCR4
11anaphylatoxin459.3CXCR4, CXCL12
12pertussis459.3CXCR4, CXCL12
13tarc459.3CXCL12, CXCR4
14quinine45 29 2 1112.2CXCR4, CXCL12
15ccl345 2910.2CXCL12, CXCR4
16ccl445 2910.2CXCL12, CXCR4
17zidovudine45 1110.0CXCR4, CXCL12
18suramin45 29 1111.0CXCR4, VEGFA
19imatinib45 50 1110.9VEGFA, CXCR4, CXCL12
20matrigel458.9VEGFA, CXCR4, CXCL12
21sb 20358045 609.9CXCL12, CXCR4, VEGFA
22rapamycin458.9VEGFA, CXCR4, CXCL12
23ly294002458.8VEGFA, CXCR4, CXCL12
24wortmannin458.8CXCL12, CXCR4, CD2
25actinomycin d458.8CXCL12, CXCR4, VEGFA
26pge2458.8CXCL12, CXCR4, VEGFA
27heparin45 29 11 2411.8CXCL12, CXCR4, VEGFA
28cycloheximide458.7VEGFA, CXCR4, CXCL12
29dexamethasone45 50 29 1111.6CXCL12, CXCR4, VEGFA
30estrogen458.5CXCL12, CXCR4, VEGFA
31vegf458.4CXCL12, CXCR4, VEGFA
32tyrosine458.3CXCL12, CXCR4, CD2, VEGFA

GO Terms for genes affiliated with Retinal Hemangioblastoma

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinal Hemangioblastoma

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet