MCID: RTN013
MIFTS: 37

Retinal Hemangioblastoma malady

Cancer diseases category
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Summaries for Retinal Hemangioblastoma

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MalaCards based summary: 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, retina and endothelial, and related mouse phenotypes are muscle and hematopoietic system.

Aliases & Classifications for Retinal Hemangioblastoma

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Retinal Hemangioblastoma, Aliases & Descriptions:

Name: Retinal Hemangioblastoma 8 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:5240
NCIt39 C39783

Related Diseases for Retinal Hemangioblastoma

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioblastoma10.7
2retinitis10.7
3von hippel-lindau disease10.5
4intraocular lymphoma10.3CXCR4
5macular retinal edema10.2CXCL12, VEGFA
6proliferative diabetic retinopathy10.1VEGFA, CXCL12
7diabetic retinopathy10.1CXCL12, VEGFA
8vascular disease10.1VEGFA, CXCL12
9angiomatosis10.1
10hypoxia10.1
11blindness10.1
12endotheliitis10.1
13whim syndrome10.0CXCR4, CXCL12
14bruton-type agammaglobulinemia10.0CXCR4, CXCL12
15aids dementia complex10.0CXCR4, CXCL12
16malignant glioma10.0CXCR4, VEGFA
17severe combined immunodeficiency10.0CXCL12, CXCR4
18papillary thyroid carcinoma10.0CXCL12, CXCR4
19nasopharynx carcinoma10.0CXCR4, CXCL12
20pulmonary fibrosis10.0CXCL12, 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 lymphoblastic leukemia9.9CXCL12, CXCR4
27colorectal cancer9.9VEGFA, CXCR4
28sepsis9.9CXCL12, CXCR4
29tuberculosis9.9CXCL12, CXCR4
30astrocytoma9.9CXCR4, VEGFA
31cerebrovascular disease9.9CXCL12, CXCR4
32myocardial infarction9.9CXCR4, CXCL12
33osteosarcoma9.9CXCR4, CXCL12
34primary hyperoxaluria9.8CXCL12, CXCR4
35hypersensitivity reaction type ii disease9.8CXCR4, CXCL12
36ischemia9.8VEGFA, CXCL12
37ovarian cancer9.8VEGFA, CXCR4
38hematologic cancer9.8CXCR4, VEGFA, CXCL12
39glioblastoma multiforme9.8VEGFA, CXCL12, CXCR4
40squamous cell carcinoma of the head and neck9.8VEGFA, CXCR4, CXCL12
41endometrial carcinoma9.8CXCL12, CXCR4, VEGFA
42brain cancer9.8CXCL12, CXCR4, VEGFA
43myeloma9.8CXCL12, CXCR4, VEGFA
44colonic benign neoplasm9.8VEGFA, CXCL12, CXCR4
45glioblastoma9.8VEGFA, CXCL12, CXCR4
46pancreatic cancer9.8CXCR4, VEGFA, CXCL12
47rheumatoid arthritis9.8VEGFA, CXCL12, CXCR4
48tongue squamous cell carcinoma9.8CXCL12, VEGFA, CXCR4
49adenocarcinoma9.8VEGFA, CXCR4, CXCL12
50prostate cancer9.8CXCR4, 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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Drug clinical trials:

Search ClinicalTrials for Retinal Hemangioblastoma

Search NIH Clinical Center for Retinal Hemangioblastoma

Genetic Tests for Retinal Hemangioblastoma

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Anatomical Context for Retinal Hemangioblastoma

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MalaCards organs/tissues related to Retinal Hemangioblastoma:

32
Eye, Retina, Endothelial

Animal Models for Retinal Hemangioblastoma or affiliated genes

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MGI Mouse Phenotypes related to Retinal Hemangioblastoma:

36
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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Articles related to Retinal Hemangioblastoma:

(show all 14)
idTitleAuthorsYear
1
Retinal hemangioblastoma regression after single session of photodynamic therapy. (24676097)
2014
2
Retinal hemangioblastoma. (24626823)
2014
3
Upregulation of hypoxia-inducible factors and autophagy in von Hippel-Lindau-associated retinal hemangioblastoma. (24859386)
2014
4
Scleral penetration of an unusually aggressive case of a retinal hemangioblastoma. (23931485)
2013
5
Clinically unsuspected retinal hemangioblastoma in a blind eye as the initial manifestation of von Hippel-Lindau disease. (22281434)
2012
6
Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma. (22763871)
2012
7
Verteporfin photodynamic therapy for retinal hemangioblastoma associated with Von Hippel-Lindau disease in a 9-year-old child. (21040313)
2011
8
Images in clinical medicine. Retinal hemangioblastoma in von Hippel-Lindau disease. (20818857)
2010
9
Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. (17070589)
2007
10
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
11
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. (12202531)
2002
12
The two-stage mutation model in retinal hemangioblastoma. (9810567)
1998
13
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. (1741127)
1992
14
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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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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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 pathway37
S1P4 pathway37
S1P5 pathway37
S1P1 pathway37
Sphingosine 1-phosphate (S1P) pathway37
9.1CXCR4, VEGFA
3
Show member pathways
Apoptosis and survival BAD phosphorylation60
Development Alpha 2 adrenergic receptor activation of ERK60
Chemotaxis CXCR4 signaling pathway60
9.0CXCL12, CXCR4
4
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.0CXCR4, CXCL12
5
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B60
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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Compounds related to Retinal Hemangioblastoma according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1triamcinolone50 44 28 1112.8CXCL12, VEGFA
2hyaluronic acid44 2410.6VEGFA, CXCL12
35fluorouracil449.6CXCL12, VEGFA
4tamoxifen44 50 28 1112.5CXCL12, VEGFA
5cyclam449.5CXCR4, CXCL12
6plerixafor44 28 1111.5CXCR4, CXCL12
7bicyclam449.5CXCR4, CXCL12
8sdf 1449.5CXCR4, CXCL12
9carboplatin44 50 1111.5CXCR4, VEGFA
10galactosylceramide449.5CXCR4, CXCL12
11suramin44 28 1111.5CXCR4, VEGFA
12larc449.4CXCL12, CXCR4
13mdms449.4CXCL12, CXCR4
14fucoidan449.4CXCR4, CXCL12
15anaphylatoxin449.4CXCR4, CXCL12
16pertussis449.4CXCL12, CXCR4
17tarc449.4CXCR4, CXCL12
18quinine44 28 2 50 1113.4CXCR4, CXCL12
19ccl344 2810.4CXCL12, CXCR4
20ccl444 2810.4CXCR4, CXCL12
21zidovudine44 50 1111.4CXCL12, CXCR4
22herbimycin a44 6110.3CXCR4, CXCL12
23genistein44 28 61 2 24 1114.3CXCL12, VEGFA
24heparan sulfate44 2410.3CXCR4, CXCL12
255-aza-2deoxycytidine449.3CXCR4, CXCL12
26prostaglandin449.3CXCL12, CXCR4
27rantes449.3CXCL12, CXCR4
28epinephrine44 24 1111.2CXCR4, CXCL12
29paclitaxel44 50 1111.2CXCR4, VEGFA
30polysaccharide449.2CXCL12, CXCR4
31nmda44 2810.1CXCR4, CXCL12
32pd 98,059449.0CXCL12, CXCR4
33imatinib44 50 1110.9VEGFA, CXCL12, CXCR4
34cyclophosphamide44 50 1110.9CXCR4, CXCL12, VEGFA
35matrigel448.9VEGFA, CXCL12, CXCR4
36sb 20358044 619.9VEGFA, CXCL12, CXCR4
37wortmannin448.9CXCR4, CXCL12
38rapamycin448.9CXCR4, CXCL12, VEGFA
39ly294002448.9VEGFA, CXCL12, CXCR4
40actinomycin d448.9CXCR4, CXCL12, VEGFA
41pge2448.9CXCR4, CXCL12, VEGFA
42heparin44 28 24 1111.9VEGFA, CXCL12, CXCR4
43cycloheximide448.9CXCR4, CXCL12, VEGFA
44dexamethasone44 50 28 1111.9CXCR4, CXCL12, VEGFA
45vegf448.9VEGFA, CXCL12, CXCR4
46estrogen448.9CXCR4, CXCL12, VEGFA
47tyrosine448.8CXCR4, CXCL12, VEGFA
48phosphoinositide448.7CXCR4, CXCL12

GO Terms for genes affiliated with Retinal Hemangioblastoma

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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:0488429.6CXCL12, VEGFA
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:0083549.3CXCL12, CXCR4
6T cell proliferationGO:0420989.2CXCL12, CXCR4
7motor neuron axon guidanceGO:0080459.2CXCR4, CXCL12
8chemokine-mediated signaling pathwayGO:0700989.1CXCR4, CXCL12
9germ cell developmentGO:0072819.1CXCL12, CXCR4
10G-protein coupled receptor signaling pathwayGO:0071869.0CXCL12, CXCR4
11neuron migrationGO:0017648.9CXCL12, CXCR4
12patterning of blood vesselsGO:0015698.8CXCR4, CXCL12, VEGFA
13response to hypoxiaGO:0016668.8VEGFA, CXCL12, CXCR4
14response to virusGO:0096158.7CXCL12, CXCR4

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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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