Aliases & Classifications for Retinal Hemangioblastoma

About this section

Aliases & Descriptions for Retinal Hemangioblastoma:

Name: Retinal Hemangioblastoma 8 61


External Ids:

Disease Ontology8 DOID:5240
NCIt39 C39783

Summaries for Retinal Hemangioblastoma

About this section
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.

Related Diseases for Retinal Hemangioblastoma

About this section

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioblastoma10.7
2retinitis10.7
3intraocular lymphoma10.3CXCR4
4macular retinal edema10.2CXCL12, VEGFA
5microvascular complications of diabetes 110.1VEGFA, CXCL12
6microvascular complications of diabetes 510.1CXCL12, VEGFA
7von hippel-lindau syndrome10.1
8angiomatosis10.1
9hypoxia10.1
10blindness10.1
11endotheliitis10.1
12vascular disease10.1VEGFA, CXCL12
13whim syndrome10.0CXCR4, CXCL12
14agammaglobulinemia10.0CXCR4, CXCL12
15aids dementia complex10.0CXCR4, CXCL12
16malignant glioma10.0CXCR4, VEGFA
17severe combined immunodeficiency10.0CXCL12, CXCR4
18thyroid carcinoma, papillary10.0CXCL12, CXCR4
19nasopharyngeal carcinoma10.0CXCR4, CXCL12
20pulmonary fibrosis10.0CXCL12, CXCR4
21chronic lymphocytic leukemia10.0CXCR4, CXCL12
22dementia10.0CXCL12, CXCR4
23lymphoma, non-hodgkin10.0CXCL12, CXCR4
24acute leukemia9.9CXCL12, CXCR4
25hiv-19.9CXCR4, CXCL12
26colorectal cancer9.9VEGFA, CXCR4
27leukemia, acute lymphoblastic9.9CXCL12, CXCR4
28tuberculosis9.9CXCL12, CXCR4
29astrocytoma9.9CXCR4, VEGFA
30stroke, ischemic9.9CXCL12, CXCR4
31myocardial infarction9.9CXCR4, CXCL12
32osteosarcoma, somatic9.9CXCR4, CXCL12
33primary hyperoxaluria9.8CXCL12, CXCR4
34ovarian cancer, somatic9.8VEGFA, CXCR4
35hypersensitivity reaction type ii disease9.8CXCR4, CXCL12
36ischemia9.8VEGFA, CXCL12
37hematologic cancer9.8CXCR4, VEGFA, CXCL12
38glioblastoma multiforme9.8VEGFA, CXCL12, CXCR4
39squamous cell carcinoma, head and neck9.8VEGFA, CXCR4, CXCL12
40endometrial cancer9.8CXCL12, CXCR4, VEGFA
41brain cancer9.8CXCL12, CXCR4, VEGFA
42myeloma9.8CXCL12, CXCR4, VEGFA
43glioblastoma9.8VEGFA, CXCL12, CXCR4
44pancreatic cancer9.8CXCR4, VEGFA, CXCL12
45rheumatoid arthritis9.8VEGFA, CXCL12, CXCR4
46tongue squamous cell carcinoma9.8CXCL12, VEGFA, CXCR4
47adenocarcinoma9.8VEGFA, CXCR4, CXCL12
48prostate cancer9.8CXCR4, CXCL12, VEGFA
49breast cancer9.7CXCR4, CXCL12, VEGFA

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



Diseases related to retinal hemangioblastoma

Symptoms for Retinal Hemangioblastoma

About this section

Drugs & Therapeutics for Retinal Hemangioblastoma

About this section

Drug clinical trials:

Search ClinicalTrials for Retinal Hemangioblastoma

Search NIH Clinical Center for Retinal Hemangioblastoma

Genetic Tests for Retinal Hemangioblastoma

About this section

Anatomical Context for Retinal Hemangioblastoma

About this section

MalaCards organs/tissues related to Retinal Hemangioblastoma:

31
Eye, Retina, Endothelial

Animal Models for Retinal Hemangioblastoma or affiliated genes

About this section

MGI Mouse Phenotypes related to Retinal Hemangioblastoma:

35
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

About this section

Articles related to Retinal Hemangioblastoma:

(show all 13)
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
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
10
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. (12202531)
2002
11
The two-stage mutation model in retinal hemangioblastoma. (9810567)
1998
12
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. (1741127)
1992
13
Juxtapapillary retinal hemangioblastoma (angiomatosis retinae) in an infant: light microscopical and ultrastructural examination. (7157495)
1982

Variations for Retinal Hemangioblastoma

About this section

Expression for genes affiliated with Retinal Hemangioblastoma

About this section
Search GEO for disease gene expression data for Retinal Hemangioblastoma.

Pathways for genes affiliated with Retinal Hemangioblastoma

About this section

Pathways related to Retinal Hemangioblastoma according to GeneCards Suite gene sharing:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CXCL12, VEGFA
2
Show member pathways
S1P2 pathway36
S1P4 pathway36
S1P5 pathway36
S1P1 pathway36
Sphingosine 1-phosphate (S1P) pathway36
9.1CXCR4, VEGFA
3
Show member pathways
Apoptosis and survival BAD phosphorylation59
Development Alpha 2 adrenergic receptor activation of ERK59
Chemotaxis CXCR4 signaling pathway59
9.0CXCL12, CXCR4
4
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
9.0CXCR4, CXCL12
5
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B59
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

About this section

Compounds related to Retinal Hemangioblastoma according to GeneCards Suite gene sharing:

(show all 48)
idCompoundScoreTop Affiliating Genes
1triamcinolone50 44 28 1112.8VEGFA, CXCL12
2hyaluronic acid44 2410.6VEGFA, CXCL12
35fluorouracil449.6VEGFA, CXCL12
4tamoxifen44 50 28 1112.5VEGFA, CXCL12
5cyclam449.5CXCL12, CXCR4
6bicyclam449.5CXCL12, CXCR4
7plerixafor44 28 1111.5CXCR4, CXCL12
8sdf 1449.5CXCR4, CXCL12
9carboplatin44 50 1111.5VEGFA, CXCR4
10galactosylceramide449.5CXCL12, CXCR4
11suramin44 28 1111.5VEGFA, CXCR4
12larc449.4CXCR4, CXCL12
13mdms449.4CXCL12, CXCR4
14fucoidan449.4CXCL12, CXCR4
15anaphylatoxin449.4CXCL12, CXCR4
16pertussis449.4CXCR4, CXCL12
17tarc449.4CXCL12, CXCR4
18quinine44 28 1 50 1113.4CXCR4, CXCL12
19ccl344 2810.4CXCR4, CXCL12
20ccl444 2810.4CXCR4, CXCL12
21zidovudine44 50 1111.4CXCR4, CXCL12
22herbimycin a44 6010.3CXCL12, CXCR4
23genistein44 28 60 1 24 1114.3CXCL12, VEGFA
24heparan sulfate44 2410.3CXCR4, CXCL12
255-aza-2deoxycytidine449.3CXCL12, CXCR4
26prostaglandin449.3CXCL12, CXCR4
27rantes449.3CXCL12, CXCR4
28epinephrine44 24 1111.2CXCL12, CXCR4
29paclitaxel44 50 1111.2VEGFA, CXCR4
30polysaccharide449.2CXCL12, CXCR4
31nmda44 2810.1CXCR4, CXCL12
32pd 98,059449.0CXCR4, CXCL12
33imatinib44 50 1110.9CXCR4, CXCL12, VEGFA
34cyclophosphamide44 50 1110.9CXCR4, CXCL12, VEGFA
35matrigel448.9VEGFA, CXCL12, CXCR4
36sb 20358044 609.9CXCR4, CXCL12, VEGFA
37wortmannin448.9CXCL12, CXCR4
38rapamycin448.9VEGFA, CXCL12, CXCR4
39ly294002448.9VEGFA, CXCL12, CXCR4
40actinomycin d448.9CXCL12, VEGFA, CXCR4
41pge2448.9CXCR4, CXCL12, VEGFA
42heparin44 28 24 1111.9VEGFA, CXCL12, CXCR4
43cycloheximide448.9VEGFA, CXCL12, CXCR4
44dexamethasone44 50 28 1111.9CXCR4, CXCL12, VEGFA
45vegf448.9CXCL12, VEGFA, CXCR4
46estrogen448.9VEGFA, CXCL12, CXCR4
47tyrosine448.8CXCR4, CXCL12, VEGFA
48phosphoinositide448.7CXCR4, CXCL12

GO Terms for genes affiliated with Retinal Hemangioblastoma

About this section

Cellular components related to Retinal Hemangioblastoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00099869.1CXCR4, VEGFA
2external side of plasma membraneGO:00098978.7CXCR4, CXCL12

Biological processes related to Retinal Hemangioblastoma according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of axon extension involved in axon guidanceGO:00488429.6VEGFA, CXCL12
2induction of positive chemotaxisGO:00509309.5CXCL12, VEGFA
3positive regulation of endothelial cell proliferationGO:00019389.3VEGFA, CXCL12
4ameboidal cell migrationGO:00016679.3CXCR4, CXCL12
5germ cell migrationGO:00083549.3CXCR4, CXCL12
6T cell proliferationGO:00420989.2CXCL12, CXCR4
7motor neuron axon guidanceGO:00080459.2CXCR4, CXCL12
8chemokine-mediated signaling pathwayGO:00700989.1CXCR4, CXCL12
9germ cell developmentGO:00072819.1CXCR4, CXCL12
10G-protein coupled receptor signaling pathwayGO:00071869.0CXCR4, CXCL12
11neuron migrationGO:00017648.9CXCR4, CXCL12
12patterning of blood vesselsGO:00015698.8CXCR4, CXCL12, VEGFA
13response to hypoxiaGO:00016668.8CXCR4, CXCL12, VEGFA
14response to virusGO:00096158.7CXCR4, CXCL12

Molecular functions related to Retinal Hemangioblastoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00080839.3CXCL12, VEGFA

Sources for Retinal Hemangioblastoma

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet