MCID: RTN013
MIFTS: 37

Retinal Hemangioblastoma malady

Cancer diseases, Eye diseases categories
Download this MalaCard

Summaries for Retinal Hemangioblastoma

About this section
Sources:
33MalaCards
See all sources

Fully expand this MalaCard
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

About this section
Sources:
8Disease Ontology, 62UMLS, 40NCIt
See all sources

Classifications:

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


Aliases & Descriptions:

retinal hemangioblastoma 8 62


External Ids:

Disease Ontology8 DOID:5240
NCIt40 C39783

Related Diseases for Retinal Hemangioblastoma

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Retinal Hemangioblastoma

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

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
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Retinal Hemangioblastoma:

33
Eye, Endothelial, Retina

Animal Models for Retinal Hemangioblastoma or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Retinal Hemangioblastoma:

37
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
Sources:
52PubMed
See all sources

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

About this section

Expression for genes affiliated with Retinal Hemangioblastoma

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters, 53QIAGEN, 54R&D Systems, 55Reactome
See all sources

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 pathway38
S1P4 pathway38
S1P5 pathway38
S1P1 pathway38
Sphingosine 1-phosphate (S1P) pathway38
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

About this section
Sources:
51PharmGKB, 45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 3BitterDB, 61Tocris Bioscience
See all sources

Compounds related to Retinal Hemangioblastoma according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1triamcinolone51 45 29 1112.8CXCL12, VEGFA
2hyaluronic acid45 2410.6VEGFA, CXCL12
35fluorouracil459.6CXCL12, VEGFA
4tamoxifen45 51 29 1112.5CXCL12, VEGFA
5cyclam459.5CXCR4, CXCL12
6plerixafor45 29 1111.5CXCR4, CXCL12
7bicyclam459.5CXCR4, CXCL12
8sdf 1459.5CXCR4, CXCL12
9carboplatin45 51 1111.5CXCR4, VEGFA
10galactosylceramide459.5CXCR4, CXCL12
11suramin45 29 1111.5CXCR4, VEGFA
12larc459.4CXCL12, CXCR4
13mdms459.4CXCL12, CXCR4
14fucoidan459.4CXCR4, CXCL12
15anaphylatoxin459.4CXCR4, CXCL12
16pertussis459.4CXCL12, CXCR4
17tarc459.4CXCR4, CXCL12
18quinine45 29 3 51 1113.4CXCR4, CXCL12
19ccl345 2910.4CXCL12, CXCR4
20ccl445 2910.4CXCR4, CXCL12
21zidovudine45 51 1111.4CXCL12, CXCR4
22herbimycin a45 6110.3CXCR4, CXCL12
23genistein45 29 61 3 24 1114.3CXCL12, VEGFA
24heparan sulfate45 2410.3CXCR4, CXCL12
255-aza-2deoxycytidine459.3CXCR4, CXCL12
26prostaglandin459.3CXCL12, CXCR4
27rantes459.3CXCL12, CXCR4
28epinephrine45 24 1111.2CXCR4, CXCL12
29paclitaxel45 51 1111.2CXCR4, VEGFA
30polysaccharide459.2CXCL12, CXCR4
31nmda45 2910.1CXCR4, CXCL12
32pd 98,059459.0CXCL12, CXCR4
33imatinib45 51 1110.9VEGFA, CXCL12, CXCR4
34cyclophosphamide45 51 1110.9CXCR4, CXCL12, VEGFA
35matrigel458.9VEGFA, CXCL12, CXCR4
36sb 20358045 619.9VEGFA, CXCL12, CXCR4
37wortmannin458.9CXCR4, CXCL12
38rapamycin458.9CXCR4, CXCL12, VEGFA
39ly294002458.9VEGFA, CXCL12, CXCR4
40actinomycin d458.9CXCR4, CXCL12, VEGFA
41pge2458.9CXCR4, CXCL12, VEGFA
42heparin45 29 24 1111.9VEGFA, CXCL12, CXCR4
43cycloheximide458.9CXCR4, CXCL12, VEGFA
44dexamethasone45 51 29 1111.9CXCR4, CXCL12, VEGFA
45vegf458.9VEGFA, CXCL12, CXCR4
46estrogen458.9CXCR4, CXCL12, VEGFA
47tyrosine458.8CXCR4, CXCL12, VEGFA
48phosphoinositide458.7CXCR4, CXCL12

GO Terms for genes affiliated with Retinal Hemangioblastoma

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinal Hemangioblastoma

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet