MCID: RTN013
MIFTS: 36

Retinal Hemangioblastoma

Categories: Cancer diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Retinal Hemangioblastoma

MalaCards integrated aliases for Retinal Hemangioblastoma:

Name: Retinal Hemangioblastoma 12 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:5240
NCIt 50 C39783
UMLS 73 C1514915

Summaries for Retinal Hemangioblastoma

MalaCards based summary : Retinal Hemangioblastoma is related to hemangioblastoma and von hippel-lindau syndrome. An important gene associated with Retinal Hemangioblastoma is EPAS1 (Endothelial PAS Domain Protein 1), and among its related pathways/superpathways are Pathways in cancer and Neuroscience. The drugs Vatalanib and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and kidney, and related phenotypes are cellular and cardiovascular system

Related Diseases for Retinal Hemangioblastoma

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 hemangioblastoma 30.6 VHL VEGFA PAX2 ENO2
2 von hippel-lindau syndrome 30.3 VHL VEGFA HIF1A
3 hypoxia 29.6 VHL VEGFA HIF1A EPAS1 CA9
4 nephrogenic adenoma of urinary bladder 10.3 PAX8 PAX2
5 nephrogenic adenoma 10.3 PAX8 PAX2
6 rete testis adenoma 10.3 PAX8 PAX2
7 childhood endodermal sinus tumor 10.3 PAX8 PAX2
8 bladder benign neoplasm 10.3 PAX8 PAX2
9 fumarate hydratase deficiency 10.2 VHL HIF1A
10 tenosynovial giant cell tumor 10.2 SERPINA3 CLU
11 erythrocytosis, familial, 2 10.2 VHL HIF1A EPAS1
12 ovarian brenner tumor 10.2 PAX8 PAX2 KRT18
13 polycythemia 10.1 VHL HIF1A EPAS1
14 dermis tumor 10.1 SERPINA3 LYZ
15 autoimmune retinopathy 10.1 ENO2 CA2
16 clear cell papillary renal cell carcinoma 10.1 VHL CA9
17 congenital granular cell tumor 10.1 LYZ ENO2
18 lymphoepithelioma-like thymic carcinoma 10.1 KRT18 CD274
19 pancreatic serous cystadenoma 10.1 VHL VEGFA
20 microcystic adenoma 10.1 VHL ENO2
21 auditory system cancer 10.1 LYZ ENO2
22 epithelioid leiomyosarcoma 10.1 SERPINA3 ENO2
23 renal cell carcinoma, papillary, 1 10.0 VHL PAX8 CA9
24 rete testis neoplasm 10.0 PAX8 PAX2 ENO2
25 intravascular papillary endothelial hyperplasia 10.0 VEGFA SERPINA3 HIF1A
26 nodular tenosynovitis 10.0 SERPINA3 S100A9
27 aids dementia complex 10.0 CXCR4 CXCL12
28 large cell carcinoma with rhabdoid phenotype 10.0 VEGFA ENO2
29 kidney cancer 10.0 VHL VEGFA HIF1A
30 middle cerebral artery infarction 10.0 KRT18 ENO2
31 retinal ischemia 10.0 VEGFA HIF1A CXCL12
32 limb ischemia 10.0 VEGFA HIF1A CXCL12
33 adult xanthogranuloma 10.0 S100A9 LYZ
34 nephrogenic adenofibroma 10.0 KRT18 PAX2 PAX8 CA9
35 renal pelvis carcinoma 10.0 VEGFA PAX8 CA9
36 differentiated thyroid carcinoma 10.0 VEGFA PAX8 CD274
37 histiocytic and dendritic cell cancer 10.0 LYZ CLU
38 pineal gland cancer 9.9 KRT18 ENO2
39 sensory organ benign neoplasm 9.9 PAX8 LYZ ENO2 CA2
40 lymphoepithelioma-like carcinoma 9.9 KRT18 ENO2 CD274
41 reticulohistiocytic granuloma 9.9 SERPINA3 S100A9 LYZ
42 xanthogranulomatous cholecystitis 9.9 SERPINA3 S100A9 LYZ
43 connective tissue cancer 9.9 VEGFA SERPINA3 ENO2
44 macular retinal edema 9.9
45 tuberculous meningitis 9.9 VEGFA LYZ ENO2
46 nodular prostate 9.9 HIF1A ENO2 CA9
47 neuroretinitis 9.9 VEGFA LYZ CD274 CA2
48 pheochromocytoma 9.9 VHL HIF1A EPAS1 ENO2
49 respiratory system cancer 9.8 VEGFA ENO2 CD274
50 microcystic meningioma 9.8 VEGFA ENO2

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



Diseases related to Retinal Hemangioblastoma

Symptoms & Phenotypes for Retinal Hemangioblastoma

MGI Mouse Phenotypes related to Retinal Hemangioblastoma:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 CD274 CXCL12 CXCR4 ENO2 HIF1A LYZ
2 cardiovascular system MP:0005385 10.26 CLU CXCL12 CXCR4 EPAS1 HIF1A LYZ
3 mortality/aging MP:0010768 10.25 CA2 CA9 CD274 CXCL12 CXCR4 EPAS1
4 immune system MP:0005387 10.23 CA2 CA9 CD274 CLU CXCL12 CXCR4
5 homeostasis/metabolism MP:0005376 10.22 CA2 CD274 CLU CXCR4 EPAS1 HIF1A
6 hematopoietic system MP:0005397 10.19 CA9 CD274 CXCL12 CXCR4 EPAS1 HIF1A
7 endocrine/exocrine gland MP:0005379 10.16 CA2 CA9 CXCR4 HIF1A LYZ PAX2
8 embryo MP:0005380 10.13 CXCR4 EPAS1 HIF1A KRT18 PAX2 PAX8
9 digestive/alimentary MP:0005381 10.08 CA2 CA9 CXCR4 HIF1A LYZ VEGFA
10 nervous system MP:0003631 10.06 CA2 CLU CXCL12 CXCR4 ENO2 EPAS1
11 liver/biliary system MP:0005370 9.98 CXCL12 EPAS1 HIF1A KRT18 LYZ VEGFA
12 muscle MP:0005369 9.91 CLU CXCL12 CXCR4 EPAS1 HIF1A VEGFA
13 renal/urinary system MP:0005367 9.91 CA2 CLU CXCR4 HIF1A LYZ PAX2
14 reproductive system MP:0005389 9.76 CA2 CXCL12 CXCR4 LYZ PAX2 PAX8
15 respiratory system MP:0005388 9.5 CA2 CXCR4 ENO2 EPAS1 HIF1A LYZ
16 skeleton MP:0005390 9.28 CA2 CD274 CXCR4 EPAS1 HIF1A LYZ

Drugs & Therapeutics for Retinal Hemangioblastoma

Drugs for Retinal Hemangioblastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vatalanib Investigational Phase 2 212141-54-3 151194
2 Protein Kinase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584 Completed NCT00052013 Phase 2 PTK787/ZK 222584
2 Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067

Search NIH Clinical Center for Retinal Hemangioblastoma

Genetic Tests for Retinal Hemangioblastoma

Anatomical Context for Retinal Hemangioblastoma

MalaCards organs/tissues related to Retinal Hemangioblastoma:

41
Eye, Endothelial, Kidney, Prostate, Thyroid, Testis, Pineal

Publications for Retinal Hemangioblastoma

Articles related to Retinal Hemangioblastoma:

(show all 17)
# Title Authors Year
1
Solitary retinal hemangioblastoma findings in OCTA pre- and post-laser therapy. ( 29780915 )
2018
2
Retinal Hemangioblastoma and Syrinx in von Hippel-Lindau Disease. ( 28225727 )
2017
3
Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease. ( 28972023 )
2017
4
18F-FDG and 68Ga-DOTATATE PET/CT in von Hippel-Lindau Disease-Associated Retinal Hemangioblastoma. ( 28033220 )
2016
5
Retinal hemangioblastoma. ( 24626823 )
2014
6
Upregulation of hypoxia-inducible factors and autophagy in von Hippel-Lindau-associated retinal hemangioblastoma. ( 24859386 )
2014
7
Retinal hemangioblastoma regression after single session of photodynamic therapy. ( 24676097 )
2014
8
Scleral penetration of an unusually aggressive case of a retinal hemangioblastoma. ( 23931485 )
2013
9
Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma. ( 22763871 )
2012
10
Clinically unsuspected retinal hemangioblastoma in a blind eye as the initial manifestation of von Hippel-Lindau disease. ( 22281434 )
2012
11
Verteporfin photodynamic therapy for retinal hemangioblastoma associated with Von Hippel-Lindau disease in a 9-year-old child. ( 21040313 )
2011
12
Images in clinical medicine. Retinal hemangioblastoma in von Hippel-Lindau disease. ( 20818857 )
2010
13
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
14
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. ( 12202531 )
2002
15
The two-stage mutation model in retinal hemangioblastoma. ( 9810567 )
1998
16
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. ( 1741127 )
1992
17
Juxtapapillary retinal hemangioblastoma (angiomatosis retinae) in an infant: light microscopical and ultrastructural examination. ( 7157495 )
1982

Variations for Retinal Hemangioblastoma

Expression for Retinal Hemangioblastoma

Search GEO for disease gene expression data for Retinal Hemangioblastoma.

Pathways for Retinal Hemangioblastoma

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1 12.48 CDC42 CXCL12 CXCR4 EPAS1 HIF1A PAX8
2 12.38 CA2 CLU CXCR4 ENO2
3
Show member pathways
12.21 CDC42 EPAS1 HIF1A VEGFA VHL
4
Show member pathways
11.77 CDC42 CXCR4 VEGFA
5 11.62 ENO2 HIF1A VEGFA VHL
6
Show member pathways
11.62 CDC42 EPAS1 HIF1A VEGFA VHL
7 11.57 CXCR4 PAX2 VEGFA
8 11.37 HIF1A VEGFA VHL
9 11.29 CDC42 CXCL12 CXCR4
10 11.17 CA9 CXCL12 CXCR4 HIF1A VEGFA
11 11.11 EPAS1 VEGFA VHL
12 10.84 SERPINA3 VEGFA
13 10.73 PAX2 PAX8
14 10.69 HIF1A VHL
15 10.43 HIF1A VEGFA
16 10.15 CXCR4 EPAS1 VEGFA VHL

GO Terms for Retinal Hemangioblastoma

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.76 CA2 CLU CXCL12 ENO2 LYZ S100A9
2 protein-containing complex GO:0032991 9.65 CDC42 CLU CXCR4 HIF1A PAX2
3 extracellular exosome GO:0070062 9.36 CA2 CD274 CDC42 CLU CXCL12 CXCR4
4 platelet alpha granule lumen GO:0031093 9.13 CLU SERPINA3 VEGFA

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 9.85 EPAS1 HIF1A VEGFA
2 platelet degranulation GO:0002576 9.84 CLU SERPINA3 VEGFA
3 kidney development GO:0001822 9.83 CA2 PAX8 VEGFA
4 response to virus GO:0009615 9.83 CLU CXCL12 CXCR4
5 positive regulation of cold-induced thermogenesis GO:0120162 9.81 CXCR4 EPAS1 VEGFA
6 positive regulation of endothelial cell proliferation GO:0001938 9.78 CXCL12 HIF1A VEGFA
7 antimicrobial humoral response GO:0019730 9.72 CLU LYZ S100A9
8 morphogenesis of an epithelium GO:0002009 9.68 CA2 CA9
9 negative regulation of reactive oxygen species metabolic process GO:2000378 9.67 HIF1A PAX2
10 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.66 HIF1A VEGFA
11 macrophage differentiation GO:0030225 9.65 CDC42 VEGFA
12 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage GO:1902230 9.65 CLU CXCL12
13 urogenital system development GO:0001655 9.64 PAX2 PAX8
14 induction of positive chemotaxis GO:0050930 9.64 CXCL12 VEGFA
15 mesonephros development GO:0001823 9.62 PAX2 PAX8
16 surfactant homeostasis GO:0043129 9.61 EPAS1 VEGFA
17 secretion GO:0046903 9.6 CA2 CA9
18 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.59 PAX2 PAX8
19 positive regulation of axon extension involved in axon guidance GO:0048842 9.58 CXCL12 VEGFA
20 pronephros development GO:0048793 9.58 PAX2 PAX8
21 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.57 PAX2 PAX8
22 regulation of transcription from RNA polymerase II promoter in response to oxidative stress GO:0043619 9.56 EPAS1 HIF1A
23 metanephric epithelium development GO:0072207 9.54 PAX2 PAX8
24 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.52 HIF1A VEGFA
25 metanephric distal convoluted tubule development GO:0072221 9.51 PAX2 PAX8
26 metanephric nephron tubule formation GO:0072289 9.49 PAX2 PAX8
27 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.48 PAX2 PAX8
28 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.46 PAX2 PAX8
29 negative regulation of apoptotic process involved in metanephric collecting duct development GO:1900215 9.43 PAX2 PAX8
30 negative regulation of apoptotic process involved in metanephric nephron tubule development GO:1900218 9.4 PAX2 PAX8
31 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis GO:0072305 9.37 PAX2 PAX8
32 response to hypoxia GO:0001666 9.35 CXCL12 CXCR4 EPAS1 HIF1A VEGFA
33 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.33 PAX2 PAX8 VEGFA
34 positive regulation of metanephric DCT cell differentiation GO:2000594 9.32 PAX2 PAX8
35 pronephric field specification GO:0039003 9.26 PAX2 PAX8
36 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.02 CA9 EPAS1 HIF1A VEGFA VHL
37 cell differentiation GO:0030154 10.09 CDC42 EPAS1 HIF1A PAX2 PAX8 VEGFA
38 negative regulation of apoptotic process GO:0043066 10.03 HIF1A KRT18 PAX2 VEGFA VHL

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 CA2 CA9 CD274 CDC42 CLU CXCL12
2 transcription factor binding GO:0008134 9.46 EPAS1 HIF1A PAX2 VHL
3 carbonate dehydratase activity GO:0004089 8.96 CA2 CA9

Sources for Retinal Hemangioblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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