MCID: RTN013
MIFTS: 38

Retinal Hemangioblastoma

Categories: Cancer diseases, Neuronal diseases, Cardiovascular diseases

Aliases & Classifications for Retinal Hemangioblastoma

MalaCards integrated aliases for Retinal Hemangioblastoma:

Name: Retinal Hemangioblastoma 12 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:5240
NCIt 46 C39783
UMLS 69 C1514915

Summaries for Retinal Hemangioblastoma

MalaCards based summary : Retinal Hemangioblastoma is related to von hippel-lindau syndrome and hemangioblastoma. 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 ErbB signaling pathway. The drugs Vatalanib and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include endothelial, retina and eye, and related phenotypes are cardiovascular system and cellular

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 51)
# Related Disease Score Top Affiliating Genes
1 von hippel-lindau syndrome 30.4 HIF1A VEGFA VHL
2 hemangioblastoma 30.2 ENO2 PAX2 VEGFA VHL
3 hypoxia 29.0 CA9 EPAS1 HIF1A VEGFA VHL
4 nephrogenic adenoma of urinary bladder 10.5 PAX2 PAX8
5 rete testis adenoma 10.5 PAX2 PAX8
6 childhood endodermal sinus tumor 10.5 PAX2 PAX8
7 bladder benign neoplasm 10.5 PAX2 PAX8
8 retinitis 10.4
9 fumarate hydratase deficiency 10.3 HIF1A VHL
10 erythrocytosis, familial, 2 10.3 EPAS1 HIF1A VHL
11 ovarian brenner tumor 10.3 KRT18 PAX2 PAX8
12 autoimmune retinopathy 10.2 CA2 ENO2
13 polycythemia 10.2 EPAS1 HIF1A VHL
14 xanthogranulomatous pyelonephritis 10.2 LYZ PKDREJ SERPINA3
15 ameloblastic carcinoma 10.2 HIF1A TP63
16 clear cell papillary renal cell carcinoma 10.1 CA9 VHL
17 congenital granular cell tumor 10.1 ENO2 LYZ
18 microcystic adenoma 10.1 ENO2 VHL
19 neuroretinitis 10.1 CA2 LYZ VEGFA
20 rete testis neoplasm 10.1 ENO2 PAX2 PAX8
21 auditory system cancer 10.1 ENO2 LYZ
22 dermis tumor 10.1 LYZ SERPINA3
23 intravascular papillary endothelial hyperplasia 10.1 HIF1A SERPINA3 VEGFA
24 epithelioid leiomyosarcoma 10.0 ENO2 SERPINA3
25 pancreatic serous cystadenoma 10.0 VEGFA VHL
26 nephrogenic adenoma 10.0 PAX2 PAX8
27 nodular tenosynovitis 10.0 S100A9 SERPINA3
28 nephrogenic adenofibroma 10.0 CA9 KRT18 PAX2 PAX8
29 large cell carcinoma with rhabdoid phenotype 10.0 ENO2 VEGFA
30 retinal ischemia 9.9 CXCL12 HIF1A VEGFA
31 adult xanthogranuloma 9.9 LYZ S100A9
32 limb ischemia 9.9 CXCL12 HIF1A VEGFA
33 reticulohistiocytic granuloma 9.8 LYZ S100A9 SERPINA3
34 connective tissue cancer 9.8 ENO2 SERPINA3 VEGFA
35 xanthogranulomatous cholecystitis 9.8 LYZ S100A9 SERPINA3
36 nodular prostate 9.8 CA9 ENO2 HIF1A
37 tuberculous meningitis 9.8 ENO2 LYZ VEGFA
38 hydrops, lactic acidosis, and sideroblastic anemia 9.8
39 macular retinal edema 9.8
40 angiomatosis 9.8
41 endotheliitis 9.8
42 oral squamous cell carcinoma 9.7 CXCR4 HIF1A VEGFA
43 renal clear cell carcinoma 9.7 CA9 HIF1A VEGFA VHL
44 squamous cell carcinoma, head and neck 9.6 CA9 HIF1A TP63 VEGFA
45 acute mountain sickness 9.6 ENO2 HIF1A VEGFA VHL
46 clear cell renal cell carcinoma 9.6 CA9 EPAS1 HIF1A VEGFA VHL
47 congenital epulis 9.5 ENO2 LYZ S100A9
48 kidney cancer 9.2 CA9 CXCR4 EPAS1 HIF1A VEGFA VHL
49 nasopharyngeal carcinoma 9.2 CA9 CXCL12 CXCR4 HIF1A VEGFA
50 prostate cancer 8.6 CLU CXCR4 ENO2 HIF1A KRT18 SERPINA3

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:

43 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 CLU CXCL12 CXCR4 EPAS1 HIF1A LYZ
2 cellular MP:0005384 10.3 CXCL12 CXCR4 PAX2 PAX8 S100A9 TP63
3 mortality/aging MP:0010768 10.28 KRT18 LYZ PAX2 PAX8 S100A9 TP63
4 immune system MP:0005387 10.26 TP63 VEGFA VHL CA2 CA9 CLU
5 growth/size/body region MP:0005378 10.24 CA2 CXCR4 ENO2 EPAS1 HIF1A KRT18
6 endocrine/exocrine gland MP:0005379 10.21 VHL CA2 CA9 CXCR4 HIF1A LYZ
7 embryo MP:0005380 10.18 EPAS1 HIF1A KRT18 PAX2 PAX8 TP63
8 digestive/alimentary MP:0005381 10.14 CA2 CA9 CXCR4 HIF1A LYZ TP63
9 craniofacial MP:0005382 10.09 CXCR4 ENO2 HIF1A PAX8 TP63 VEGFA
10 nervous system MP:0003631 10.06 CA2 CLU CXCL12 CXCR4 ENO2 EPAS1
11 muscle MP:0005369 10.01 HIF1A TP63 VEGFA VHL CLU CXCL12
12 liver/biliary system MP:0005370 10 VHL CXCL12 EPAS1 HIF1A KRT18 LYZ
13 renal/urinary system MP:0005367 9.96 CA2 CLU CXCR4 HIF1A LYZ PAX2
14 neoplasm MP:0002006 9.85 CXCR4 HIF1A LYZ TP63 VEGFA VHL
15 reproductive system MP:0005389 9.81 CA2 CXCL12 CXCR4 PAX2 PAX8 PKDREJ
16 respiratory system MP:0005388 9.56 CA2 CXCR4 ENO2 EPAS1 HIF1A LYZ
17 skeleton MP:0005390 9.28 CA2 CXCR4 EPAS1 HIF1A LYZ PAX8

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

Search NIH Clinical Center for Retinal Hemangioblastoma

Genetic Tests for Retinal Hemangioblastoma

Anatomical Context for Retinal Hemangioblastoma

MalaCards organs/tissues related to Retinal Hemangioblastoma:

38
Endothelial, Retina, Eye

Publications for Retinal Hemangioblastoma

Articles related to Retinal Hemangioblastoma:

(show all 17)
# Title Authors Year
1
Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease. ( 28972023 )
2017
2
Retinal Hemangioblastoma and Syrinx in von Hippel-Lindau Disease. ( 28225727 )
2017
3
18F-FDG and 68Ga-DOTATATE PET/CT in von Hippel-Lindau Disease-Associated Retinal Hemangioblastoma. ( 28033220 )
2016
4
Upregulation of hypoxia-inducible factors and autophagy in von Hippel-Lindau-associated retinal hemangioblastoma. ( 24859386 )
2014
5
Retinal hemangioblastoma regression after single session of photodynamic therapy. ( 24676097 )
2014
6
Retinal hemangioblastoma. ( 24626823 )
2014
7
Scleral penetration of an unusually aggressive case of a retinal hemangioblastoma. ( 23931485 )
2013
8
Clinically unsuspected retinal hemangioblastoma in a blind eye as the initial manifestation of von Hippel-Lindau disease. ( 22281434 )
2012
9
Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma. ( 22763871 )
2012
10
Verteporfin photodynamic therapy for retinal hemangioblastoma associated with Von Hippel-Lindau disease in a 9-year-old child. ( 21040313 )
2011
11
Images in clinical medicine. Retinal hemangioblastoma in von Hippel-Lindau disease. ( 20818857 )
2010
12
Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. ( 17070589 )
2007
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

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 9.92 CA2 CLU CXCL12 ENO2 LYZ S100A9
2 extracellular exosome GO:0070062 9.85 CA2 CDC42 CLU CXCL12 CXCR4 ENO2
3 platelet alpha granule lumen GO:0031093 9.43 CLU SERPINA3 VEGFA
4 cell periphery GO:0071944 9.13 CDC42 CLU KRT18
5 protein complex GO:0043234 9.1 CDC42 CLU CXCR4 HIF1A PAX2 TP63

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.93 CDC42 HIF1A VEGFA VHL
2 negative regulation of apoptotic process GO:0043066 9.93 HIF1A KRT18 PAX2 TP63 VEGFA VHL
3 response to virus GO:0009615 9.84 CLU CXCL12 CXCR4
4 cellular response to hypoxia GO:0071456 9.83 EPAS1 HIF1A VEGFA
5 kidney development GO:0001822 9.83 CA2 PAX8 VEGFA
6 positive regulation of endothelial cell proliferation GO:0001938 9.8 CXCL12 HIF1A VEGFA
7 antimicrobial humoral response GO:0019730 9.77 CLU LYZ S100A9
8 macrophage differentiation GO:0030225 9.67 CDC42 VEGFA
9 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage GO:1902230 9.65 CLU CXCL12
10 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.65 HIF1A VEGFA
11 urogenital system development GO:0001655 9.64 PAX2 PAX8
12 induction of positive chemotaxis GO:0050930 9.64 CXCL12 VEGFA
13 mesonephros development GO:0001823 9.63 PAX2 PAX8
14 surfactant homeostasis GO:0043129 9.62 EPAS1 VEGFA
15 secretion GO:0046903 9.61 CA2 CA9
16 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.61 PAX2 PAX8
17 positive regulation of axon extension involved in axon guidance GO:0048842 9.6 CXCL12 VEGFA
18 regulation of transcription from RNA polymerase II promoter in response to oxidative stress GO:0043619 9.58 EPAS1 HIF1A
19 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.58 PAX2 PAX8
20 pronephros development GO:0048793 9.57 PAX2 PAX8
21 metanephric epithelium development GO:0072207 9.56 PAX2 PAX8
22 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.55 PAX2 PAX8
23 metanephric nephron tubule formation GO:0072289 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 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.48 PAX2 PAX8
27 positive regulation of metanephric DCT cell differentiation GO:2000594 9.43 PAX2 PAX8
28 negative regulation of apoptotic process involved in metanephric nephron tubule development GO:1900218 9.4 PAX2 PAX8
29 pronephric field specification GO:0039003 9.37 PAX2 PAX8
30 response to hypoxia GO:0001666 9.35 CXCL12 CXCR4 EPAS1 HIF1A VEGFA
31 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.33 PAX2 PAX8 VEGFA
32 negative regulation of apoptotic process involved in metanephric collecting duct development GO:1900215 9.32 PAX2 PAX8
33 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis GO:0072305 9.26 PAX2 PAX8
34 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.02 CA9 EPAS1 HIF1A VEGFA VHL
35 positive regulation of transcription, DNA-templated GO:0045893 10.06 HIF1A PAX2 PAX8 TP63 VHL
36 cell differentiation GO:0030154 10.04 CDC42 EPAS1 HIF1A PAX2 PAX8 TP63

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

# Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.26 EPAS1 HIF1A PAX8 TP63
2 carbonate dehydratase activity GO:0004089 9.16 CA2 CA9
3 transcription factor activity, transcription factor binding GO:0000989 8.62 HIF1A TP63
4 protein binding GO:0005515 10.16 CA2 CA9 CDC42 CLU CXCR4 ENO2

Sources for Retinal Hemangioblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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