MCID: RTN013
MIFTS: 38

Retinal Hemangioblastoma

Categories: Neuronal diseases, Cancer diseases, Eye 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 hypoxia. 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 eye, endothelial and retina, 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 55)
# Related Disease Score Top Affiliating Genes
1 hemangioblastoma 30.4 ENO2 PAX2 VEGFA VHL
2 hypoxia 28.9 CA9 EPAS1 HIF1A VEGFA VHL
3 nephrogenic adenoma of urinary bladder 10.9 PAX2 PAX8
4 rete testis adenoma 10.9 PAX2 PAX8
5 childhood endodermal sinus tumor 10.8 PAX2 PAX8
6 bladder benign neoplasm 10.8 PAX2 PAX8
7 fumarate hydratase deficiency 10.6 HIF1A VHL
8 ovarian brenner tumor 10.5 KRT18 PAX2 PAX8
9 erythrocytosis, familial, 2 10.5 EPAS1 HIF1A VHL
10 tenosynovial giant cell tumor 10.5 CLU SERPINA3
11 kidney papillary necrosis 10.5 CLU LYZ
12 critical limb ischemia 10.4 HIF1A VEGFA
13 ameloblastic carcinoma 10.4 HIF1A TP63
14 autoimmune retinopathy 10.4 CA2 ENO2
15 retinitis 10.4
16 nephrogenic adenoma 10.4 PAX2 PAX8
17 pancreatic serous cystadenoma 10.4 VEGFA VHL
18 dermis tumor 10.4 LYZ SERPINA3
19 neuroretinitis 10.4 CA2 LYZ VEGFA
20 clear cell papillary renal cell carcinoma 10.4 CA9 VHL
21 polycythemia 10.4 EPAS1 HIF1A VHL
22 intravascular papillary endothelial hyperplasia 10.3 HIF1A SERPINA3 VEGFA
23 xanthogranulomatous pyelonephritis 10.3 LYZ PKDREJ SERPINA3
24 microcystic adenoma 10.3 ENO2 VHL
25 von hippel-lindau syndrome 10.3 HIF1A VEGFA VHL
26 large cell carcinoma with rhabdoid phenotype 10.2 ENO2 VEGFA
27 congenital granular cell tumor 10.2 ENO2 LYZ
28 epithelioid leiomyosarcoma 10.2 ENO2 SERPINA3
29 renal pelvis carcinoma 10.2 CA9 PAX8 VEGFA
30 rete testis neoplasm 10.2 ENO2 PAX2 PAX8
31 auditory system cancer 10.2 ENO2 LYZ
32 nodular tenosynovitis 10.1 S100A9 SERPINA3
33 renal cell carcinoma, papillary, 1 10.1 CA2 CA9 PAX8 VHL
34 retinal ischemia 10.0 CXCL12 HIF1A VEGFA
35 limb ischemia 10.0 CXCL12 HIF1A VEGFA
36 connective tissue cancer 10.0 ENO2 SERPINA3 VEGFA
37 nephrogenic adenofibroma 10.0 CA9 KRT18 PAX2 PAX8
38 pleomorphic adenoma carcinoma 9.9 ENO2 LYZ
39 adult xanthogranuloma 9.9 LYZ S100A9
40 tuberculous meningitis 9.9 ENO2 LYZ VEGFA
41 macular retinal edema 9.8
42 angiomatosis 9.8
43 endotheliitis 9.8
44 pineal gland cancer 9.7 ENO2 KRT18
45 reticulohistiocytic granuloma 9.7 LYZ S100A9 SERPINA3
46 xanthogranulomatous cholecystitis 9.7 LYZ S100A9 SERPINA3
47 clear cell renal cell carcinoma 9.7 CA9 HIF1A VEGFA VHL
48 acute mountain sickness 9.6 ENO2 HIF1A VEGFA VHL
49 nodular prostate 9.6 CA9 ENO2 HIF1A
50 squamous cell carcinoma, head and neck 9.6 CA9 HIF1A TP63 VEGFA

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

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, Retina

Publications for Retinal Hemangioblastoma

Articles related to Retinal Hemangioblastoma:

(show all 19)
# 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
Systemic Sunitinib Malate Treatment for Advanced Juxtapapillary Retinal Hemangioblastomas Associated with von Hippel-Lindau Disease. ( 28670632 )
2017
5
18F-FDG and 68Ga-DOTATATE PET/CT in von Hippel-Lindau Disease-Associated Retinal Hemangioblastoma. ( 28033220 )
2016
6
Retinal hemangioblastoma. ( 24626823 )
2014
7
Upregulation of hypoxia-inducible factors and autophagy in von Hippel-Lindau-associated retinal hemangioblastoma. ( 24859386 )
2014
8
Retinal hemangioblastoma regression after single session of photodynamic therapy. ( 24676097 )
2014
9
Scleral penetration of an unusually aggressive case of a retinal hemangioblastoma. ( 23931485 )
2013
10
Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma. ( 22763871 )
2012
11
Clinically unsuspected retinal hemangioblastoma in a blind eye as the initial manifestation of von Hippel-Lindau disease. ( 22281434 )
2012
12
Verteporfin photodynamic therapy for retinal hemangioblastoma associated with Von Hippel-Lindau disease in a 9-year-old child. ( 21040313 )
2011
13
Images in clinical medicine. Retinal hemangioblastoma in von Hippel-Lindau disease. ( 20818857 )
2010
14
Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. ( 17070589 )
2007
15
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
16
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. ( 12202531 )
2002
17
The two-stage mutation model in retinal hemangioblastoma. ( 9810567 )
1998
18
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. ( 1741127 )
1992
19
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
Show member pathways
12.21 CDC42 EPAS1 HIF1A VEGFA VHL
3 11.86 CXCR4 PAX2 TP63 VEGFA
4
Show member pathways
11.78 CDC42 CXCR4 VEGFA
5 11.62 ENO2 HIF1A VEGFA VHL
6
Show member pathways
11.62 CDC42 EPAS1 HIF1A VEGFA VHL
7 11.58 CXCR4 PAX2 VEGFA
8 11.39 HIF1A VEGFA VHL
9 11.31 CDC42 CXCL12 CXCR4
10 11.17 CA9 CXCL12 CXCR4 HIF1A VEGFA
11 11.11 EPAS1 VEGFA VHL
12 10.84 SERPINA3 VEGFA
13 10.74 PAX2 PAX8
14 10.7 HIF1A VHL
15 10.45 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 9.32 CA2 CDC42 CLU CXCL12 CXCR4 ENO2
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 37)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.95 HIF1A KRT18 PAX2 TP63 VEGFA VHL
2 cellular response to hypoxia GO:0071456 9.84 EPAS1 HIF1A VEGFA
3 response to virus GO:0009615 9.83 CLU CXCL12 CXCR4
4 kidney development GO:0001822 9.82 CA2 PAX8 VEGFA
5 positive regulation of endothelial cell proliferation GO:0001938 9.79 CXCL12 HIF1A VEGFA
6 antimicrobial humoral response GO:0019730 9.77 CLU LYZ S100A9
7 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.67 HIF1A VEGFA
8 morphogenesis of an epithelium GO:0002009 9.67 CA2 CA9
9 macrophage differentiation GO:0030225 9.66 CDC42 VEGFA
10 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage GO:1902230 9.64 CLU CXCL12
11 urogenital system development GO:0001655 9.64 PAX2 PAX8
12 induction of positive chemotaxis GO:0050930 9.63 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 pronephros development GO:0048793 9.58 PAX2 PAX8
19 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.58 PAX2 PAX8
20 regulation of transcription from RNA polymerase II promoter in response to oxidative stress GO:0043619 9.57 EPAS1 HIF1A
21 metanephric epithelium development GO:0072207 9.56 PAX2 PAX8
22 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.55 HIF1A VEGFA
23 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.52 PAX2 PAX8
24 metanephric nephron tubule formation GO:0072289 9.51 PAX2 PAX8
25 metanephric distal convoluted tubule development GO:0072221 9.49 PAX2 PAX8
26 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.46 PAX2 PAX8
27 pronephric field specification GO:0039003 9.43 PAX2 PAX8
28 positive regulation of metanephric DCT cell differentiation GO:2000594 9.4 PAX2 PAX8
29 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis GO:0072305 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 apoptotic process involved in metanephric nephron tubule development GO:1900218 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 cell differentiation GO:0030154 10.08 CDC42 EPAS1 HIF1A PAX2 PAX8 TP63
36 transcription by RNA polymerase II GO:0006366 10.06 EPAS1 HIF1A PAX2 PAX8 TP63
37 positive regulation of transcription, DNA-templated GO:0045893 10.05 HIF1A PAX2 PAX8 TP63 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 CDC42 CLU CXCR4 ENO2
2 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.26 EPAS1 HIF1A PAX8 TP63
3 carbonate dehydratase activity GO:0004089 9.16 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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