MCID: RTN013
MIFTS: 37

Retinal Hemangioblastoma malady

Categories: Cancer diseases, Cardiovascular diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Retinal Hemangioblastoma

Aliases & Descriptions for Retinal Hemangioblastoma:

Name: Retinal Hemangioblastoma 12 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:5240
NCIt 47 C39783
UMLS 69 C1514915

Summaries for Retinal Hemangioblastoma

MalaCards based summary : Retinal Hemangioblastoma is related to kimura disease and retinitis. An important gene associated with Retinal Hemangioblastoma is EPAS1 (Endothelial PAS Domain Protein 1), and among its related pathways/superpathways are Development HGF signaling pathway and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Pancrelipase and Sunitinib 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 all 43)
id Related Disease Score Top Affiliating Genes
1 kimura disease 10.3 PAX2 PAX8
2 retinitis 10.3
3 hemangioblastoma 10.3
4 connective tissue disease 10.3 PAX2 PAX8
5 ovarian primitive germ cell tumor 10.2 PAX2 PAX8
6 superficial urinary bladder cancer 10.2 PAX2 PAX8 TP63
7 gastrointestinal neuroendocrine tumor 10.2 PAX2 PAX8
8 atrioventricular septal defect 2 10.2 EPAS1 HIF1A VHL
9 autosomal dominant medullary cystic kidney disease without hyperuricemia 10.1 CA2 ENO2
10 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 10.1 HIF1A VHL
11 cranial nerve disease 10.1 ENO2 PAX2 PAX8
12 appendicitis 10.1 ENO2 LYZ
13 zollinger-ellison syndrome 10.1 ENO2 EPAS1 VHL
14 malignant adult ependymoma 10.1 KRT18 LYZ SERPINA3
15 endobronchial lipoma 10.1 CA2 LYZ VEGFA
16 sacrococcygeal teratoma 10.1 CXCL12 HIF1A VEGFA
17 isolated anterior cervical hypertrichosis 10.1 HIF1A SERPINA3 VEGFA
18 oppositional defiant disorder 10.1 CXCL12 HIF1A VEGFA
19 intestinal impaction 10.0 EPAS1 HIF1A VHL
20 alternating exotropia 10.0 LYZ PKDREJ SERPINA3
21 bulbar polio 10.0 LYZ S100A9 SERPINA3
22 neuromuscular disease 10.0 LYZ S100A9 SERPINA3
23 erythrocytosis, familial, 2 10.0 HIF1A VEGFA VHL
24 ulcerative proctitis 10.0 ENO2 LYZ VEGFA
25 gestational choriocarcinoma 10.0 ENO2 SERPINA3 VEGFA
26 granular cell leiomyosarcoma 10.0 ENO2 PAX2 VEGFA VHL
27 lymphatic system disease 9.9 ENO2 VEGFA
28 jewett-marshall bladder cancer 9.9 ENO2 LYZ S100A9
29 malignant giant cell tumor of the tendon sheath 9.9 S100A9 SERPINA3
30 acute posterior multifocal placoid pigment epitheliopathy 9.9 ENO2 HIF1A VEGFA VHL
31 thyroid carcinoma, papillary, with papillary renal neoplasia 9.9 CA2 CA9 PAX8
32 nodular tenosynovitis 9.9 CA9 KRT18 PAX2 PAX8
33 hole retinal cyst 9.8 CA9 ENO2 HIF1A
34 sarcomatoid renal cell carcinoma 9.8 CA9 HIF1A VEGFA VHL
35 hypogonadotropic hypogonadism 20 with or without anosmia 9.7 CA9 HIF1A TP63 VEGFA
36 cleft palate cardiac defect ectrodactyly 9.7 CA9 EPAS1 HIF1A VEGFA VHL
37 ovarian brenner tumor 9.7 CA9 EPAS1 HIF1A VEGFA VHL
38 mini stroke 9.7 CA9 EPAS1 HIF1A VEGFA VHL
39 angiomatosis 9.7
40 hypoxia 9.7
41 endotheliitis 9.7
42 bernard-soulier syndrome, type c 9.4 CA9 CLU EPAS1 HIF1A PAX2 PAX8
43 central nervous system leiomyosarcoma 7.9 CA2 CA9 CDC42 CLU CXCL12 CXCR4

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:

44 (show all 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 VHL CLU CXCL12 CXCR4 EPAS1 HIF1A
2 cellular MP:0005384 10.3 CXCL12 CXCR4 VHL ENO2 HIF1A LYZ
3 mortality/aging MP:0010768 10.28 CA2 CA9 CXCL12 CXCR4 EPAS1 HIF1A
4 immune system MP:0005387 10.26 CA2 CA9 CLU CXCL12 CXCR4 EPAS1
5 growth/size/body region MP:0005378 10.24 CA2 CXCR4 ENO2 EPAS1 HIF1A KRT18
6 endocrine/exocrine gland MP:0005379 10.21 CA9 CXCR4 HIF1A LYZ PAX2 PAX8
7 embryo MP:0005380 10.18 CXCR4 EPAS1 HIF1A KRT18 PAX2 PAX8
8 digestive/alimentary MP:0005381 10.14 CA9 CXCR4 HIF1A LYZ TP63 VEGFA
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 CLU CXCL12 CXCR4 EPAS1 HIF1A TP63
12 liver/biliary system MP:0005370 10 LYZ VEGFA VHL CXCL12 EPAS1 HIF1A
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 CXCR4 PAX2 PAX8 PKDREJ TP63 VEGFA
16 respiratory system MP:0005388 9.5 CXCR4 ENO2 EPAS1 HIF1A LYZ TP63
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):

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved Phase 2 53608-75-6
2
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
3
Vatalanib Investigational Phase 2 212141-54-3 151194
4 Protein Kinase Inhibitors Phase 2
5 Angiogenesis Inhibitors Phase 2
6 Angiogenesis Modulating Agents Phase 2
7 pancreatin Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584 Completed NCT00052013 Phase 2
2 Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to Follow Terminated NCT00330564 Phase 2
3 Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors Completed NCT00001668

Search NIH Clinical Center for Retinal Hemangioblastoma

Genetic Tests for Retinal Hemangioblastoma

Anatomical Context for Retinal Hemangioblastoma

MalaCards organs/tissues related to Retinal Hemangioblastoma:

39
Eye, Endothelial, Retina

Publications for Retinal Hemangioblastoma

Articles related to Retinal Hemangioblastoma:

(show all 15)
id Title Authors Year
1
18F-FDG and 68Ga-DOTATATE PET/CT in von Hippel-Lindau Disease-Associated Retinal Hemangioblastoma. ( 28033220 )
2016
2
Retinal hemangioblastoma regression after single session of photodynamic therapy. ( 24676097 )
2014
3
Retinal hemangioblastoma. ( 24626823 )
2014
4
Upregulation of hypoxia-inducible factors and autophagy in von Hippel-Lindau-associated retinal hemangioblastoma. ( 24859386 )
2014
5
Scleral penetration of an unusually aggressive case of a retinal hemangioblastoma. ( 23931485 )
2013
6
Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma. ( 22763871 )
2012
7
Clinically unsuspected retinal hemangioblastoma in a blind eye as the initial manifestation of von Hippel-Lindau disease. ( 22281434 )
2012
8
Verteporfin photodynamic therapy for retinal hemangioblastoma associated with Von Hippel-Lindau disease in a 9-year-old child. ( 21040313 )
2011
9
Images in clinical medicine. Retinal hemangioblastoma in von Hippel-Lindau disease. ( 20818857 )
2010
10
Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. ( 17070589 )
2007
11
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
12
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. ( 12202531 )
2002
13
The two-stage mutation model in retinal hemangioblastoma. ( 9810567 )
1998
14
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. ( 1741127 )
1992
15
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 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 CDC42 EPAS1 HIF1A VEGFA VHL
2 11.83 CXCR4 PAX2 TP63 VEGFA
3 11.82 CDC42 CXCL12 CXCR4 EPAS1 HIF1A PAX8
4 11.62 ENO2 HIF1A VEGFA VHL
5
Show member pathways
11.62 CDC42 EPAS1 HIF1A VEGFA VHL
6 11.57 CXCR4 PAX2 VEGFA
7 11.37 HIF1A VEGFA VHL
8 11.37 CA9 CXCL12 CXCR4 HIF1A VEGFA
9 11.29 CDC42 CXCL12 CXCR4
10 11.08 EPAS1 VEGFA VHL
11 10.74 PAX2 PAX8
12 10.7 HIF1A VHL
13 10.49 CXCR4 EPAS1 VEGFA VHL
14 10.43 HIF1A VEGFA

GO Terms for Retinal Hemangioblastoma

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.85 CA2 CDC42 CLU CXCL12 CXCR4 ENO2
2 protein complex GO:0043234 9.72 CLU CXCR4 HIF1A PAX2 TP63
3 platelet alpha granule lumen GO:0031093 9.43 CLU SERPINA3 VEGFA
4 extracellular space GO:0005615 9.23 CA2 CLU CXCL12 ENO2 LYZ S100A9
5 cell periphery GO:0071944 9.13 CDC42 CLU KRT18

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

(show all 37)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.93 HIF1A KRT18 PAX2 TP63 VEGFA VHL
2 response to virus GO:0009615 9.85 CLU CXCL12 CXCR4
3 cellular response to hypoxia GO:0071456 9.83 EPAS1 HIF1A VEGFA
4 kidney development GO:0001822 9.83 CA2 PAX8 VEGFA
5 positive regulation of endothelial cell proliferation GO:0001938 9.8 CXCL12 HIF1A VEGFA
6 antimicrobial humoral response GO:0019730 9.77 CLU LYZ S100A9
7 morphogenesis of an epithelium GO:0002009 9.67 CA2 CA9
8 macrophage differentiation GO:0030225 9.66 CDC42 VEGFA
9 urogenital system development GO:0001655 9.65 PAX2 PAX8
10 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage GO:1902230 9.64 CLU CXCL12
11 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.64 HIF1A VEGFA
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 positive regulation of axon extension involved in axon guidance GO:0048842 9.61 CXCL12 VEGFA
17 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.6 PAX2 PAX8
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 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.54 HIF1A VEGFA
24 metanephric nephron tubule formation GO:0072289 9.52 PAX2 PAX8
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 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis GO:0072305 9.43 PAX2 PAX8
28 negative regulation of apoptotic process involved in metanephric nephron tubule development GO:1900218 9.4 PAX2 PAX8
29 positive regulation of metanephric DCT cell differentiation GO:2000594 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 pronephric field specification GO:0039003 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 transcription from RNA polymerase II promoter GO:0006366 10.06 EPAS1 HIF1A PAX2 PAX8 TP63
37 cell differentiation GO:0030154 10.04 CDC42 EPAS1 HIF1A PAX2 PAX8 TP63

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.56 EPAS1 HIF1A PAX2 VHL
2 transcription factor activity, transcription factor binding GO:0000989 9.16 HIF1A TP63
3 carbonate dehydratase activity GO:0004089 8.96 CA2 CA9
4 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 8.92 EPAS1 HIF1A PAX8 TP63

Sources for Retinal Hemangioblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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