MCID: RTN013
MIFTS: 40

Retinal Hemangioblastoma malady

Categories: Cancer diseases, Neuronal diseases, Cardiovascular diseases

Aliases & Classifications for Retinal Hemangioblastoma

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Aliases & Descriptions for Retinal Hemangioblastoma:

Name: Retinal Hemangioblastoma 10 12 65

Classifications:



External Ids:

Disease Ontology10 DOID:5240
NCIt42 C39783
UMLS65 C1514915

Summaries for Retinal Hemangioblastoma

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MalaCards based summary: Retinal Hemangioblastoma is related to hemangioblastoma and central nervous system endodermal sinus tumor. An important gene associated with Retinal Hemangioblastoma is EPAS1 (Endothelial PAS Domain Protein 1), and among its related pathways are Hypoxic and oxygen homeostasis regulation of HIF-1-alpha and Immune response_Oncostatin M signaling via JAK-Stat in human cells. Affiliated tissues include kidney, breast and thyroid, and related mouse phenotypes are tumorigenesis and liver/biliary system.

Related Diseases for Retinal Hemangioblastoma

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

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioblastoma23.2CA2, CA9, CDC42, CXCL12, CXCR4, ENO2
2central nervous system endodermal sinus tumor10.7PAX2, PAX8
3mesenteric lymphadenitis10.6EPAS1, VHL
4g6pc3 deficiency10.5HIF1A, VHL
5spastic ataxia 210.5PAX2, PAX8
6frontal sinus squamous cell carcinoma10.5LYZ, SERPINA3
7pediatric ovarian dysgerminoma10.5PAX2, PAX8, TP63
8autosomal dominant café au lait spots10.5CA2, ENO2
9breast pericanalicular fibroadenoma10.4KRT18, PAX2, PAX8
10olfactory nerve disease10.4LYZ, SERPINA3
11pancreatic cystadenoma10.4VEGFA, VHL
12erythrocytosis, familial, 210.4EPAS1, HIF1A, VHL
13retinitis10.4
14gastrointestinal system cancer10.4PAX2, PAX8
15lymph node palisaded myofibroblastoma10.4ENO2, LYZ
16aids dysmorphic syndrome10.3CXCL12, CXCR4
17whim syndrome10.3CXCL12, CXCR4
18thyroid malformation10.3EPAS1, HIF1A, VHL
19iodine antenatal infection10.3HIF1A, VEGFA
20pigmented villonodular synovitis10.3S100A9, SERPINA3
21t-cell large granular lymphocyte leukemia10.3CXCR4, PAX2
22renal artery obstruction10.2ENO2, LYZ
23uterine corpus atypical polypoid adenomyoma10.2LYZ, S100A9
24microscopic colitis10.2HIF1A, VEGFA
25acute vascular insufficiency of intestine10.2LYZ, SERPINA3
26malignant hypertensive renal disease10.2CA2, LYZ, VEGFA
27renal tubular transport disease10.2PAX2, PAX8, VEGFA
28petrous apex meningioma10.2ENO2, VEGFA
29epidural spinal canal angiolipoma10.2LYZ, PAX8
30sporadic pheochromocytoma/secreting paraganglioma10.1EPAS1, VHL
31integumentary system cancer10.1ENO2, LYZ, SERPINA3
32von hippel-lindau syndrome10.0HIF1A, VEGFA, VHL
33myocardial stunning10.0LYZ, S100A9, SERPINA3
34common bile duct neoplasm10.0ENO2, VEGFA
35retinal vein occlusion9.9CXCL12, HIF1A, VEGFA
36tuberculous uveitis9.9ENO2, LYZ, VEGFA
37liver sarcoma9.9CA9, PAX2, PAX8
38nezelof syndrome9.9ENO2, SERPINA3, VEGFA
39hepatocellular adenoma9.8CXCR4, HIF1A, VEGFA
40acquired hemangioma9.8CA9, VEGFA
41uterine corpus adenocarcinofibroma9.8ENO2, LYZ, S100A9
42angiomatosis9.8
43hypoxia9.8
44endotheliitis9.8
45hyperbiliverdinemia9.8ENO2, PAX2, PAX8
46hematopoietic stem cell transplantation9.8CXCL12, CXCR4, VEGFA
47acute myeloblastic leukemia with maturation9.6ENO2, HIF1A, VEGFA, VHL
48hilar cholangiocellular carcinoma9.6HIF1A, PAX2, PAX8, VEGFA, VHL
49granulomatous dermatitis9.5ENO2, LYZ, S100A9, SERPINA3
50clear cell adenocarcinoma9.3CA9, HIF1A, VEGFA, VHL

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



Diseases related to retinal hemangioblastoma

Symptoms for Retinal Hemangioblastoma

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Drugs & Therapeutics for Retinal Hemangioblastoma

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PancrelipaseapprovedPhase 288053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
2
Sunitinibapproved, investigationalPhase 2486341031-54-7, 557795-19-45329102
Synonyms:
(2S)-2-hydroxybutanedioic acid
1H-Pyrrole-3-carboxamide, N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-, (2S)-hydroxybutanedioate (1:1)
1H-Pyrrole-3-carboxamide, N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-, (2S)-hydroxybutanedioate (1:1)
326914-13-0
341031-54-7
5-(5-FLUORO-2-OXO-1,2-DIHYDRO-INDOL-3-YLIDENEMETHYL)-2,4-DIMETHYL-1H-PYRROLE-3-CARBOXYLIC ACID (2-DIETHYLAMINO-ETHYL)-AMIDE
557795-19-4
AC1NS62J
AC1O5CMQ
AKOS005145765
Butanedioic acid, hydroxy-, (2S)-, compd. with N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-1H-pyrrole-3-carboxamide (1:1)
CHEBI:38940
CHEBI:550864
CHEMBL1567
CHEMBL535
CID5329102
CID6456015
D06402
D08552
DB01268
DB07417
EN002687
FT-0083555
FT-0083556
I01-1229
K00588a
KS-5022
LS-186078
LS-187023
LS-187648
MolPort-003-986-763
N-(2-(Diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-1H-pyrrole-3-carboxamide (2S)-hydroxybutanedioate
N-(2-diethylaminoethyl)-5-[(Z)-(5-fluoro-2-oxo-1H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide
N-[2-(diethylamino)ethyl]-5-[(Z)-(5-fluoro-2-oxo-1,2-dihydro-3H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide
NCGC00164631-01
 
NSC736511
NSC750690
PDGF TK antagonist
PHA-290940AD
PNU-290940AD
S1042_Selleck
ST51053712
SU 011248
SU 11248
SU-010398
SU-011248 L-malate salt
SU-11248
SU-11248 L-malate salt
SU-11248J
SU-12662
SU010398
SU011248
SU011248 L-malate salt
SU11248
Su-011248
Sunitanib
Sunitinib
Sunitinib (INN)
Sunitinib (free base)
Sunitinib Malate
Sunitinib malate
Sunitinib malate (JAN/USAN)
Sunitinib malate [USAN]
Sunitinibum
Sutent
Sutent (TN)
Sutent, SU-11248
TL8002546
UNII-LVX8N1UT73
UNII-V99T50803M
sunitinib
sunitinibum
3
VatalanibinvestigationalPhase 240212141-54-3151194
Synonyms:
1-(4-chloroanilino)-4-(4-pyridylmethyl)phthalazine succinate
CGP79787
PTK 787
 
PTK/ZK
PTK787
PTK787/ZK 222584
ZK222584
vatalanib
4Protein Kinase InhibitorsPhase 23162
5Angiogenesis Modulating AgentsPhase 23611
6Angiogenesis InhibitorsPhase 23688
7pancreatinPhase 2880

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584CompletedNCT00052013Phase 2
2Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to FollowTerminatedNCT00330564Phase 2
3Endolymphatic 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 TumorsCompletedNCT00001668

Search NIH Clinical Center for Retinal Hemangioblastoma

Genetic Tests for Retinal Hemangioblastoma

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Anatomical Context for Retinal Hemangioblastoma

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MalaCards organs/tissues related to Retinal Hemangioblastoma:

33
Kidney, Breast, Thyroid, Lymph node, Liver, T cells, Cervix

Animal Models for Retinal Hemangioblastoma or affiliated genes

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MGI Mouse Phenotypes related to Retinal Hemangioblastoma:

38 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7CXCR4, HIF1A, LYZ, TP63, VEGFA, VHL
2MP:00053708.5CXCL12, EPAS1, HIF1A, KRT18, LYZ, VEGFA
3MP:00053898.3CA2, CXCL12, CXCR4, PAX2, PAX8, TP63
4MP:00053698.2CXCL12, CXCR4, EPAS1, HIF1A, TP63, VEGFA
5MP:00053888.1CXCR4, ENO2, EPAS1, HIF1A, LYZ, TP63
6MP:00053808.0CXCR4, EPAS1, HIF1A, KRT18, PAX2, PAX8
7MP:00053828.0CXCR4, ENO2, HIF1A, PAX8, TP63, VEGFA
8MP:00053677.8CA2, CXCR4, HIF1A, LYZ, PAX2, PAX8
9MP:00053907.6CA2, CXCR4, EPAS1, HIF1A, LYZ, PAX8
10MP:00053817.5CA2, CA9, CXCR4, HIF1A, LYZ, TP63
11MP:00036317.2CA2, CXCL12, CXCR4, ENO2, EPAS1, HIF1A
12MP:00053797.1CA2, CA9, CXCR4, HIF1A, LYZ, PAX2
13MP:00053857.0CXCL12, CXCR4, EPAS1, HIF1A, LYZ, PAX2
14MP:00053786.8CA2, CXCR4, ENO2, EPAS1, HIF1A, KRT18
15MP:00053876.5CA2, CXCL12, CXCR4, EPAS1, HIF1A, LYZ
16MP:00053846.5CXCL12, CXCR4, ENO2, HIF1A, LYZ, PAX2
17MP:00107685.3CA2, CA9, CXCL12, CXCR4, EPAS1, HIF1A

Publications for Retinal Hemangioblastoma

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Articles related to Retinal Hemangioblastoma:

(show all 14)
idTitleAuthorsYear
1
Retinal hemangioblastoma regression after single session of photodynamic therapy. (24676097)
2014
2
Retinal hemangioblastoma. (24626823)
2014
3
Upregulation of hypoxia-inducible factors and autophagy in von Hippel-Lindau-associated retinal hemangioblastoma. (24859386)
2014
4
Scleral penetration of an unusually aggressive case of a retinal hemangioblastoma. (23931485)
2013
5
Clinically unsuspected retinal hemangioblastoma in a blind eye as the initial manifestation of von Hippel-Lindau disease. (22281434)
2012
6
Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma. (22763871)
2012
7
Verteporfin photodynamic therapy for retinal hemangioblastoma associated with Von Hippel-Lindau disease in a 9-year-old child. (21040313)
2011
8
Images in clinical medicine. Retinal hemangioblastoma in von Hippel-Lindau disease. (20818857)
2010
9
Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. (17070589)
2007
10
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
11
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. (12202531)
2002
12
The two-stage mutation model in retinal hemangioblastoma. (9810567)
1998
13
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. (1741127)
1992
14
Juxtapapillary retinal hemangioblastoma (angiomatosis retinae) in an infant: light microscopical and ultrastructural examination. (7157495)
1982

Variations for Retinal Hemangioblastoma

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Expression for genes affiliated with Retinal Hemangioblastoma

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Search GEO for disease gene expression data for Retinal Hemangioblastoma.

Pathways for genes affiliated with Retinal Hemangioblastoma

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

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
19.8HIF1A, VHL
29.6SERPINA3, VEGFA
39.4CDC42, CXCL12, CXCR4
49.4PAX2, PAX8, VEGFA
59.3HIF1A, VEGFA, VHL
6
Show member pathways
9.3CDC42, CXCR4, VEGFA
79.2CXCR4, PAX2, VEGFA
89.0CXCR4, PAX2, TP63, VEGFA
9
Show member pathways
8.8CDC42, EPAS1, HIF1A, VEGFA, VHL
10
Show member pathways
8.8CDC42, EPAS1, HIF1A, VEGFA, VHL
118.7ENO2, HIF1A, VEGFA, VHL
12
Show member pathways
8.2CA9, EPAS1, HIF1A, VEGFA, VHL
137.9CA9, CXCL12, CXCR4, HIF1A, VEGFA
147.7CDC42, CXCL12, CXCR4, EPAS1, HIF1A, PAX8

GO Terms for genes affiliated with Retinal Hemangioblastoma

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of metanephric DCT cell differentiationGO:200059410.6PAX2, PAX8
2negative regulation of apoptotic process involved in metanephric collecting duct developmentGO:190021510.6PAX2, PAX8
3pronephric field specificationGO:003900310.6PAX2, PAX8
4positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesisGO:007210810.6PAX2, PAX8
5metanephric distal convoluted tubule developmentGO:007222110.6PAX2, PAX8
6negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesisGO:007230510.6PAX2, PAX8
7mesenchymal to epithelial transition involved in metanephros morphogenesisGO:000333710.6PAX2, PAX8
8regulation of transcription from RNA polymerase II promoter in response to oxidative stressGO:004361910.5EPAS1, HIF1A
9urogenital system developmentGO:000165510.5PAX2, PAX8
10metanephric epithelium developmentGO:007220710.5PAX2, PAX8
11response to X-rayGO:001016510.4HIF1A, TP63
12macrophage differentiationGO:003022510.3CDC42, VEGFA
13negative regulation of reactive oxygen species metabolic processGO:200037810.2HIF1A, PAX2
14positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.1PAX2, PAX8, VEGFA
15positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141910.1HIF1A, VEGFA
16induction of positive chemotaxisGO:005093010.0CXCL12, VEGFA
17surfactant homeostasisGO:00431299.9EPAS1, VEGFA
18secretionGO:00469039.8CA2, CA9
19one-carbon metabolic processGO:00067309.8CA2, CA9
20morphogenesis of an epitheliumGO:00020099.8CA2, CA9
21regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614189.8EPAS1, HIF1A, VEGFA
22cell differentiationGO:00301549.8EPAS1, HIF1A, PAX8, TP63
23response to hypoxiaGO:00016669.5CXCL12, CXCR4, EPAS1
24positive regulation of neuroblast proliferationGO:00020529.4HIF1A, VEGFA
25cellular response to hypoxiaGO:00714569.0HIF1A, VEGFA, VHL
26regulation of transcription, DNA-templatedGO:00063558.9EPAS1, HIF1A, PAX2, PAX8, TP63, VHL
27negative regulation of apoptotic processGO:00430668.7HIF1A, KRT18, PAX2, TP63, VEGFA, VHL
28positive regulation of transcription from RNA polymerase II promoterGO:00459448.5EPAS1, HIF1A, PAX2, PAX8, TP63, VEGFA

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

idNameGO IDScoreTop Affiliating Genes
1transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.6EPAS1, HIF1A, TP63

Sources for Retinal Hemangioblastoma

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet