MCID: RTN013
MIFTS: 31

Retinal Hemangioblastoma malady

Cancer diseases category

Aliases & Classifications for Retinal Hemangioblastoma

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Aliases & Descriptions for Retinal Hemangioblastoma:

Name: Retinal Hemangioblastoma 10 65


Classifications:



External Ids:

Disease Ontology10 DOID:5240
NCIt42 C39783

Summaries for Retinal Hemangioblastoma

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MalaCards based summary: Retinal Hemangioblastoma is related to hemangioblastoma and retinitis. 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 endothelial, retina and eye, and related mouse phenotypes are liver/biliary system and muscle.

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 all 49)
idRelated DiseaseScoreTop Affiliating Genes
1hemangioblastoma10.7
2retinitis10.7
3papillary transitional carcinoma10.3PAX2, PAX8
4g6pc3 deficiency10.2HIF1A, VHL
5uterine sarcoma10.2CXCL12, CXCR4
6peripartum cardiomyopathy10.2PAX2, PAX8, TP63
7papillary follicular thyroid adenocarcinoma10.2KRT18, PAX2, PAX8
8pancreatic serous cystic neoplasm10.1VEGFA, VHL
9descending colon cancer10.1LYZ, SERPINA3
10whim syndrome10.1CXCL12, CXCR4
11polyneuropathy10.1EPAS1, HIF1A, VHL
12aids dysmorphic syndrome10.1CXCL12, CXCR4
13angiomatosis10.1
14hypoxia10.1
15endotheliitis10.1
16mucinous adenofibroma10.1S100A9, SERPINA3
17lymph node palisaded myofibroblastoma10.1ENO2, LYZ
18multilocular cystic renal cell carcinoma10.1ENO2, KRT18
19petrous apex meningioma10.1ENO2, VEGFA
20autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to kiaa0226 deficiency10.0CA9, VHL
21wheat allergic reaction10.0LYZ, SERPINA3
22angiomatous meningioma10.0LYZ, S100A9
23neuroendocrine carcinoma10.0CA2, LYZ, VEGFA
24focal dystonia10.0CA2, LYZ, VEGFA
25central breast papilloma10.0ENO2, LYZ
26von hippel-lindau syndrome10.0HIF1A, VEGFA, VHL
27iodine antenatal infection10.0HIF1A, SERPINA3, VEGFA
28hemangioma of intra-abdominal structure10.0PAX2, PAX8, VEGFA, VHL
29retinal vein occlusion10.0CXCL12, HIF1A, VEGFA
30nodular prostate10.0CXCR4, PAX2
31obesity due to melanocortin 4 receptor deficiency10.0ENO2, VEGFA
32auricular cancer10.0CXCR4, HIF1A, VEGFA
33paranasal sinus sarcoma10.0CA9, PAX2, PAX8
34myocardial stunning9.9LYZ, S100A9, SERPINA3
35wilms tumor susceptibility-59.9ENO2, PAX2, PAX8
36renal pelvis transitional cell carcinoma9.9CA9, VEGFA
37tuberculous uveitis9.9ENO2, LYZ, VEGFA
38subacute leukemia9.9ENO2, VEGFA
39uterine corpus adenocarcinofibroma9.9ENO2, LYZ, S100A9
40acute myeloblastic leukemia with maturation9.8ENO2, HIF1A, VEGFA, VHL
41granulomatous dermatitis9.7ENO2, LYZ, S100A9, SERPINA3
42hyperlipoproteinemia type iii9.7CA9, HIF1A, VEGFA, VHL
43bladder cancer, somatic9.7CA9, KRT18, TP63, VEGFA
44squamous cell carcinoma, head and neck9.7CA9, HIF1A, TP63, VEGFA
45immune-mediated encephalomyelitis9.6CA9, EPAS1, HIF1A, VEGFA, VHL
46cleft lip and palate malrotation cardiopathy9.6CA9, HIF1A, PAX2, VEGFA, VHL
47kidney disease9.5CA9, EPAS1, HIF1A, PAX2, VEGFA, VHL
48renal cell carcinoma9.3CA9, CDC42, EPAS1, HIF1A, PAX2, PAX8
49juvenile rheumatoid arthritis8.0CA2, CA9, CDC42, CXCL12, CXCR4, ENO2

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sunitinibapproved, investigationalPhase 2472341031-54-7, 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
2
PancrelipaseapprovedPhase 283953608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
3
VatalanibinvestigationalPhase 239212141-54-3151194
Synonyms:
1-(4-chloroanilino)-4-(4-pyridylmethyl)phthalazine succinate
CGP79787
PTK 787
 
PTK/ZK
PTK787
PTK787/ZK 222584
ZK222584
vatalanib
4pancreatinPhase 2839

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
Endothelial, Retina, Eye

Animal Models for Retinal Hemangioblastoma or affiliated genes

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MGI Mouse Phenotypes related to Retinal Hemangioblastoma:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9CXCL12, EPAS1, HIF1A, KRT18, VEGFA, VHL
2MP:00053698.2CDC42, CXCL12, CXCR4, EPAS1, HIF1A, TP63
3MP:00053908.2CA2, CDC42, CXCR4, EPAS1, HIF1A, PAX8
4MP:00053828.1CDC42, CXCR4, ENO2, HIF1A, PAX8, TP63
5MP:00053888.0CDC42, CXCR4, ENO2, EPAS1, HIF1A, TP63
6MP:00053677.9CA2, CDC42, CXCR4, HIF1A, PAX2, PAX8
7MP:00053817.7CA2, CA9, CDC42, CXCR4, HIF1A, TP63
8MP:00053897.7CA2, CXCL12, CXCR4, PAX2, PAX8, TP63
9MP:00053807.7CDC42, CXCR4, EPAS1, HIF1A, KRT18, PAX2
10MP:00053787.6CA2, CDC42, CXCR4, EPAS1, HIF1A, KRT18
11MP:00053857.6CDC42, CXCL12, CXCR4, EPAS1, HIF1A, PAX2
12MP:00053797.2CA2, CA9, CDC42, HIF1A, PAX2, PAX8
13MP:00036317.0CA2, CDC42, CXCL12, CXCR4, ENO2, EPAS1
14MP:00053767.0CA2, CDC42, CXCR4, EPAS1, HIF1A, PAX8
15MP:00053846.7CDC42, CXCL12, CXCR4, ENO2, HIF1A, PAX2
16MP:00107685.6CA2, CA9, CDC42, CXCL12, CXCR4, EPAS1

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 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8HIF1A, VHL
29.6SERPINA3, VEGFA
39.5EPAS1, VEGFA, VHL
49.5CDC42, CXCL12, CXCR4
59.5CDC42, CXCL12, CXCR4
69.4PAX2, PAX8, VEGFA
79.3HIF1A, VEGFA, VHL
8
Show member pathways
9.3CDC42, CXCR4, VEGFA
9
Angiogenesis (CST)
Show member pathways
9.0CDC42, CXCR4, VEGFA
10
Show member pathways
8.8CDC42, EPAS1, HIF1A, VEGFA, VHL
11
Show member pathways
8.8CDC42, EPAS1, HIF1A, VEGFA, VHL
128.8ENO2, HIF1A, VEGFA, VHL
13
Show member pathways
8.3CA9, EPAS1, HIF1A, VEGFA, VHL
148.0CA9, CXCL12, CXCR4, HIF1A, VEGFA
157.8CDC42, CXCL12, CXCR4, EPAS1, HIF1A, PAX8

GO Terms for genes affiliated with Retinal Hemangioblastoma

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

idNameGO IDScoreTop Affiliating Genes
1centriolar satelliteGO:003445110.5KRT18, PAX2
2extracellular spaceGO:00056157.2CA2, CXCL12, ENO2, LYZ, S100A9, SERPINA3
3extracellular exosomeGO:00700627.1CA2, CDC42, CXCL12, CXCR4, ENO2, KRT18

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

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1pronephric field specificationGO:003900310.6PAX2, PAX8
2positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesisGO:007210810.6PAX2, PAX8
3metanephric nephron tubule formationGO:007228910.6PAX2, PAX8
4negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesisGO:007230510.6PAX2, PAX8
5negative regulation of mesenchymal cell apoptotic process involved in metanephros developmentGO:190021210.6PAX2, PAX8
6negative regulation of apoptotic process involved in metanephric collecting duct developmentGO:190021510.6PAX2, PAX8
7negative regulation of apoptotic process involved in metanephric nephron tubule developmentGO:190021810.6PAX2, PAX8
8positive regulation of metanephric DCT cell differentiationGO:200059410.6PAX2, PAX8
9urogenital system developmentGO:000165510.6PAX2, PAX8
10mesenchymal to epithelial transition involved in metanephros morphogenesisGO:000333710.6PAX2, PAX8
11regulation of metanephric nephron tubule epithelial cell differentiationGO:007230710.5PAX2, PAX8
12metanephric epithelium developmentGO:007220710.5PAX2, PAX8
13mesonephros developmentGO:000182310.5PAX2, PAX8
14metanephric distal convoluted tubule developmentGO:007222110.5PAX2, PAX8
15regulation of transcription from RNA polymerase II promoter in response to oxidative stressGO:004361910.5EPAS1, HIF1A
16pronephros developmentGO:004879310.4PAX2, PAX8
17surfactant homeostasisGO:004312910.4EPAS1, VEGFA
18dopaminergic neuron differentiationGO:007154210.2HIF1A, VEGFA
19negative regulation of reactive oxygen species metabolic processGO:200037810.2HIF1A, PAX2
20positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141910.2HIF1A, VEGFA
21positive regulation of neuroblast proliferationGO:000205210.2HIF1A, VEGFA
22positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.1HIF1A, VEGFA
23macrophage differentiationGO:003022510.1CDC42, VEGFA
24secretionGO:004690310.1CA2, CA9
25positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.0PAX2, PAX8, VEGFA
26induction of positive chemotaxisGO:005093010.0CXCL12, VEGFA
27positive regulation of axon extension involved in axon guidanceGO:00488429.7CXCL12, VEGFA
28kidney developmentGO:00018229.7CA2, PAX8, VEGFA
29positive regulation of endothelial cell proliferationGO:00019389.6CXCL12, HIF1A, VEGFA
30positive regulation of transcription, DNA-templatedGO:00458939.3HIF1A, PAX2, PAX8, TP63, VHL
31inflammatory responseGO:00069549.0CXCR4, LYZ, S100A9, SERPINA3
32regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614188.9CA9, EPAS1, HIF1A, VEGFA, VHL
33transcription from RNA polymerase II promoterGO:00063668.8EPAS1, HIF1A, PAX2, PAX8, TP63
34negative regulation of apoptotic processGO:00430668.7HIF1A, KRT18, PAX2, TP63, VEGFA, VHL
35positive regulation of transcription from RNA polymerase II promoterGO:00459448.5EPAS1, HIF1A, PAX2, PAX8, TP63, VEGFA
36cellular response to hypoxiaGO:00714568.3CA9, EPAS1, HIF1A, VEGFA, VHL
37response to hypoxiaGO:00016667.7CA9, CXCL12, CXCR4, EPAS1, HIF1A, VEGFA

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, transcription factor bindingGO:00009899.9HIF1A, TP63
2carbonate dehydratase activityGO:00040899.7CA2, CA9
3transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.5EPAS1, HIF1A, PAX8, TP63
4transcription factor bindingGO:00081349.3EPAS1, HIF1A, PAX2, VHL

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