MCID: RTN013
MIFTS: 37

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 11 13 66

Classifications:



External Ids:

Disease Ontology11 DOID:5240
NCIt43 C39783

Summaries for Retinal Hemangioblastoma

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MalaCards based summary: Retinal Hemangioblastoma is related to pediatric ovarian dysgerminoma and biliary tract neoplasm. 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 neoplasm 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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1pediatric ovarian dysgerminoma10.7PAX2, PAX8
2biliary tract neoplasm10.7PAX2, PAX8
3testicular yolk sac tumor10.7PAX2, PAX8
4ovarian stromal hyperthecosis10.5PAX2, PAX8, TP63
5gars-associated axonal neuropathy10.5HIF1A, VHL
6central nervous system vasculitis10.5PAX2, PAX8, VHL
7mucinoses10.5CLU, SERPINA3
8erythrocytosis, familial, 210.4EPAS1, HIF1A, VHL
9hemangiopericytoma10.4KRT18, PAX2, PAX8
10retinitis10.4
11hemangioblastoma10.4
12nonossifying fibromyxoid tumor10.3ENO2, LYZ
13hyperpituitarism10.3LYZ, SERPINA3
14pancreatic serous cystic neoplasm10.3VEGFA, VHL
15malignant adenofibroma10.3LYZ, SERPINA3
16retroperitoneal germ cell neoplasm10.3KRT18, LYZ, SERPINA3
17synovitis10.2S100A9, SERPINA3
18ischemic optic neuropathy10.2CXCL12, CXCR4
19adenosquamous bile duct carcinoma10.2CLU, LYZ
20endobronchial lipoma10.2CA2, LYZ, VEGFA
21disease_ontology10.2CXCL12, CXCR4
22luteoma10.1LYZ, S100A9
23whim syndrome10.1CXCL12, CXCR4
24cervical keratinizing squamous cell carcinoma10.1ENO2, VEGFA
25iridogoniodysgenesis and skeletal anomalies10.1HIF1A, SERPINA3, VEGFA
26global developmental delay-lung cysts-overgrowth-wilms tumor syndrome10.1CA9, VHL
27von hippel-lindau syndrome10.0HIF1A, VEGFA, VHL
28pustulosis of palm and sole10.0LYZ, S100A9, SERPINA3
29heart aneurysm10.0LYZ, S100A9, SERPINA3
30pericoronitis9.9LYZ, SERPINA3
31renal cell carcinoma, papillary9.9CA2, CA9, PAX8
32richter's syndrome9.9ENO2, PAX8, VEGFA
33placental choriocarcinoma9.9ENO2, SERPINA3, VEGFA
34kidney cortex necrosis9.9ENO2, LYZ
35t-cell lymphoma 1a9.9ENO2, LYZ, VEGFA
36angiomatosis9.8
37hypoxia9.8
38endotheliitis9.8
39hematopoietic stem cell transplantation9.8ENO2, HIF1A, VEGFA
40skene gland carcinoma9.8ENO2, LYZ, S100A9
41mucinous adenofibroma9.7CA9, KRT18, PAX2, PAX8
42acute myeloblastic leukemia without maturation9.7ENO2, HIF1A, VEGFA, VHL
43eccrine adenocarcinoma9.5CA9, VEGFA
44renal tubular transport disease9.4CA9, HIF1A, VEGFA, VHL
45cystadenoma9.2CA9, EPAS1, HIF1A, VEGFA, VHL
46intracranial cysts9.2CA9, EPAS1, HIF1A, VEGFA, VHL
47villous adenoma9.1CA9, CXCR4, HIF1A, VEGFA
48verloove vanhorick brubakk syndrome8.9CA9, EPAS1, HIF1A, PAX2, VEGFA, VHL
49renal cell carcinoma8.4CA9, CLU, EPAS1, HIF1A, PAX2, PAX8
50hilar cholangiocellular carcinoma4.8CA2, CA9, CDC42, CLU, CXCL12, CXCR4

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
VatalanibPhase 240212141-54-3151194
Synonyms:
1-(4-chloroanilino)-4-(4-pyridylmethyl)phthalazine succinate
CGP79787
PTK 787
 
PTK/ZK
PTK787
PTK787/ZK 222584
ZK222584
vatalanib
2
SunitinibPhase 2493341031-54-7, 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 (JAN/USAN)
Sunitinib malate [USAN]
Sunitinibum
Sutent
Sutent (TN)
Sutent, SU-11248
TL8002546
UNII-LVX8N1UT73
UNII-V99T50803M
sunitinib
sunitinibum
3pancreatinPhase 2917
4
PancrelipasePhase 291753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)

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:

34
Endothelial, Retina, Eye

Animal Models for Retinal Hemangioblastoma or affiliated genes

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MGI Mouse Phenotypes related to Retinal Hemangioblastoma:

39 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7CXCR4, HIF1A, LYZ, TP63, VEGFA, VHL
2MP:00053708.6CXCL12, EPAS1, HIF1A, KRT18, LYZ, VEGFA
3MP:00053918.5EPAS1, HIF1A, PAX2, PAX8, TP63, VEGFA
4MP:00053828.4CXCR4, ENO2, HIF1A, PAX8, TP63, VEGFA
5MP:00053898.3CA2, CXCL12, CXCR4, PAX2, PAX8, TP63
6MP:00053888.2CXCR4, ENO2, EPAS1, HIF1A, LYZ, TP63
7MP:00053698.1CLU, CXCL12, CXCR4, EPAS1, HIF1A, TP63
8MP:00053808.0CXCR4, EPAS1, HIF1A, KRT18, PAX2, PAX8
9MP:00053907.7CA2, CXCR4, EPAS1, HIF1A, LYZ, PAX8
10MP:00053817.6CA2, CA9, CXCR4, HIF1A, LYZ, TP63
11MP:00053677.3CA2, CLU, CXCR4, HIF1A, LYZ, PAX2
12MP:00053857.1CLU, CXCL12, CXCR4, EPAS1, HIF1A, LYZ
13MP:00053877.0CA2, CLU, CXCL12, CXCR4, EPAS1, HIF1A
14MP:00053796.9CA2, CA9, CXCR4, HIF1A, LYZ, PAX2
15MP:00036316.8CA2, CLU, CXCL12, CXCR4, ENO2, EPAS1
16MP:00053786.7CA2, CXCR4, ENO2, EPAS1, HIF1A, KRT18
17MP:00053846.7CXCL12, CXCR4, ENO2, HIF1A, LYZ, PAX2
18MP:00053766.4CA2, CLU, CXCR4, EPAS1, HIF1A, LYZ
19MP:00107685.4CA2, 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 16)
idSuper pathwaysScoreTop Affiliating Genes
19.9HIF1A, VHL
29.7SERPINA3, VEGFA
39.5PAX2, PAX8, VEGFA
49.4HIF1A, VEGFA, VHL
59.3CDC42, CXCL12, CXCR4
69.3CXCR4, PAX2, VEGFA
7
Show member pathways
9.2CDC42, CXCR4, VEGFA
8
Show member pathways
9.1CA9, HIF1A, VHL
99.0CXCR4, PAX2, TP63, VEGFA
10
Show member pathways
8.9CDC42, EPAS1, HIF1A, VEGFA, VHL
11
Show member pathways
8.9CDC42, EPAS1, HIF1A, VEGFA, VHL
128.8ENO2, HIF1A, VEGFA, VHL
138.8CA2, CLU, CXCR4, ENO2, VHL
14
Show member pathways
8.3CA9, EPAS1, HIF1A, VEGFA, VHL
157.9CA9, CXCL12, CXCR4, HIF1A, VEGFA
167.8CDC42, 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
1platelet alpha granule lumenGO:003109310.0CLU, SERPINA3, VEGFA
2extracellular spaceGO:00056157.0CA2, CLU, CXCL12, ENO2, LYZ, S100A9
3extracellular exosomeGO:00700626.7CA2, CDC42, CLU, CXCL12, CXCR4, ENO2

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

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesisGO:007230510.7PAX2, PAX8
2negative regulation of apoptotic process involved in metanephric nephron tubule developmentGO:190021810.7PAX2, PAX8
3negative regulation of apoptotic process involved in metanephric collecting duct developmentGO:190021510.7PAX2, PAX8
4positive regulation of metanephric DCT cell differentiationGO:200059410.7PAX2, PAX8
5positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesisGO:007210810.7PAX2, PAX8
6pronephric field specificationGO:003900310.7PAX2, PAX8
7metanephric nephron tubule formationGO:007228910.7PAX2, PAX8
8urogenital system developmentGO:000165510.7PAX2, PAX8
9negative regulation of mesenchymal cell apoptotic process involved in metanephros developmentGO:190021210.7PAX2, PAX8
10metanephric epithelium developmentGO:007220710.7PAX2, PAX8
11regulation of metanephric nephron tubule epithelial cell differentiationGO:007230710.7PAX2, PAX8
12mesenchymal to epithelial transition involved in metanephros morphogenesisGO:000333710.6PAX2, PAX8
13mesonephros developmentGO:000182310.6PAX2, PAX8
14metanephric distal convoluted tubule developmentGO:007222110.6PAX2, PAX8
15pronephros developmentGO:004879310.6PAX2, PAX8
16regulation of transcription from RNA polymerase II promoter in response to oxidative stressGO:004361910.6EPAS1, HIF1A
17negative regulation of intrinsic apoptotic signaling pathway in response to DNA damageGO:190223010.3CLU, CXCL12
18positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141910.3HIF1A, VEGFA
19surfactant homeostasisGO:004312910.3EPAS1, VEGFA
20positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.2HIF1A, VEGFA
21epithelial cell developmentGO:000206410.2CXCR4, TP63
22macrophage differentiationGO:003022510.2CDC42, VEGFA
23positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.1PAX2, PAX8, VEGFA
24secretionGO:004690310.1CA2, CA9
25induction of positive chemotaxisGO:005093010.0CXCL12, VEGFA
26telencephalon cell migrationGO:002202910.0CXCL12, CXCR4
27morphogenesis of an epitheliumGO:000200910.0CA2, CA9
28kidney developmentGO:00018229.9CA2, PAX8, VEGFA
29platelet degranulationGO:00025769.9CLU, SERPINA3, VEGFA
30positive regulation of endothelial cell proliferationGO:00019389.7CXCL12, HIF1A, VEGFA
31response to virusGO:00096159.7CLU, CXCL12, CXCR4
32positive regulation of axon extension involved in axon guidanceGO:00488429.5CXCL12, VEGFA
33cellular response to hypoxiaGO:00714569.5EPAS1, HIF1A, VEGFA
34positive regulation of transcription, DNA-templatedGO:00458939.4HIF1A, PAX2, PAX8, TP63, VHL
35transcription from RNA polymerase II promoterGO:00063669.4EPAS1, HIF1A, PAX2, PAX8, TP63
36regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614188.9CA9, EPAS1, HIF1A, VEGFA, VHL
37positive regulation of transcription from RNA polymerase II promoterGO:00459448.7EPAS1, HIF1A, PAX2, PAX8, TP63, VEGFA
38negative regulation of apoptotic processGO:00430668.6HIF1A, KRT18, PAX2, TP63, VEGFA, VHL
39response to hypoxiaGO:00016668.2CXCL12, 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:000098910.2HIF1A, TP63
2carbonate dehydratase activityGO:00040899.9CA2, CA9
3transcription factor bindingGO:00081349.4EPAS1, HIF1A, PAX2, VHL
4transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.3EPAS1, HIF1A, PAX8, TP63

Sources for Retinal Hemangioblastoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet