MCID: RTN013
MIFTS: 37

Retinal Hemangioblastoma malady

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

Aliases & Classifications for Retinal Hemangioblastoma

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Aliases & Descriptions for Retinal Hemangioblastoma:

Name: Retinal Hemangioblastoma 11 13 67

Classifications:



External Ids:

Disease Ontology11 DOID:5240
NCIt44 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 eye, endothelial and retina, and related mouse phenotypes are vision/eye and neoplasm.

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 47)
idRelated DiseaseScoreTop Affiliating Genes
1pediatric ovarian dysgerminoma10.6PAX2, PAX8
2biliary tract neoplasm10.6PAX2, PAX8
3testicular yolk sac tumor10.6PAX2, PAX8
4gars-associated axonal neuropathy10.4HIF1A, VHL
5ovarian stromal hyperthecosis10.4PAX2, PAX8, TP63
6mucinoses10.4CLU, SERPINA3
7central nervous system vasculitis10.4PAX2, PAX8, VHL
8erythrocytosis, familial, 210.4EPAS1, HIF1A, VHL
9hyperpituitarism10.3LYZ, SERPINA3
10retinitis10.3
11hemangioblastoma10.3
12nonossifying fibromyxoid tumor10.3ENO2, LYZ
13pancreatic serous cystic neoplasm10.2VEGFA, VHL
14malignant adenofibroma10.2LYZ, SERPINA3
15retroperitoneal germ cell neoplasm10.2KRT18, LYZ, SERPINA3
16synovitis10.2S100A9, SERPINA3
17ischemic optic neuropathy10.2CXCL12, CXCR4
18adenosquamous bile duct carcinoma10.2CLU, LYZ
19disease_ontology10.1CXCL12, CXCR4
20endobronchial lipoma10.1CA2, LYZ, VEGFA
21luteoma10.1LYZ, S100A9
22whim syndrome10.1CXCL12, CXCR4
23cervical keratinizing squamous cell carcinoma10.1ENO2, VEGFA
24iridogoniodysgenesis and skeletal anomalies10.1HIF1A, SERPINA3, VEGFA
25global developmental delay-lung cysts-overgrowth-wilms tumor syndrome10.0CA9, VHL
26von hippel-lindau syndrome10.0HIF1A, VEGFA, VHL
27heart aneurysm10.0LYZ, S100A9, SERPINA3
28pericoronitis9.9LYZ, SERPINA3
29renal cell carcinoma, papillary9.9CA2, CA9, PAX8
30placental choriocarcinoma9.9ENO2, SERPINA3, VEGFA
31richter's syndrome9.9ENO2, PAX8, VEGFA
32kidney cortex necrosis9.9ENO2, LYZ
33t-cell lymphoma 1a9.8ENO2, LYZ, VEGFA
34hematopoietic stem cell transplantation9.8ENO2, HIF1A, VEGFA
35angiomatosis9.7
36hypoxia9.7
37endotheliitis9.7
38mucinous adenofibroma9.7CA9, KRT18, PAX2, PAX8
39acute myeloblastic leukemia without maturation9.7ENO2, HIF1A, VEGFA, VHL
40eccrine adenocarcinoma9.5CA9, VEGFA
41renal tubular transport disease9.4CA9, HIF1A, VEGFA, VHL
42cystadenoma9.2CA9, EPAS1, HIF1A, VEGFA, VHL
43intracranial cysts9.2CA9, EPAS1, HIF1A, VEGFA, VHL
44villous adenoma9.2CA9, CXCR4, HIF1A, VEGFA
45verloove vanhorick brubakk syndrome9.0CA9, EPAS1, HIF1A, PAX2, VEGFA, VHL
46renal cell carcinoma8.6CA9, CLU, EPAS1, HIF1A, PAX2, PAX8
47hilar cholangiocellular carcinoma5.4CA2, 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):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PancrelipaseapprovedPhase 293553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
2
Sunitinibapproved, investigationalPhase 2500341031-54-7, 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
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 23612
5Angiogenesis Modulating AgentsPhase 24072
6Angiogenesis InhibitorsPhase 24143
7pancreatinPhase 2935

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:

35
Eye, Endothelial, Retina

Animal Models for Retinal Hemangioblastoma or affiliated genes

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MGI Mouse Phenotypes related to Retinal Hemangioblastoma:

40 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.7EPAS1, HIF1A, PAX2, PAX8, TP63, VEGFA
2MP:00020068.7CXCR4, HIF1A, LYZ, TP63, VEGFA, VHL
3MP:00053708.4CXCL12, EPAS1, HIF1A, KRT18, LYZ, VEGFA
4MP:00053898.3CA2, CXCL12, CXCR4, PAX2, PAX8, TP63
5MP:00053888.2CXCR4, ENO2, EPAS1, HIF1A, LYZ, TP63
6MP:00053698.1CLU, CXCL12, CXCR4, EPAS1, HIF1A, TP63
7MP:00053828.1CXCR4, ENO2, HIF1A, PAX8, TP63, VEGFA
8MP:00053808.1CXCR4, EPAS1, HIF1A, KRT18, PAX2, PAX8
9MP:00053908.0CA2, CXCR4, EPAS1, HIF1A, LYZ, PAX8
10MP:00053677.3CA2, CLU, CXCR4, HIF1A, LYZ, PAX2
11MP:00053797.2CA2, CA9, CXCR4, HIF1A, LYZ, PAX2
12MP:00053817.0CA2, CA9, CXCR4, HIF1A, LYZ, TP63
13MP:00053786.9CA2, CXCR4, ENO2, EPAS1, HIF1A, KRT18
14MP:00053856.8CLU, CXCL12, CXCR4, EPAS1, HIF1A, LYZ
15MP:00053876.8CA2, CLU, CXCL12, CXCR4, EPAS1, HIF1A
16MP:00053766.7CA2, CLU, CXCR4, EPAS1, HIF1A, LYZ
17MP:00036316.7CA2, CLU, CXCL12, CXCR4, ENO2, EPAS1
18MP:00053846.6CXCL12, CXCR4, ENO2, HIF1A, LYZ, PAX2
19MP:00107685.4CA2, CA9, CXCL12, CXCR4, EPAS1, HIF1A

Publications for Retinal Hemangioblastoma

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Articles related to Retinal Hemangioblastoma:

(show all 15)
idTitleAuthorsYear
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
Clinically unsuspected retinal hemangioblastoma in a blind eye as the initial manifestation of von Hippel-Lindau disease. (22281434)
2012
7
Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma. (22763871)
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

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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 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
147.9CA9, 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
1platelet alpha granule lumenGO:003109310.0CLU, SERPINA3, VEGFA
2extracellular spaceGO:00056157.3CA2, 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
10regulation of metanephric nephron tubule epithelial cell differentiationGO:007230710.7PAX2, PAX8
11metanephric epithelium developmentGO:007220710.7PAX2, 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
15regulation of transcription from RNA polymerase II promoter in response to oxidative stressGO:004361910.6EPAS1, HIF1A
16pronephros developmentGO:004879310.6PAX2, PAX8
17epithelial cell developmentGO:000206410.4CXCR4, TP63
18negative regulation of intrinsic apoptotic signaling pathway in response to DNA damageGO:190223010.3CLU, CXCL12
19positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141910.2HIF1A, VEGFA
20positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.2HIF1A, VEGFA
21surfactant homeostasisGO:004312910.2EPAS1, VEGFA
22macrophage differentiationGO:003022510.2CDC42, VEGFA
23positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.1PAX2, PAX8, VEGFA
24telencephalon cell migrationGO:002202910.1CXCL12, CXCR4
25secretionGO:004690310.1CA2, CA9
26positive regulation of axon extension involved in axon guidanceGO:004884210.0CXCL12, VEGFA
27induction of positive chemotaxisGO:005093010.0CXCL12, VEGFA
28morphogenesis of an epitheliumGO:000200910.0CA2, CA9
29kidney developmentGO:000182210.0CA2, PAX8, VEGFA
30platelet degranulationGO:00025769.9CLU, SERPINA3, VEGFA
31response to virusGO:00096159.7CLU, CXCL12, CXCR4
32positive regulation of endothelial cell proliferationGO:00019389.7CXCL12, HIF1A, VEGFA
33cellular response to hypoxiaGO:00714569.5EPAS1, HIF1A, VEGFA
34transcription from RNA polymerase II promoterGO:00063669.5EPAS1, HIF1A, PAX2, PAX8, TP63
35positive regulation of transcription, DNA-templatedGO:00458939.4HIF1A, PAX2, PAX8, TP63, VHL
36regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614188.9CA9, EPAS1, HIF1A, VEGFA, VHL
37negative regulation of apoptotic processGO:00430668.7HIF1A, KRT18, PAX2, TP63, VEGFA, VHL
38positive regulation of transcription from RNA polymerase II promoterGO:00459448.7EPAS1, HIF1A, PAX2, PAX8, TP63, VEGFA
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet