MCID: RTN013
MIFTS: 37

Retinal Hemangioblastoma malady

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

Aliases & Classifications for Retinal Hemangioblastoma

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Aliases & Descriptions for Retinal Hemangioblastoma:

Name: Retinal Hemangioblastoma 11 13 68

Classifications:



External Ids:

Disease Ontology11 DOID:5240
NCIt45 C39783

Summaries for Retinal Hemangioblastoma

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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 are ID signaling pathway and Hypoxic and oxygen homeostasis regulation of HIF-1-alpha. Affiliated tissues include eye, endothelial and retina, 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 43)
idRelated DiseaseScoreTop Affiliating Genes
1kimura disease10.3PAX2, PAX8
2retinitis10.3
3hemangioblastoma10.3
4connective tissue disease10.3PAX2, PAX8
5ovarian primitive germ cell tumor10.2PAX2, PAX8
6superficial urinary bladder cancer10.2PAX2, PAX8, TP63
7gastrointestinal neuroendocrine tumor10.2PAX2, PAX8
8atrioventricular septal defect 210.2EPAS1, HIF1A, VHL
9autosomal dominant medullary cystic kidney disease without hyperuricemia10.1CA2, ENO2
10gtp cyclohydrolase 1-deficient dopa-responsive dystonia10.1HIF1A, VHL
11cranial nerve disease10.1ENO2, PAX2, PAX8
12appendicitis10.1ENO2, LYZ
13zollinger-ellison syndrome10.1ENO2, EPAS1, VHL
14malignant adult ependymoma10.1KRT18, LYZ, SERPINA3
15endobronchial lipoma10.1CA2, LYZ, VEGFA
16sacrococcygeal teratoma10.1CXCL12, HIF1A, VEGFA
17isolated anterior cervical hypertrichosis10.1HIF1A, SERPINA3, VEGFA
18oppositional defiant disorder10.1CXCL12, HIF1A, VEGFA
19intestinal impaction10.0EPAS1, HIF1A, VHL
20alternating exotropia10.0LYZ, PKDREJ, SERPINA3
21bulbar polio10.0LYZ, S100A9, SERPINA3
22neuromuscular disease10.0LYZ, S100A9, SERPINA3
23erythrocytosis, familial, 210.0HIF1A, VEGFA, VHL
24ulcerative proctitis10.0ENO2, LYZ, VEGFA
25gestational choriocarcinoma10.0ENO2, SERPINA3, VEGFA
26granular cell leiomyosarcoma10.0ENO2, PAX2, VEGFA, VHL
27lymphatic system disease9.9ENO2, VEGFA
28jewett-marshall bladder cancer9.9ENO2, LYZ, S100A9
29malignant giant cell tumor of the tendon sheath9.9S100A9, SERPINA3
30acute posterior multifocal placoid pigment epitheliopathy9.9ENO2, HIF1A, VEGFA, VHL
31thyroid carcinoma, papillary, with papillary renal neoplasia9.9CA2, CA9, PAX8
32nodular tenosynovitis9.9CA9, KRT18, PAX2, PAX8
33hole retinal cyst9.8CA9, ENO2, HIF1A
34sarcomatoid renal cell carcinoma9.8CA9, HIF1A, VEGFA, VHL
35hypogonadotropic hypogonadism 20 with or without anosmia9.7CA9, HIF1A, TP63, VEGFA
36cleft palate cardiac defect ectrodactyly9.7CA9, EPAS1, HIF1A, VEGFA, VHL
37ovarian brenner tumor9.7CA9, EPAS1, HIF1A, VEGFA, VHL
38mini stroke9.7CA9, EPAS1, HIF1A, VEGFA, VHL
39angiomatosis9.7
40hypoxia9.7
41endotheliitis9.7
42bernard-soulier syndrome, type c9.4CA9, CLU, EPAS1, HIF1A, PAX2, PAX8
43central nervous system leiomyosarcoma7.9CA2, 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

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MGI Mouse Phenotypes related to Retinal Hemangioblastoma according to GeneCards Suite gene sharing:

41 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.3CXCR4, HIF1A, LYZ, TP63, VEGFA, VHL
2MP:00053709.1CXCL12, EPAS1, HIF1A, KRT18, LYZ, VEGFA
3MP:00053828.9CXCR4, ENO2, HIF1A, PAX8, TP63, VEGFA
4MP:00053698.9CLU, CXCL12, CXCR4, EPAS1, HIF1A, TP63
5MP:00053808.7CXCR4, EPAS1, HIF1A, KRT18, PAX2, PAX8
6MP:00053888.7CXCR4, ENO2, EPAS1, HIF1A, LYZ, TP63
7MP:00053818.6CA2, CA9, CXCR4, HIF1A, LYZ, TP63
8MP:00053898.4CA2, CXCL12, CXCR4, PAX2, PAX8, PKDREJ
9MP:00053678.3CA2, CLU, CXCR4, HIF1A, LYZ, PAX2
10MP:00053798.1CA2, CA9, CXCR4, HIF1A, LYZ, PAX2
11MP:00053858.1CLU, CXCL12, CXCR4, EPAS1, HIF1A, LYZ
12MP:00053787.8CA2, CXCR4, ENO2, EPAS1, HIF1A, KRT18
13MP:00053907.8CA2, CXCR4, EPAS1, HIF1A, LYZ, PAX8
14MP:00036317.7CA2, CLU, CXCL12, CXCR4, ENO2, EPAS1
15MP:00053847.2CXCL12, CXCR4, ENO2, HIF1A, LYZ, PAX2
16MP:00053877.0CA2, CA9, CLU, CXCL12, CXCR4, EPAS1
17MP:00107686.5CA2, CA9, CXCL12, CXCR4, EPAS1, HIF1A

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 297053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
2
Sunitinibapproved, investigationalPhase 2510341031-54-7, 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 23689
5Angiogenesis Modulating AgentsPhase 24185
6Angiogenesis InhibitorsPhase 24257
7pancreatinPhase 2970

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:

36
Eye, Endothelial, Retina

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
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

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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
110.0PAX2, PAX8
29.9HIF1A, VHL
39.6EPAS1, VEGFA, VHL
49.6HIF1A, VEGFA
59.5CDC42, CXCL12, CXCR4
69.5CXCR4, PAX2, VEGFA
79.4HIF1A, VEGFA, VHL
89.3CXCR4, EPAS1, VEGFA, VHL
99.2CXCR4, PAX2, TP63, VEGFA
10
Show member pathways
8.9CDC42, EPAS1, HIF1A, VEGFA, VHL
11
Show member pathways
8.9CDC42, EPAS1, HIF1A, VEGFA, VHL
128.9ENO2, HIF1A, VEGFA, VHL
138.4CA9, CXCL12, CXCR4, HIF1A, VEGFA
148.0CDC42, 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
1cell peripheryGO:007194410.4CDC42, CLU, KRT18
2platelet alpha granule lumenGO:003109310.1CLU, SERPINA3, VEGFA
3protein complexGO:00432349.0CLU, CXCR4, HIF1A, PAX2, TP63
4extracellular spaceGO:00056157.9CA2, CLU, CXCL12, ENO2, LYZ, S100A9
5extracellular exosomeGO:00700627.5CA2, CDC42, CLU, CXCL12, CXCR4, ENO2

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

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1mesenchymal to epithelial transition involved in metanephros morphogenesisGO:000333710.8PAX2, PAX8
2mesonephros developmentGO:000182310.8PAX2, PAX8
3metanephric distal convoluted tubule developmentGO:007222110.8PAX2, PAX8
4metanephric epithelium developmentGO:007220710.8PAX2, PAX8
5metanephric nephron tubule formationGO:007228910.8PAX2, PAX8
6negative regulation of apoptotic process involved in metanephric collecting duct developmentGO:190021510.7PAX2, PAX8
7negative regulation of apoptotic process involved in metanephric nephron tubule developmentGO:190021810.7PAX2, PAX8
8negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesisGO:007230510.7PAX2, PAX8
9negative regulation of mesenchymal cell apoptotic process involved in metanephros developmentGO:190021210.7PAX2, PAX8
10positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesisGO:007210810.7PAX2, PAX8
11positive regulation of metanephric DCT cell differentiationGO:200059410.7PAX2, PAX8
12pronephric field specificationGO:003900310.7PAX2, PAX8
13pronephros developmentGO:004879310.7PAX2, PAX8
14regulation of metanephric nephron tubule epithelial cell differentiationGO:007230710.7PAX2, PAX8
15negative regulation of intrinsic apoptotic signaling pathway in response to DNA damageGO:190223010.6CLU, CXCL12
16regulation of transcription from RNA polymerase II promoter in response to oxidative stressGO:004361910.6EPAS1, HIF1A
17macrophage differentiationGO:003022510.5CDC42, VEGFA
18morphogenesis of an epitheliumGO:000200910.5CA2, CA9
19surfactant homeostasisGO:004312910.5EPAS1, VEGFA
20induction of positive chemotaxisGO:005093010.5CXCL12, VEGFA
21positive regulation of axon extension involved in axon guidanceGO:004884210.4CXCL12, VEGFA
22secretionGO:004690310.4CA2, CA9
23positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:006141910.3HIF1A, VEGFA
24kidney developmentGO:000182210.3CA2, PAX8, VEGFA
25positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.3HIF1A, VEGFA
26positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.3PAX2, PAX8, VEGFA
27response to virusGO:000961510.2CLU, CXCL12, CXCR4
28cellular response to hypoxiaGO:007145610.2EPAS1, HIF1A, VEGFA
29positive regulation of endothelial cell proliferationGO:000193810.0CXCL12, HIF1A, VEGFA
30urogenital system developmentGO:000165510.0PAX2, PAX8
31positive regulation of transcription, DNA-templatedGO:00458939.9HIF1A, PAX2, PAX8, TP63, VHL
32antimicrobial humoral responseGO:00197309.8CLU, LYZ, S100A9
33transcription from RNA polymerase II promoterGO:00063669.5EPAS1, HIF1A, PAX2, PAX8, TP63
34response to hypoxiaGO:00016669.4CXCL12, CXCR4, EPAS1, HIF1A, VEGFA
35negative regulation of apoptotic processGO:00430669.4HIF1A, KRT18, PAX2, TP63, VEGFA, VHL
36regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614189.4CA9, EPAS1, HIF1A, VEGFA, VHL
37cell differentiationGO:00301549.2CDC42, EPAS1, HIF1A, PAX2, PAX8, TP63

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, transcription factor bindingGO:000098910.5HIF1A, TP63
2carbonate dehydratase activityGO:000408910.4CA2, CA9
3transcription factor bindingGO:000813410.0EPAS1, HIF1A, PAX2, VHL
4transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.4EPAS1, HIF1A, PAX8, TP63

Sources for Retinal Hemangioblastoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet