MCID: RTN013
MIFTS: 30

Retinal Hemangioblastoma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Retinal Hemangioblastoma

MalaCards integrated aliases for Retinal Hemangioblastoma:

Name: Retinal Hemangioblastoma 12 6 15 70

Classifications:



External Ids:

Disease Ontology 12 DOID:5240
NCIt 50 C39783
UMLS 70 C1514915

Summaries for Retinal Hemangioblastoma

MalaCards based summary : Retinal Hemangioblastoma is related to angiomatosis and hemangioblastoma. An important gene associated with Retinal Hemangioblastoma is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways are Innate Immune System and Cellular Senescence (REACTOME). Affiliated tissues include eye, retina and spinal cord.

Related Diseases for Retinal Hemangioblastoma

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 angiomatosis 30.2 VHL LOC107303340
2 hemangioblastoma 30.0 VHL VEGFA LOC107303340 HIF1A EPAS1
3 hypoxia 28.8 VHL VEGFA HIF1A EPAS1 CUL2
4 von hippel-lindau syndrome 28.8 VHL VEGFA TMEM127 LOC107303340 HIF1A ELOC
5 clear cell renal cell carcinoma 28.6 VHL VEGFA TMEM127 HIF1A EPAS1 ELOB
6 erythrocytosis, familial, 2 28.4 VHL LOC107303340 HIF1A EPAS1 ELOC ELOB
7 pheochromocytoma 28.0 VHL VEGFA TMEM127 LOC107303340 HIF1A EPAS1
8 sporadic pheochromocytoma/secreting paraganglioma 10.3 VHL EPAS1
9 endolymphatic sac tumor 10.3 VHL LOC107303340
10 congenital myasthenic syndrome with episodic apnea 10.3 VHL LOC107303340
11 erythrocytosis, familial, 4 10.2 VHL EPAS1
12 cerebellar angioblastoma 10.2 VHL LOC107303340
13 microcystic adenoma 10.2 VHL SERPINA3
14 chronic mountain sickness 10.1 VEGFA EPAS1
15 odontogenic myxoma 10.1 VEGFA SERPINA3
16 esophagus leiomyoma 10.1 VHL TMEM127 EPAS1
17 pheochromocytoma-paraganglioma 10.1 VHL TMEM127 LOC107303340
18 adamantinous craniopharyngioma 10.0 VEGFA SERPINA3
19 retinal detachment 10.0
20 retinoblastoma 10.0
21 retinal vascular disease 10.0
22 hereditary paraganglioma-pheochromocytoma syndromes 10.0 VHL TMEM127 LOC107303340
23 persistent generalized lymphadenopathy 10.0 TMEM127 SERPINA3 EPAS1
24 central nervous system vasculitis 10.0 VEGFA SERPINA3
25 endocrine organ benign neoplasm 10.0 VHL TMEM127 SERPINA3
26 papilledema 10.0 VEGFA SERPINA3
27 mixed phenotype acute leukemia 10.0 VHL LOC107303340
28 intestinal perforation 10.0 VEGFA SERPINA3
29 fumarate hydratase deficiency 10.0 VHL HIF1A
30 leiomyoma cutis 10.0 ELOC ELOB CUL2
31 dermis tumor 10.0 ELOC ELOB CUL2
32 familial renal papillary carcinoma 10.0 ELOC ELOB CUL2
33 trachoma 9.9 VEGFA SERPINA3
34 yemenite deaf-blind hypopigmentation syndrome 9.9
35 tumor predisposition syndrome 9.9
36 cutaneous telangiectasia and cancer syndrome, familial 9.9
37 adrenal gland pheochromocytoma 9.9
38 retinal microaneurysm 9.9
39 telangiectasis 9.9
40 macular retinal edema 9.9
41 bilateral retinoblastoma 9.9
42 inherited cancer-predisposing syndrome 9.9
43 soft tissue sarcoma 9.8 VEGFA HIF1A
44 cystadenoma 9.8 VHL SERPINA3 HIF1A
45 pulmonary artery disease 9.7 VEGFA SERPINA3
46 ischemic colitis 9.7 VEGFA HIF1A
47 acute mountain sickness 9.7 VHL VEGFA HIF1A
48 capillary hemangioma 9.7 VHL VEGFA HIF1A
49 hemangioma 9.7 VHL VEGFA HIF1A
50 intravascular papillary endothelial hyperplasia 9.7 VEGFA SERPINA3 HIF1A

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



Diseases related to Retinal Hemangioblastoma

Symptoms & Phenotypes for Retinal Hemangioblastoma

Drugs & Therapeutics for Retinal Hemangioblastoma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Retrospective Case Series of Trans-scleral Cryotherapy for Retinal Hemangioblastoma Active, not recruiting NCT04458935

Search NIH Clinical Center for Retinal Hemangioblastoma

Genetic Tests for Retinal Hemangioblastoma

Anatomical Context for Retinal Hemangioblastoma

MalaCards organs/tissues related to Retinal Hemangioblastoma:

40
Eye, Retina, Spinal Cord, Pancreas, Endothelial

Publications for Retinal Hemangioblastoma

Articles related to Retinal Hemangioblastoma:

(show top 50) (show all 75)
# Title Authors PMID Year
1
Retinal hemangioblastoma vascular detail elucidated on swept source optical coherence tomography angiography. 61
33385098 2021
2
Aggressive-fungating retinal hemangioblastoma. 61
33723171 2021
3
Photodynamic Therapy in Ocular Oncology. 61
33133446 2020
4
Von Hippel-Lindau Syndrome: Multi-Organ Involvement Highlighting Its Diverse Clinical Spectrum in Two Adult Cases. 61
32864232 2020
5
Familial Cavernous Hemangioma. 61
30893269 2020
6
Retinal Artery Macroaneurysm Associated With Retinal Hemangioblastoma. 61
32579695 2020
7
[Retinal laser treatment-avoiding mistakes]. 61
32002621 2020
8
Case report: a synonymous VHL mutation (c.414A > G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing. 61
32106822 2020
9
Von Hippel-Lindau Disease and the Eye. 61
32095212 2020
10
MANAGEMENT OF RETINAL HEMANGIOBLASTOMA IN VON HIPPEL-LINDAU DISEASE. 61
31259811 2019
11
VON HIPPEL-LINDAU DISEASE: Update on Pathogenesis and Systemic Aspects. 61
31095066 2019
12
Insights into retinal hemangioblastoma using ultra widefield imaging. 61
31755444 2019
13
Efficacy of Retinal Lesion Screening in Von Hippel-Lindau Patients With Widefield Color Fundus Imaging Versus Widefield FA. 61
31755976 2019
14
Classification and treatment follow-up of a juxtapapillary retinal hemangioblastoma with optical coherence tomography angiography. 61
31198883 2019
15
Evaluation of the safety and effectiveness of oral propranolol in patients with von Hippel-Lindau disease and retinal hemangioblastomas: phase III clinical trial. 61
31245608 2019
16
Hemangioblastoma Instead of Renal Cell Carcinoma Plays a Major Role in the Unfavorable Overall Survival of Von Hippel-Lindau Disease Patients. 61
31649892 2019
17
Comparing the Clinical Performance of the New 19-G ViziShot FLEX and 21- or 22-G ViziShot 2 Endobronchial Ultrasound-guided Transbronchial Needle Aspiration Needles. 61
30146572 2018
18
Effect of intravitreal dexamethasone on macular edema in von Hippel-Lindau disease assessed using swept-source optical coherence tomography: a case report. 61
30185211 2018
19
Von Hippel-Lindau with early onset of hemangioblastoma and multiple drop-metastases like spinal lesions: A case report. 61
30278534 2018
20
Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease. 61
28972023 2018
21
Solitary retinal hemangioblastoma findings in OCTA pre- and post-laser therapy. 61
29780915 2018
22
[Von Hippel-Lindau syndrome - a case report]. 61
29813043 2018
23
Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene. 61
29789510 2018
24
[Retinal hemangioblastoma: Treatment strategy and long-term follow-up in a retrospective cohort]. 61
29290462 2018
25
CLINICALLY INVISIBLE RETINAL HEMANGIOBLASTOMAS DETECTED BY SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY AND FLUORESCEIN ANGIOGRAPHY IN TWINS. 61
27533642 2018
26
Peripheral retinal nonperfusion using widefield imaging with von Hippel-Lindau disease. 61
30305932 2018
27
[Optical Coherence Tomography Angiography in Diagnosis and Post-Treatment Assessment of Hemangioblastomas in Hippel-Lindau Disease]. 61
28380651 2017
28
18F-FDG and 68Ga-DOTATATE PET/CT in von Hippel-Lindau Disease-Associated Retinal Hemangioblastoma. 61
28033220 2017
29
Retinal Hemangioblastoma and Syrinx in von Hippel-Lindau Disease. 61
28225727 2017
30
Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family. 61
27785399 2015
31
Ocular Metastatic Renal Carcinoma Presenting With Proptosis. 61
24828963 2015
32
Pathology characteristics of ocular von Hippel-Lindau disease with neovascularization of the iris and cornea: a case report. 61
25885645 2015
33
Review of spectral domain-enhanced depth imaging optical coherence tomography of tumors of the retina and retinal pigment epithelium in children and adults. 61
25827543 2015
34
Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease. 61
25078357 2014
35
Enhanced depth imaging optical coherence tomography of intraocular tumors: from placid to seasick to rock and rolling topography--the 2013 Francesco Orzalesi Lecture. 61
25014847 2014
36
Upregulation of hypoxia-inducible factors and autophagy in von Hippel-Lindau-associated retinal hemangioblastoma. 61
24859386 2014
37
Retinal hemangioblastoma regression after single session of photodynamic therapy. 61
24676097 2014
38
Retinal hemangioblastoma. 61
24626823 2014
39
Hemangioblastoma of the optic nerve producing bilateral optic tract edema in a patient with von Hippel-Lindau disease. 61
24778921 2014
40
[Endolymphatic sac tumor with von Hippel-Lindau disease: report of two cases with testing of von Hippel-Lindau gene]. 61
24444636 2013
41
Scleral penetration of an unusually aggressive case of a retinal hemangioblastoma. 61
23931485 2013
42
Clinical and mutation analysis of four Chinese families with von Hippel-Lindau disease. 61
23143947 2013
43
Transient increased exudation after photodynamic therapy of intraocular tumors. 61
23580859 2013
44
Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma. 61
22763871 2012
45
Clinically unsuspected retinal hemangioblastoma in a blind eye as the initial manifestation of von Hippel-Lindau disease. 61
22281434 2012
46
[Therapeutical course of retinal hemangioblastoma in von Hippel Lindau disease]. 61
21437841 2011
47
Temporary Exudative Retinal Detachment following Photodynamic Therapy in a Patient with Retinal Capillary Hemangioblastoma. 61
21887083 2011
48
Verteporfin photodynamic therapy for retinal hemangioblastoma associated with Von Hippel-Lindau disease in a 9-year-old child. 61
21040313 2011
49
Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient. 61
21528828 2011
50
Pars plana vitrectomy and endoresection of a retinal vasoproliferative tumor. 61
20837805 2010

Variations for Retinal Hemangioblastoma

ClinVar genetic disease variations for Retinal Hemangioblastoma:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VHL NM_000551.3(VHL):c.194C>T (p.Ser65Leu) SNV Pathogenic 182975 rs5030826 GRCh37: 3:10183725-10183725
GRCh38: 3:10142041-10142041

Expression for Retinal Hemangioblastoma

Search GEO for disease gene expression data for Retinal Hemangioblastoma.

Pathways for Retinal Hemangioblastoma

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

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 VHL VEGFA SERPINA3 HIF1A ELOC ELOB
2
Show member pathways
12.9 VHL VEGFA HIF1A EPAS1 ELOC ELOB
3 12.64 VHL VEGFA HIF1A EPAS1 ELOC ELOB
4
Show member pathways
12.42 VHL VEGFA HIF1A EPAS1 ELOC ELOB
5 11.92 VHL ELOC ELOB CUL2
6 11.77 VHL VEGFA HIF1A ELOC ELOB CUL2
7
Show member pathways
11.72 VHL VEGFA HIF1A EPAS1
8 11.17 VHL VEGFA HIF1A ELOC ELOB CUL2
9 11.14 VEGFA HIF1A
10
Show member pathways
11.12 HIF1A EPAS1
11 11.09 VHL VEGFA EPAS1 ELOC ELOB
12
Show member pathways
11.03 VEGFA HIF1A
13 10.92 VEGFA HIF1A
14 10.84 VHL VEGFA EPAS1
15 10.8 VEGFA SERPINA3
16 10.46 VEGFA HIF1A
17 10.45 ELOC ELOB
18 10.2 VHL HIF1A ELOC ELOB CUL2

GO Terms for Retinal Hemangioblastoma

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

# Name GO ID Score Top Affiliating Genes
1 elongin complex GO:0070449 9.16 ELOC ELOB
2 Cul2-RING ubiquitin ligase complex GO:0031462 9.13 ELOC ELOB CUL2
3 VCB complex GO:0030891 8.8 ELOC ELOB CUL2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.7 VEGFA HIF1A EPAS1
2 protein ubiquitination GO:0016567 9.63 VHL HIF1A EPAS1 ELOC ELOB CUL2
3 cellular response to hypoxia GO:0071456 9.61 VEGFA HIF1A EPAS1
4 cell maturation GO:0048469 9.56 VEGFA EPAS1
5 negative regulation of TOR signaling GO:0032007 9.55 TMEM127 HIF1A
6 translational elongation GO:0006414 9.54 ELOC ELOB
7 dopaminergic neuron differentiation GO:0071542 9.51 VEGFA HIF1A
8 positive regulation of neuroblast proliferation GO:0002052 9.49 VEGFA HIF1A
9 camera-type eye morphogenesis GO:0048593 9.48 VEGFA HIF1A
10 embryonic placenta development GO:0001892 9.46 HIF1A EPAS1
11 post-translational protein modification GO:0043687 9.43 VHL HIF1A EPAS1 ELOC ELOB CUL2
12 surfactant homeostasis GO:0043129 9.4 VEGFA EPAS1
13 regulation of protein neddylation GO:2000434 9.37 HIF1A EPAS1
14 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.32 VEGFA HIF1A
15 regulation of transcription from RNA polymerase II promoter in response to oxidative stress GO:0043619 9.26 HIF1A EPAS1
16 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.17 VHL VEGFA HIF1A EPAS1 ELOC ELOB

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

# Name GO ID Score Top Affiliating Genes
1 translation elongation factor activity GO:0003746 8.96 ELOC ELOB
2 histone acetyltransferase binding GO:0035035 8.62 HIF1A EPAS1

Sources for Retinal Hemangioblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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