MCID: VNH004
MIFTS: 12

Von Hippel Anomaly malady

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Von Hippel Anomaly

Aliases & Descriptions for Von Hippel Anomaly:

Name: Von Hippel Anomaly 56

Characteristics:

Orphanet epidemiological data:

56
von hippel anomaly
Inheritance: Autosomal dominant;

Classifications:



External Ids:

Orphanet 56 ORPHA98941
ICD10 via Orphanet 34 Q13.4

Summaries for Von Hippel Anomaly

MalaCards based summary : Von Hippel Anomaly and has symptoms including glaucoma, retinal detachment and visual loss. The drugs Ranibizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye.

Related Diseases for Von Hippel Anomaly

Symptoms & Phenotypes for Von Hippel Anomaly

Human phenotypes related to Von Hippel Anomaly:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma 56 32 Occasional (29-5%) HP:0000501
2 retinal detachment 56 32 Frequent (79-30%) HP:0000541
3 visual loss 56 32 Occasional (29-5%) HP:0000572
4 nevus flammeus 56 32 Very frequent (99-80%) HP:0001052
5 abnormality of the retinal vasculature 56 32 Very frequent (99-80%) HP:0008046

Drugs & Therapeutics for Von Hippel Anomaly

Drugs for Von Hippel Anomaly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 1, Phase 2 347396-82-1 459903
2 Angiogenesis Inhibitors Phase 1, Phase 2
3 Angiogenesis Modulating Agents Phase 1, Phase 2
4 Adjuvants, Immunologic Phase 2
5 Freund's Adjuvant Phase 2
6 Vaccines Phase 2
7
Bevacizumab Approved, Investigational Phase 1 216974-75-3
8 Immunoglobulins Phase 1
9 Antibodies, Monoclonal Phase 1
10 Antibodies Phase 1
11 Mitogens
12 Endothelial Growth Factors

Interventional clinical trials:


id Name Status NCT ID Phase
1 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2
2 Vaccine Therapy With Tumor Specific Mutated VHL Peptides in Adult Cancer Patients With Renal Cell Carcinoma Terminated NCT00001703 Phase 2
3 Ranibizumab Injections to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome Completed NCT00089765 Phase 1
4 EYE001 to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome Completed NCT00056199 Phase 1
5 Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
6 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
7 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Enrolling by invitation NCT02207686

Search NIH Clinical Center for Von Hippel Anomaly

Genetic Tests for Von Hippel Anomaly

Anatomical Context for Von Hippel Anomaly

MalaCards organs/tissues related to Von Hippel Anomaly:

39
Eye

Publications for Von Hippel Anomaly

Variations for Von Hippel Anomaly

Expression for Von Hippel Anomaly

Search GEO for disease gene expression data for Von Hippel Anomaly.

Pathways for Von Hippel Anomaly

GO Terms for Von Hippel Anomaly

Sources for Von Hippel Anomaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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