Von Hippel-Lindau Syndrome (VHLS)

Alias:
Von Hippel-Lindau Disease
Vhl
Von Hippel-Lindau Syndrome, Modifier of
Familial Cerebelloretinal Angiomatosis
Lindau Disease
Vhl Syndrome
Vhls
Cerebelloretinal Angiomatosis, Familial
Hippel Lindau Syndrome
Hippel-Lindau Disease
Angiomatosis Retinae
Vhl Disease
Vhld
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Von Hippel-Lindau Syndrome, also known as von hippel-lindau disease, is related to hemangioblastoma and pancreatic serous cystadenoma, and has symptoms including tinnitus and vertigo. An important gene associated with Von Hippel-Lindau Syndrome is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways are Signal Transduction and GDNF signaling. The drugs Somatostatin and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and pancreas, and related phenotypes are abnormality of the eye and hypertension
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
1-9/100000
58
604
450

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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