Von Hippel-Lindau Syndrome (VHLS)

Von Hippel-Lindau Syndrome(来自ICD-11)
别称:
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
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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
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参考文献
MALACARDS
AD
Child
1-9/100000
58
605
450

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