Search on: VON HIPPEL-LINDAU DISEASE 
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Descriptor English:   von Hippel-Lindau Disease 
Descriptor Spanish:   Enfermedad de von Hippel-Lindau 
Descriptor Portuguese:   Doença de von Hippel-Lindau 
Synonyms English:   Cerebelloretinal Angiomatosis, Familial
Lindau Disease  
Tree Number:   C10.562.925
C14.907.077.925
Definition English:   An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions. 
History Note English:   2008 (1975) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications CN congenital
DI diagnosis DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RA radiography
RI radionuclide imaging RT radiotherapy
RH rehabilitation SU surgery
TH therapy US ultrasonography
UR urine VE veterinary
VI virology  
Record Number:   6781 
Unique Identifier:   D006623 

Occurrence in VHL: 		 

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