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VON HIPPEL-LINDAU DISEASE
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DeCS
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
; CEREBELLA; 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
:
blood
cerebrospinal fluid
chemically induced
classification
congenital
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
urine
ultrasonography
veterinary
virology
Record Number:
6781
Unique Identifier:
D006623
Occurrence in VHL
:
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