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TANGIER DISEASE NEUROPATHY
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DeCS
Descriptor
English
:
Tangier Disease
Descriptor
Spanish
:
Enfermedad de Tangier
Descriptor
Portuguese
:
Doença de Tangier
Synonyms
English
:
Analphalipoproteinemia
A-alphalipoprotein Neuropathy
Tangier Disease Neuropathy
Tree Number:
C10.668.829.800.875
C16.320.565.398.500.330.750
C18.452.584.500.875.330.750
C18.452.648.398.500.330.750
Definition
English
:
An autosomal recessively inherited disorder caused by
mutation
of
ATP-BINDING CASSETTE TRANSPORTERS
involved in cellular
cholesterol
removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in
blood
. The massive tissue deposition of
cholesterol esters
results in
HEPATOMEGALY
;
SPLENOMEGALY
;
RETINITIS PIGMENTOSA
; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.
See Related
English
:
Lipoproteins, HDL
Retinitis Pigmentosa
History Note
English
:
1991(1978)
Allowable Qualifiers
English
:
blood
cerebrospinal fluid
chemically induced
classification
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:
14012
Unique Identifier:
D013631
Occurrence in VHL
:
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