Search on:
TANGIER DISEASE NEUROPATHY
Descriptors Found:
1
Displaying:
1 .. 1
1 / 1
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
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
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:
14012
Unique Identifier:
D013631
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS