Tangier Disease [tangierská nemoc]

topical
3
Terms

analfalipoproteinemie
familiární analfalipoproteinemie
neuropatie při tangierské nemoci
tangierská choroba

 

A-alphalipoprotein Neuropathy
Alpha High Density Lipoprotein Deficiency Disease
Analphalipoproteinemia
Cholesterol Thesaurismosis
HDLDT1
High Density Lipoprotein Deficiency, Tangier Type
High Density Lipoprotein Deficiency, Type 1
High-Density Lipoprotein Deficiency, Tangier Type
High-Density Lipoprotein Deficiency, Type I
Neuropathy of Tangier Disease
Tangier Disease Neuropathy
Tangier Hereditary Neuropathy

Persistent link   https://www.medvik.cz/link/D013631
Definition

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.

DUI
D013631 MeSH Browser
CUI
M0021031
Previous indexing
Blood Protein Disorders (1966-1977); Lipid Metabolism, Inborn Errors (1966-1977); Lipoproteins (1966-1977); Lipoproteins, HDL (1972-1977)
History note
1991(1978)
Public note
1991; see HYPOLIPOPROTEINEMIA 1980-1990, see HYPOLIPOPROTEINEMIAS 1978-1979

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis 1
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics 2
HI
history
IM
immunology
ME
metabolism 1
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 884
C10.668 Neuromuscular Diseases 333
C10.668.829 Peripheral Nervous System Diseases 495
C10.668.829.800 Polyneuropathies 345
C10.668.829.800.050 Alcoholic Neuropathy 18
C10.668.829.800.175 Hereditary Sensory and Autonomic Neuropathies 26
C10.668.829.800.300 Hereditary Sensory and Motor Neuropathy 72
C10.668.829.800.662 Paraneoplastic Polyneuropathy 14
C10.668.829.800.700 POEMS Syndrome 35
C10.668.829.800.750 Polyradiculoneuropathy 68
C10.668.829.800.875 Tangier Disease 3
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
C16.320.565 Metabolism, Inborn Errors 714
C16.320.565.398 Lipid Metabolism, Inborn Errors 154
C16.320.565.398.500 Hypolipoproteinemias 35
C16.320.565.398.500.330 Hypoalphalipoproteinemias
C16.320.565.398.500.330.500 Lecithin Cholesterol Acyltransferase Deficiency 2
C16.320.565.398.500.330.750 Tangier Disease 3
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.584 Lipid Metabolism Disorders 99
C18.452.584.500 Dyslipidemias 1 652
C18.452.584.500.875 Hypolipoproteinemias 35
C18.452.584.500.875.330 Hypoalphalipoproteinemias
C18.452.584.500.875.330.500 Lecithin Cholesterol Acyltransferase Deficiency 2
C18.452.584.500.875.330.750 Tangier Disease 3
C18.452.584.563 Lipid Metabolism, Inborn Errors 154
C18.452.584.563.500 Hypolipoproteinemias 35
C18.452.584.563.500.330 Hypoalphalipoproteinemias
C18.452.584.563.500.330.500 Lecithin Cholesterol Acyltransferase Deficiency 2
C18.452.584.563.500.330.750 Tangier Disease 3
C18.452.648 Metabolism, Inborn Errors 714
C18.452.648.398 Lipid Metabolism, Inborn Errors 154
C18.452.648.398.500 Hypolipoproteinemias 35
C18.452.648.398.500.330 Hypoalphalipoproteinemias
C18.452.648.398.500.330.500 Lecithin Cholesterol Acyltransferase Deficiency 2
C18.452.648.398.500.330.750 Tangier Disease 3

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