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Descriptor English: Tangier Disease
Descriptor Spanish: Enfermedad de Tangier
Descriptor enfermedad de Tangier
Entry term(s) analfalipoproteinemia
neuropatía de la enfermedad de Tangier
neuropatía por A-alfalipoproteína
Scope note: Infrecuente trastorno familiar autosómico recesivo del metabolismo del colesterol, caracterizado por niveles extremadamente bajos de HDL-colesterol, colesterol total reducido y aumento de los niveles séricos de triglicéridos. Las características clínicas incluyen un comienzo antes de los 20 años de edad de HEPATOMEGALIA, ESPLENOMEGALIA, depósitos de colesterol en cada AMÍGDALA (lo que les da un aspecto de color amarillo-naranja) y RETINITIS PIGMENTOSA. Una POLINEUROPATÍA sensitivomotora o distal se da en aproximadamente el 50 por ciento de los individuos afectados. La afección se asocia con disminución de la síntesis y aumento del catabolismo de la APOLIPOPROTEÍNA A-I y de la APOLIPOPROTEÍNA A-II, y de un defecto en la señal celular y en la movilización de lípidos. (Nat Genet 1998 Sep;20(1):96-8; Adams et al., Principles of Neurology, 6th ed, pp1347-8; Menkes, Textbook of Child Neurology, 5th ed, p118)
Descriptor Portuguese: Doença de Tangier
Descriptor French: Maladie de Tangier
Entry term(s): A-alphalipoprotein Neuropathies
A-alphalipoprotein Neuropathy
Alpha High Density Lipoprotein Deficiency Disease
Analphalipoproteinemia
Analphalipoproteinemias
Cholesterol Thesaurismoses
Cholesterol Thesaurismosis
HDLDT1
High Density Lipoprotein Deficiency, Tangier Type
High Density Lipoprotein Deficiency, Type 1
High Density Lipoprotein Deficiency, Type I
High-Density Lipoprotein Deficiency, Tangier Type
High-Density Lipoprotein Deficiency, Type I
Neuropathies, A-alphalipoprotein
Neuropathy of Tangier Disease
Neuropathy, A-alphalipoprotein
Tangier Disease Neuropathy
Tangier Hereditary Neuropathy
Thesaurismoses, Cholesterol
Thesaurismosis, Cholesterol
Tree number(s): C10.668.829.800.875
C16.320.565.398.500.330.750
C18.452.584.500.875.330.750
C18.452.584.563.500.330.750
C18.452.648.398.500.330.750
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D013631
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Blood Protein Disorders (1966-1977)
Lipid Metabolism, Inborn Errors (1966-1977)
Lipoproteins (1966-1977)
Lipoproteins, HDL (1972-1977)
Public MeSH Note: 1991; see HYPOLIPOPROTEINEMIA 1980-1990, see HYPOLIPOPROTEINEMIAS 1978-1979
History Note: 1991(1978)
Entry Version: TANGIER DIS
Related: Lipoproteins, HDL MeSH
Retinitis Pigmentosa MeSH
DeCS ID: 14012
Unique ID: D013631
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1991/01/01
Date of Entry: 1977/04/29
Revision Date: 2013/07/08
Tangier Disease - Preferred
Concept UI M0021031
Scope note 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.
Preferred term Tangier Disease
Entry term(s) Alpha High Density Lipoprotein Deficiency Disease
Analphalipoproteinemia
Analphalipoproteinemias
Cholesterol Thesaurismoses
Cholesterol Thesaurismosis
HDLDT1
High Density Lipoprotein Deficiency, Tangier Type
High Density Lipoprotein Deficiency, Type 1
High Density Lipoprotein Deficiency, Type I
High-Density Lipoprotein Deficiency, Tangier Type
High-Density Lipoprotein Deficiency, Type I
Thesaurismoses, Cholesterol
Thesaurismosis, Cholesterol
Tangier Disease Neuropathy - Narrower
Concept UI M0336851
Preferred term Tangier Disease Neuropathy
Entry term(s) A-alphalipoprotein Neuropathies
A-alphalipoprotein Neuropathy
Neuropathies, A-alphalipoprotein
Neuropathy of Tangier Disease
Neuropathy, A-alphalipoprotein
Tangier Hereditary Neuropathy



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