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:   A-alphalipoprotein Neuropathies
A-alphalipoprotein Neuropathy
Alpha High Density Lipoprotein Deficiency Disease
Cholesterol Thesaurismoses
Cholesterol Thesaurismosis
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:   C10.668.829.800.875
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
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   14012 
Unique Identifier:   D013631 

Occurrence in VHL: