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Tangier Disease
Summary
Description:
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.
Also Known As:
HDLDT1; High Density Lipoprotein Deficiency, Type 1; High-Density Lipoprotein Deficiency, Tangier Type; High-Density Lipoprotein Deficiency, Type I; Neuropathy of Tangier Disease Show All >>
Networked: 362
relevant articles (10 outcomes,
23 trials/studies)
for this Disease
Key Drugs and Agents for Tangier Disease
Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
-
Apolipoprotein A-I (Apolipoprotein A1)
:
3 outcomes 5 studies in 88 results
: IBA
-
Cholesterol
:
2 outcomes 7 studies in 124 results
: IBA
-
Apolipoproteins
:
2 outcomes 2 studies in 41 results
: IBA
-
Lipoproteins (Lipoprotein)
:
1 outcome 6 studies in 86 results
: IBA
-
Adenosine Triphosphate (ATP)
:
1 outcome 3 studies in 71 results
: IBA
-
Apoproteins
:
1 outcome 2 studies in 6 results
: IBA
-
Phosphatidylcholines (Phosphatidylcholine)
:
1 outcome in 3 results
: IBA
-
Telomerase (Telomerase Reverse Transcriptase)
:
1 outcome in 2 results
: IBA
-
Ca(2+) Mg(2+)-ATPase
:
1 outcome in 1 result
: IBA
-
Retinaldehyde (Retinal)
:
1 outcome in 1 result
: IBA
Show All >>
Diseases Related to Tangier Disease
-
Lecithin Acyltransferase Deficiency (Lecithin:Cholesterol Acyltransferase Deficiency)
-
Atherosclerosis
-
Macular Degeneration (Age-Related Maculopathy)
-
Mononeuropathies (Mononeuritis Multiplex)
-
Lamellar Ichthyosis (Harlequin Ichthyosis)
Show All >>
Key Therapies for Tangier Disease
Efficacy Chart >>
-
Ligation
:
1 study in 1 result
-
Plasma Exchange
:
2 results
-
Coronary Artery Bypass (Coronary Artery Bypass Surgery)
:
2 results
-
Splenectomy
:
1 result
-
Anesthesia
:
1 result
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