Tangier Disease (TGD)

Tangier Disease(来自ICD-11)
别称:
Analphalipoproteinemia
High Density Lipoprotein Deficiency, Tangier Type
Atp-Binding Cassette Transporter A1 Deficiency
Familial High Density Lipoprotein Deficiency
Tangier Disease Neuropathy
Tgd
Familial High Density Lipoprotein Deficiency Disease
Alpha High Density Lipoprotein Deficiency Disease
Familial High-Density Lipoprotein Deficiency 1
Lipoprotein Deficiency Disease, Hdl, Familial
High Density Lipoprotein Deficiency, Type 1
Familial Alpha-Lipoprotein Deficiency
High Density Lipoprotein Deficiency 1
Hypoalphalipoproteinemia, Familial
Primary Hypoalphalipoproteinemia 1
Hdl Lipoprotein Deficiency Disease
Familial Hypoalphalipoproteinemia
a-Alphalipoprotein Neuropathy
Tangier Hereditary Neuropathy
Cholesterol Thesaurismosis
Tangier Disease, Variant
Familial Hdl Deficiency
Hdldt1
Hdld1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tangier Disease, also known as analphalipoproteinemia, is related to hypoalphalipoproteinemia, primary, 2 and hypoalphalipoproteinemia, primary, 1, and has symptoms including dry skin An important gene associated with Tangier Disease is ABCA1 (ATP Binding Cassette Subfamily A Member 1), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Adenosine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include lymph node and spleen, and related phenotypes are hypertriglyceridemia and hypocholesterolemia
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参考文献
MALACARDS
AR
Newborn
<1/1000000
42
387
59

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