Tangier Disease (TGD)

Alias:

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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

唐氏病，又称无α脂蛋白血症，与低α脂蛋白血症、原发性2型和低α脂蛋白血症、原发性1型有关，症状包括皮肤干燥。与唐氏病有关的重要基因是ABCA1（ATP结合盒家族A成员1），其相关通路/超级通路包括无机离子/酸/氨基酸/寡肽的代谢和运输。在该疾病的背景下，已提到的药物有腺苷和药物溶液。附属组织包括淋巴结和脾脏，相关表型为高甘油三酯血症和低胆固醇血症。

Related ID：

MALACARDS：TNG002

OMIM：205400

MESH：D013631