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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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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
42
388
59

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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