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Diseases » Tangier disease » Summary
 

What is Tangier disease?

What is Tangier disease?

  • Tangier disease: A rare disorder characterized by a very low level of HDL (high-density lipoprotein or "good cholesterol") in the blood. The condition occurs because the body lacks the gene to make a certain protein (Apolipoprotein A1) which normally transports fats from tissues to where it is needed.
  • Tangier disease: A rare autosomal recessive familial disorder of cholesterol metabolism, characterized by extremely low HDL-cholesterol, reduced total cholesterol, and increased triglyceride levels in serum. Clinical features include the onset before age 20 years of HEPATOMEGALY; SPLENOMEGALY; the deposition of cholesterol in each TONSIL (creating a yellow-orange appearance); and RETINITIS PIGMENTOSA. A sensorimotor or distal sensory POLYNEUROPATHY occurs in approximately 50% of affected individuals. The condition is associated with decreased synthesis and increased catabolism of APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II, and a defect in cellular signaling and mobilization of lipids. (From Nat Genet 1998 Sep;20(1):96-8; Adams et al., Principles of Neurology, 6th ed, pp1347-8; Menkes, Textbook of Child Neurology, 5th ed, p118)
    Source - Diseases Database

Tangier disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Tangier disease, or a subtype of Tangier disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Tangier disease as a "rare disease".
Source - Orphanet

Tangier disease: Introduction

Types of Tangier disease:

Broader types of Tangier disease:

How many people get Tangier disease?

Prevalance of Tangier disease: about 50 cases of Tangier disease have been diagnosed worldwide, Genetics Home Reference website
Prevalance Rate of Tangier disease: approx 1 in 120,000,000 or 0.00% or 2 people in USA [about data]

How serious is Tangier disease?

Complications of Tangier disease: see complications of Tangier disease

What causes Tangier disease?

Causes of Tangier disease: see causes of Tangier disease

What are the symptoms of Tangier disease?

Symptoms of Tangier disease: see symptoms of Tangier disease

Complications of Tangier disease: see complications of Tangier disease

Can anyone else get Tangier disease?

More information: see contagiousness of Tangier disease
Inheritance: see inheritance of Tangier disease

How is it treated?

Doctors and Medical Specialists for Tangier disease: Medical Geneticist ; see also doctors and medical specialists for Tangier disease.
Treatments for Tangier disease: see treatments for Tangier disease
Research for Tangier disease: see research for Tangier disease

Name and Aliases of Tangier disease

Main name of condition: Tangier disease

Other names or spellings for Tangier disease:

High density lipoprotein deficiency, type 1, HDLDT1, High density lipoprotein deficiency, Tangier type, Analphalipoproteinemia, Alpha High Density Lipoprotein deficiency disease, A-alphalipoprotein Neuropathy, Cholesterol thesaurismosis, Familial High Density Lipoprotein Deficiency Disease, Familial Hypoalphalipoproteinemia, HDL Lipoprotein Deficiency Disease

Familial alphalipoprotein deficiency, Analphalipoproteinaemia, Hdl deficiency, familial, High density lipoprotein deficiency Source - Diseases Database

Analphalipoproteinemia, HDLDT1, High density lipoprotein deficiency, Tangier type, High density lipoprotein deficiency, type 1
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Tangier disease: Related Conditions

Research the causes of these diseases that are similar to, or related to, Tangier disease:

 

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