Tangier disease

These combined factors lead to the signs and symptoms of Tangier disease.

Tangier disease is a rare disorder with approximately 50 cases identified worldwide.

Studies show that there are three to fivefold increase of CL level in Tangier disease.

He participated in the genetic elucidation of Tangier disease, which he had himself described in the 1960s.

"Surely you're not suggesting Tangier disease?"

Tangier disease is also linked to CL abnormalities.

Mutations in this gene have been associated with Tangier disease and familial high-density lipoprotein deficiency.

"Tangier disease.

Tangier disease (ABCA1 deficiency) may also cause lymphadenopathy.

The isolation also contributes to the prevalence of Tangier disease, a recessive genetic disorder which causes high blood cholesterol that is named after the island's residents.

Unlike Barth syndrome, Tangier disease is mainly caused by abnormal enhanced production of CL.

ABCA1 has been shown to be reduced in Tangier disease which features physiological deficiencies of HDL.

These features lead FOSMN syndrome to be classed as one of the 'syringomyelia-like' syndromes, a group which also includes Tangier disease.

Defects in the gene encoding it are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis.

His group identified Tangier disease (HDL deficiency) and cholesteryl ester storage disease, two inborn errors of cholesterol metabolism.

J, Hayden MR. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

Tangier disease is characterized by very low blood plasma levels of high-density lipoprotein cholesterol, accumulation of cholesteryl esters in tissues and an increased risk for developing cardiovascular disease.

Interestingly, glucose induces expression of LXR target genes involved in cholesterol homeostasis like ABCA1 which is defective in Tangier disease.

People with Tangier disease have defective ABCA1 transporters resulting in a greatly reduced ability to transport cholesterol out of their cells, which leads to an accumulation of cholesterol in many body tissues.

The genetic disorders that Dr. Fredrickson found were Tangier disease, which results from the absence of a type of lipoprotein, high density, and cholesterol ester storage disease, which results from a deficiency of a lysosomal enzyme.