Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Tangier disease

Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

Aortic valve stenosis

The presence of a stenosis (narrowing) of the aortic valve.

Total: 2

(per page)

PMID (PMCID)
28790243	FEMALE	Middle Aged
	[Valve Replacement for Severe Aortic Stenosis in a Patient with Tangier Disease].
	Tamura A, Yoshizaki T, Kusadokoro S. Kyobu Geka. 2017;70(9):762-764.
	We report a case of severe aortic valve stenosis in a patient with Tangier disease.
28790243	FEMALE	Middle Aged
	[Valve Replacement for Severe Aortic Stenosis in a Patient with Tangier Disease].
	Tamura A, Yoshizaki T, Kusadokoro S. Kyobu Geka. 2017;70(9):762-764.
	Several reports have been made on coronary artery revascularization in Tangier disease patients, but one on surgical treatment for aortic valve stenosis is extremely rare.