Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0262471 (ENT)
 5,307 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The report deals with the first three cases of Tangier disease (Hypo-alpha-Lipoproteinaemia) observed in Germany. This rare metabolic disorder is distinguished by a diminution of HDL-Lipoproteins in serum and a lipid storage in histiocytes. The prominent symptom is the orange yellow discolouration of hyperplastic tonsills and adenoids; further symptoms of the disease generally are various, the development is little typical. The morphological substrat of the deranged fat metabolism is cholesteryl ester storage in the reticuloendothelial system, smooth muscle cells, pericytes and Schwann cells of peripheral nerves. M. Tangier can be differentiated from other lysosomal defects by ultrastructural and chemical parameters, it seems to have a autosomal recessive inheritance. It is the ENT-specialist, who can establish an early diagnosis of this disease, provided he is aware of its clinical features.
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PMID:[Clinical and morphological findings in Tangier disease (hypo-alpha-lipoporteinaemia) and its ENT-significance (author's transl)]. 20 Dec 34