Tangier disease(redirected from MIM 205400)
a familial disease characterized by a deficiency of high-density lipoproteins in the blood serum, with storage of cholesterol esters in the tonsils and other tissues.
High-density lipoprotein deficiency; an inheritable disorder of lipid metabolism characterized by almost complete absence from plasma of high-density lipoproteins and by storage of cholesterol esters in foam cells, tonsillar enlargement, an orange or yellow-gray color of the pharyngeal and rectal mucosa, hepatosplenomegaly, lymph node enlargement, corneal opacity, and peripheral neuropathy; autosomal recessive inheritance.
[G. an-, priv., + alpha, α, + lipoprotein + -emia, blood]
Etymology: Tangier Island, Virginia
a rare genetic disorder resulting in a deficiency of high-density lipoproteins, characterized by low blood cholesterol and an abnormal orange or yellow discoloration of the tonsils and pharynx. There also may be enlarged lymph nodes, liver, and spleen; muscle atrophy; and peripheral neuropathy. No specific treatment is known.
Tangier diseaseAn extremely rare (50 cases reported in world literature) autosomal-recessive condition caused by alpha-lipoprotein deficiency.
Generalised deposits of cholesteryl esters in tonsils and other lymphoid tissues, lymphadenopathy, hepatosplenomegaly, proximal peripheral neuropathy, intermittent diarrhoea, corneal opacification.
Absent HDL, decreased cholesterol (< 120 mg/dl), decreased phospholipids, decreased apoA-I and apoA-II, increased triglycerides.
Usually benign, rarely coronary heart disease.
Tangier diseaseAnalphalipoproteinemia A rare AR condition caused by a deficiency in α-lipoprotein Clinical Deposits of cholesteryl esters in tonsils, other lymphoid tissues, lymphadenopathy, hepatosplenomegaly, peripheral neuropathy, intermittent diarrhea, corneal opacification Lab Absent HDL, ↓ cholesterol < 120 mg/dl, ↓ phospholipids, ↓ apoA-I and apoA-II, ↑ TGs Prognosis Usually benign, rarely CAD. See Triglyceride.
Tangier Island,an island in the Chesapeake Bay where the first patient was diagnosed.
Tangier disease - Synonym(s): analphalipoproteinemia