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TE.190115 | |  Maladie de Tangier
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définition  | - 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)
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termes  | - Maladie de Tangier
Description Morphologique :NOM:_:s PRE NPR - Analphalipoprotéinémie
Description Morphologique :NPR - Déficit familial en HDL
Description Morphologique :NOM:_:s ADJ:m:s PRE NPR - Hypoalphalipoprotéinémie familiale
Description Morphologique :NOM:_:s ADJ:f:s
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termes | - Tangier Disease
- Familial alpha-Lipoprotein Deficiency Disease
- High-Density Lipoprotein Deficiency Disease, Familial
- HDL Lipoprotein Deficiency Disease
- Deficiency Disease, HDL Lipoprotein
- Analphalipoproteinemia
- Hypoalphalipoproteinemia, Familial
- Familial High-Density Lipoprotein Deficiency Disease
- alpha-Lipoprotein Deficiency Disease, Familial
- Lipoprotein Deficiency Disease, HDL, Familial
- alpha High-Density Lipoprotein Deficiency Disease
- Deficiency Disease, alpha High-Density Lipoprotein
- Deficiency Disease, Familial alpha-Lipoprotein
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arbre 
Maladie de Tangier
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