A

-

B

-

C

-

D

-

E

-

F

-

G

-

H

-

I

-

J

-

K

-

L

-

M

-

N

-

O

-

P

-

Q

-

R

-

S

-

T

-

U

-

V

-

W

-

X

-

Y

-

Z

Search Beginning of word Full word and in description

tangier disease		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) [ Articles | Books | Images | Discussion groups ]
Additional comments : (A-alphalipoprotein Neuropathy, Analphalipoproteinemia, Familial High-Density Lipoprotein Deficiency Disease, HDL Lipoprotein Deficiency Disease)

Back