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GENATLAS PHENOTYPE

last update : 18/10/2008

Symbol	ARH
Location	1p36.11
Name	hypercholesterolemia, severe
Corresponding gene	LDLRAP1
Other symbol(s)	FHCB1, ARH2, FHCB2
Main clinical features	age of diagnosis can vary between the first and fifth decades of life associated with premature coronary heart disease and massive deposits of LDL-derived cholesterol in the skin, normal plasma LDL in obligate heterozygotes early appearance of corneal arcus, cutaneous planar xanthomata over hands and extremities, tuberous xanthomata over elbows and tendinous xanthomata in the hand extensor and Achilles tendons
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lipoprotein-lipid
Type	disease

Gene product

Name	LDL receptor adaptor

Remark(s)