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GENATLAS PHENOTYPE

last update : 03/01/2009

Symbol	CCLD
Location	11q23.3
Name	corneal opacities with HDL deficiency
Corresponding gene	APOA1
Main clinical features	very low HDL and heart failure from coronary artery disease, arcus cornealis, xanthelasmata and extensive infiltrative xanthoma of the neck and antecubital fossa, resembling somewhat the changes of pseudoxanthoma elasticum skin histology showed collections of lipid-laden histiocytes obligatory heterozygotes may be at increased risk of atherosclerosis
Genetic determination	autosomal recessive
Related entries	including analphalipoproteinemia (corneal clouding)
Function/system disorder	metabolism/lipoprotein-lipid
	eye
Type	disease

Gene product

Name	apolipoprotein A-I (APOA1)

Remark(s)