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GENATLAS PHENOTYPE

last update : 03/12/2008

Symbol	HARP
Location	20p13
Name	hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa and pallidal degeneration
Other name(s)	HARP syndrome
Corresponding gene	PANK2
Main clinical features	severe spasticity and dystonia since early childhood; on funduscopic examination pigmentary retinopathy and the 'eye of the tiger' sign on brain MRI, associated to longstanding intellectual subnormality, night blindness, and orobuccolingual dystonia causing dysarthria and dysphagia marked acanthocytosis that was not due to an intrinsic erythrocyte protein defect with absence of the pre-beta fraction, with normal blood levels of cholesterol, triglycerides, high and low density lipoprotein cholesterol, and apolipoproteins A, B, and C
Genetic determination	autosomal dominant
Function/system disorder	metabolism/lipoprotein-lipid
	eye
	neurology
Type	disease

Gene product

Name	pantothenate kinase-2

Remark(s)