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GENATLAS PHENOTYPE

last update : 05-10-2015

Symbol	CPD
Location	3q25.1
Name	hypoceruloplasminemia severe with ceruloplasmin deficiency
Other name(s)	aceruloplasminemia
Corresponding gene	CP
Main clinical features	progressive late-onset neurodegenerative syndrome of dysarthria, gait disturbance, non insulin-dependent diabetes mellitus, sytemic hemosiderosis complete deficiency of serum ceruloplasmin and iron accumulation in the liver and brain
Genetic determination	autosomal recessive
Function/system disorder	metabolism/carbohydrates
	metabolism/metal
	neurology
Type	disease

Gene product

Name	ceruloplasmin (CP)

Remark(s)