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GENATLAS PHENOTYPE

last update : 12-05-2010

Symbol	SAPD
Location	10q22.1
Name	saposin D deficiency
Other name(s)	prosaposin deficiency combined SAP deficiency
Corresponding gene	PSAP
Other symbol(s)	PSAPD
Main clinical features	shortly after birth, hyperkinetic behavior, myoclonus, respiratory insufficiency, and hepatosplenomegaly Gaucher-like storage cells were found in the bone marrow, and elevated levels of glucosylceramide and ceramide in the liver
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lysosomal
Type	disease

Remark(s)