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GENATLAS PHENOTYPE

last update : 23/12/2008

Symbol	ACP2
Location	11p11.2
Name	phosphatase acid, deficiency
Corresponding gene	ACP2
Main clinical features	intermittent vomiting, hypotonia, lethargy, opisthotonos, terminal bleeding, and death in early infancy deficiency of lysosomal acid phosphatase in multiple tissues
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lysosomal
Type	disease

Gene product

Name	phosphatase acid,lysosomal (ACP2)

Remark(s)