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GENATLAS PHENOTYPE

last update : 12/06/2006

Symbol	ADA
Location	20q12
Name	severe, combined (complete ADA deficiency)
Other name(s)	SCID due to ADA deficiency, early onset
Corresponding gene	ADA
related resource	Mutation registry for Adenosine Deaminase Deficiency -ADAbase
Other symbol(s)	ADA-SCID
Main clinical features	associating immunodeficiency (B-T cell CD4-lympho and thrombopenia), skeletal dysplasia, recurrent respiratory infections and asthma, hepatoplenomegaly, or slow progressive or late onset (partial ADA deficiency)
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Gene product

Name	adenosine deaminase