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GENATLAS PHENOTYPE

last update : 01-09-2011

Symbol	SPENCD1
Location	19p13.2
Name	spondyloenchondrodysplasia with immune dysregulation 1
Corresponding gene	ACP5
Main clinical features	typical metaphyseal and vertebral bone lesions in spondyloenchondrodysplasia associated with immune dysfunction and neurologic involvement all cases showed elevated serum interferon alpha activity
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
	osteo-articular
Type	disease

Remark(s)

. loss of ACP5 protein results in a dramatic upregulation of interferon alpha and type I interferon–stimulated genes (PMID: 21217752))