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GENATLAS PHENOTYPE

last update : 10-07-2019

Symbol	ALFSA
Location	7q22.3
Name	acute liver failure with skeletal abnormalities
Corresponding gene	RINT1
Main clinical features	recurrent acute liver failure, repeated episodes of severe liver injury with recovery of hepatic function between crises liver biopsies revealed nonspecific liver damage including fibrosis, steatosis, or mild increases in Kupffer cells skeletal imaging revealed abnormalities affecting the vertebrae and pelvis
Genetic determination	autosomal recessive
Function/system disorder	digestive tract/liver and annex
	osteo-articular
Type	disease

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