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GENATLAS PHENOTYPE

last update : 12-12-2018

Symbol	MGA1
Location	14q32.3
Name	megaloblastic anemia 1
Other name(s)	Imerslund-Grasbeck syndrome 1 enterocyte cobalamin malabsorption
Corresponding gene	AMN
Other symbol(s)	IGS1
Main clinical features	selective intestinal Vit B12 malabsorption defect that is characterized by the frequent association of juvenile megaloblastic anaemia and a benign proteinuria of the tubular type pernicious anemia juvenile with selective intestinal malabsorption of vitamin B12 and proteinuria therapy consists of periodic parenteral administration of Vit B12 that restores normal metabolism and haematopoiesis
Genetic determination	autosomal recessive
Function/system disorder	hematology
	digestive tract/gastrointestinal
Type	disease

Remark(s)