Imerslund-Grasbeck syndrome type 1
An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0009853
Imerslund-Grasbeck syndrome
is_a
Imerslund-Grasbeck syndrome 1
exact
Imerslund-Grasbeck syndrome type 1
exact
MGA-1
exact
MGA1
exact
Mga1
exact
enterocyte cobalamin malabsorption
exact
enterocyte intrinsic factor receptor, defect of
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megaloblastic Anaemia type 1
exact
megaloblastic Anemia type 1
exact
megaloblastic anemia, 1
exact
megaloblastic anemia, Finnish type
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pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria
exact