Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0001700
megaloblastic anemia
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0016624
hereditary anemia
is_a
MONDO:0019220
inborn disorder of cobalamin metabolism and transport
is_a
Imerslund-Grasbeck syndrome
exact
Imerslund-Gräsbeck syndrome
exact
defect of enterocyte intrinsic factor receptor
related
familial megaloblastic anaemia
exact
familial megaloblastic anemia
exact
juvenile megaloblastic Anaemia
exact
juvenile megaloblastic Anemia
exact
selective cobalamin malabsorption with proteinuria
exact