Hereditary intrinsic factor deficiency

rare

Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.

Identifiers: MONDO:0009852 OMIM:261000 Orphanet:332
Causal genes: CBLIF
Part of: Hereditary anemia Inborn disorder of cobalamin metabolism and transport
Also known as: congenital intrinsic factor deficiency · congenital pernicious anaemia · congenital pernicious anaemia due to defect of intrinsic factor · congenital pernicious anemia · congenital pernicious anemia due to defect of intrinsic factor

Subtypes

All diseases Rare only

Disease	ID	Subtypes
Intrinsic factor and r binder, combined congenital deficiency of	MONDO:0009471

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