Details of Disease | DrugMAP

General Information of Disease (ID: DISCZQBU)

Disease Name	Hereditary intrinsic factor deficiency
Synonyms	pernicious Anemia, congenital, due to defect of intrinsic Factor; congenital pernicious anaemia due to defect of intrinsic factor; intrinsic factor, congenital deficiency of; congenital pernicious anemia due to defect of intrinsic factor; intrinsic factor deficiency; congenital intrinsic factor deficiency; IFD; congenital pernicious anemia; gastric intrinsic factor deficiency; hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; congenital pernicious anaemia; hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency
Definition	Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.
Disease Hierarchy	DISTUC4M: Inborn disorder of cobalamin metabolism and transport DISQL71U: Inherited deficiency anemia DIS4WFRS: Inborn vitamin B12 deficiency DISCZQBU: Hereditary intrinsic factor deficiency
Disease Identifiers	MONDO ID MONDO_0009852 MESH ID C563242 UMLS CUI C1394891 OMIM ID 261000 MedGen ID 235598 Orphanet ID 332 SNOMED CT ID 234361004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMN	OTS1TJXG	Strong	Genetic Variation	[1]
CBLIF	OTNE20WU	Strong	Autosomal recessive	[2]
MT3	OTVCZ7HI	Strong	Genetic Variation	[3]
CLEC7A	OTRTBH27	Definitive	Genetic Variation	[4]
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References

1	Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.Orphanet J Rare Dis. 2012 Aug 28;7:56. doi: 10.1186/1750-1172-7-56.
2	Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency. Blood. 2004 Feb 15;103(4):1515-7. doi: 10.1182/blood-2003-07-2239. Epub 2003 Oct 23.
3	Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant.Biochimie. 2013 May;95(5):995-1001. doi: 10.1016/j.biochi.2013.01.022. Epub 2013 Feb 8.
4	Dectin-1 rs3901533 and rs7309123 Polymorphisms Increase Susceptibility to Pulmonary Invasive Fungal Disease in Patients with Acute Myeloid Leukemia from a Chinese Han Population.Curr Med Sci. 2019 Dec;39(6):906-912. doi: 10.1007/s11596-019-2122-3. Epub 2019 Dec 16.