Details of Disease | DrugMAP

General Information of Disease (ID: DISQ84S1)

Disease Name	Imerslund-Grasbeck syndrome
Synonyms	Grsbeck-Imerslund disease; enterocyte cobalamin malabsorption; defect of enterocyte intrinsic factor receptor; juvenile megaloblastic Anemia; selective cobalamin malabsorption with proteinuria; Imerslund-Grasbeck syndrome; juvenile megaloblastic Anaemia; familial megaloblastic anemia; familial megaloblastic anaemia; Imerslund-Grsbeck syndrome
Definition	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.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISTUC4M: Inborn disorder of cobalamin metabolism and transport DISQL71U: Inherited deficiency anemia DISVIZPC: Megaloblastic anemia DISQ84S1: Imerslund-Grasbeck syndrome
Disease Identifiers	MONDO ID MONDO_0009853 MESH ID C538556 UMLS CUI C4551825 OMIM ID 261100 MedGen ID 1640347 Orphanet ID 35858 SNOMED CT ID 234363001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CUBN	TT9YLCR	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMN	OTS1TJXG	Supportive	Autosomal recessive	[2]
CUBN	OT5A9HD3	Supportive	Autosomal recessive	[1]
CBLIF	OTNE20WU	Strong	Altered Expression	[3]
MT3	OTVCZ7HI	Strong	Genetic Variation	[4]
NDUFB3	OTDV12IF	Strong	Genetic Variation	[5]
TNFAIP1	OT37EWR0	Strong	Genetic Variation	[5]
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⏷ Show the Full List of 6 DOT(s)

References

1	Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet. 1999 Mar;21(3):309-13. doi: 10.1038/6831.
2	Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. Haematologica. 2011 Nov;96(11):1715-9. doi: 10.3324/haematol.2011.043984. Epub 2011 Jul 12.
3	An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Grsbeck syndrome in dogs.Mol Genet Metab. 2013 Aug;109(4):390-6. doi: 10.1016/j.ymgme.2013.05.006. Epub 2013 May 22.
4	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.
5	Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. Blood. 2000 Jul 15;96(2):405-9.