Details of Disease | DrugMAP

General Information of Disease (ID: DISUTENN)

Disease Name	Imerslund-Grasbeck syndrome type 1
Synonyms	MGA1; Mga1; megaloblastic Anaemia type 1; MGA-1; enterocyte intrinsic factor receptor, defect of; megaloblastic anemia, Finnish type; megaloblastic Anemia type 1; enterocyte cobalamin malabsorption; megaloblastic anemia, 1; pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria; Imerslund-Grasbeck syndrome type 1; Imerslund-Grasbeck syndrome 1
Definition	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.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISQ84S1: Imerslund-Grasbeck syndrome DISUTENN: Imerslund-Grasbeck syndrome type 1
Disease Identifiers	MONDO ID MONDO_0100156 UMLS CUI C4016819 MedGen ID 865256

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	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMN	OTS1TJXG	Strong	Autosomal recessive	[2]
CUBN	OT5A9HD3	Definitive	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. Nat Genet. 2003 Mar;33(3):426-9. doi: 10.1038/ng1098. Epub 2003 Feb 18.