Details of Disease | DrugMAP

General Information of Disease (ID: DISP0GWY)

Disease Name	Atransferrinemia
Synonyms	transferrin serum level quantitative trait locus 1; hypotransferrinemia, familial; congenital hypotransferrinemia; hereditary atransferrinemia; congenital atransferrinemia; atransferrinemia; familial hypotransferrinemia
Definition	Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.
Disease Hierarchy	DISQL71U: Inherited deficiency anemia DIS372GD: Disorder of iron metabolism and transport DIS0HB59: Inborn metal metabolism disorder DISP0GWY: Atransferrinemia
Disease Identifiers	MONDO ID MONDO_0008846 MESH ID C538259 UMLS CUI C0521802 OMIM ID 209300 MedGen ID 105489 HPO ID HP:0012239 Orphanet ID 1195 SNOMED CT ID 111571009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TF	TTV5YEH	Strong	Autosomal recessive	[1]
TF	TT8WXAV	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TF	OT41PEMS	Strong	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	Effects of plasma transfusion on hepcidin production in human congenital hypotransferrinemia.Haematologica. 2007 Oct;92(10):1407-10. doi: 10.3324/haematol.11377.