Details of Disease

General Information of Disease (ID: DISWDM9J)

• Disease Name: Iron metabolism disease
• Synonyms: metabolism disorders, iron; metabolism disorder, iron; iron metabolism disorder; disorders, iron metabolism; disorder, iron metabolism; iron disorder; disorder of iron metabolism
• Definition: Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.
• Disease Hierarchy:
  DISV96AT: Mineral metabolism disease
  DISWDM9J: Iron metabolism disease
• Disease Identifiers:
  MONDO ID: MONDO_0002279
  MESH ID: D019189
  UMLS CUI: C0012715
  MedGen ID: 8438
  SNOMED CT ID: 30913008

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Deferasirox	DM6ETS0	Approved	NA	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC40A1	TT6Y1PG	moderate	Genetic Variation	[2]
HAMP	TTRV5YJ	Strong	Altered Expression	[3]
TF	TT8WXAV	Strong	Genetic Variation	[4]
TFRC	TT8MG4S	Strong	Biomarker	[5]
TMPRSS6	TTL9KE7	Strong	Genetic Variation	[6]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HILPDA	OTEID3ZM	moderate	Altered Expression	[7]
CP	OTM8JE4Y	Strong	Biomarker	[8]
FTL	OTYQA8A6	Strong	Biomarker	[9]
HFE	OTDD93KB	Strong	Biomarker	[10]
IREB2	OT747D24	Strong	Biomarker	[11]
MON1A	OTH2V54F	Strong	Biomarker	[12]

References

• [1] Deferasirox FDA Label
• [2] A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro.Am J Hematol. 2014 Jul;89(7):689-94. doi: 10.1002/ajh.23714. Epub 2014 Apr 10.
• [3] Serum and salivary ferritin and Hepcidin levels in patients with chronic periodontitis and type 2 diabetes mellitus.BMC Oral Health. 2018 Apr 10;18(1):63. doi: 10.1186/s12903-018-0524-4.
• [4] Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.J Hepatol. 2015 Mar;62(3):664-72. doi: 10.1016/j.jhep.2014.10.017. Epub 2014 Oct 18.
• [5] The use of soluble transferrin receptor to assess iron deficiency in adults with cystic fibrosis.Clin Chim Acta. 2007 Mar;378(1-2):194-200. doi: 10.1016/j.cca.2006.11.021. Epub 2006 Dec 6.
• [6] Functional diversity of TMPRSS6 isoforms and variants expressed in hepatocellular carcinoma cell lines.Sci Rep. 2018 Aug 22;8(1):12562. doi: 10.1038/s41598-018-30618-z.
• [7] Long Non-Coding RNA PVT1/miR-150/ HIG2 Axis Regulates the Proliferation, Invasion and the Balance of Iron Metabolism of Hepatocellular Carcinoma.Cell Physiol Biochem. 2018;49(4):1403-1419. doi: 10.1159/000493445. Epub 2018 Sep 11.
• [8] Age-related changes in iron homeostasis and cell death in the cerebellum of ceruloplasmin-deficient mice.J Neurosci. 2006 Sep 20;26(38):9810-9. doi: 10.1523/JNEUROSCI.2922-06.2006.
• [9] Characterization of the l-ferritin variant 460InsA responsible of a hereditary ferritinopathy disorder.Neurobiol Dis. 2006 Sep;23(3):644-52. doi: 10.1016/j.nbd.2006.05.004. Epub 2006 Jul 5.
• [10] H63D mutation in hemochromatosis alters cholesterol metabolism and induces memory impairment.Neurobiol Aging. 2014 Jun;35(6):1511.e1-12. doi: 10.1016/j.neurobiolaging.2013.12.014. Epub 2013 Dec 25.
• [11] Irp2 Knockout Causes Osteoporosis by Inhibition of Bone Remodeling.Calcif Tissue Int. 2019 Jan;104(1):70-78. doi: 10.1007/s00223-018-0469-2. Epub 2018 Sep 6.
• [12] Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in mice.Nat Genet. 2007 Aug;39(8):1025-32. doi: 10.1038/ng2059. Epub 2007 Jul 15.