Details of Disease

General Information of Disease (ID: DIS3WKE8)

• Disease Name: Microcytic anemia with liver iron overload
• Synonyms: microcytic anaemia and hepatic iron overload; microcytic anemia and hepatic iron overload; hypochromic microcytic anemia with iron overload; AHMIO1; hypochromic microcytic anaemia with iron overload; anemia, hypochromic microcytic, with iron overload 1; anemia, hypochromic microcytic, with iron overload type 1
• Definition: Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.
• Disease Hierarchy:
  DISQL71U: Inherited deficiency anemia
  DIS372GD: Disorder of iron metabolism and transport
  DIST0BXW: Anemia, hypochromic microcytic with iron overload
  DIS3WKE8: Microcytic anemia with liver iron overload
• Disease Identifiers:
  MONDO ID: MONDO_0008787
  UMLS CUI: C3806153
  OMIM ID: 206100
  MedGen ID: 812483
  Orphanet ID: 83642

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC11A2	TT2IS7P	Strong	Genetic Variation	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC11A2	DTVKMHD	Strong	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC11A2	OTMEUHE8	Strong	Autosomal recessive	[2]

References

• [1] Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). Blood. 2006 Jan 1;107(1):349-54. doi: 10.1182/blood-2005-06-2477. Epub 2005 Sep 13.
• [2] 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.