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Anemia, hypochromic microcytic with iron overload

MedGen UID:
388759
•Concept ID:
C2673913
•
Disease or Syndrome
Synonym: Anemia, Hypochromic Microcytic, With Iron Overload
SNOMED CT: Hypochromic microcytic anemia with iron overload (711161006); Microcytic anemia with liver iron overload (711161006); Microcytic anemia and hepatic iron overload (711161006)
 
Related genes: STEAP3, SLC11A2
 
Monarch Initiative: MONDO:0000104
OMIM®: 600523
OMIM® Phenotypic series: PS206100

Definition

A 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. [from ORPHANET]

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    • Anemia, hypochromic microcytic with iron overload
      Anemia, hypochromic microcytic with iron overload
      MedGen
    • Gene Expression Regulation, Developmental
      Gene Expression Regulation, Developmental
      Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism....<br/>Year introduced: 1995
      MeSH
    • RNA Splicing
      RNA Splicing
      The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.<br/>Year introduced: 1982
      MeSH
    • Transcriptional Activation
      Transcriptional Activation
      Processes that stimulate the GENETIC TRANSCRIPTION of a gene or set of genes.<br/>Year introduced: 2009 (1990)
      MeSH

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