MCID: HYP252
MIFTS: 16

Hypochromic Microcytic Anemia with Iron Overload

Categories: Rare diseases, Blood diseases, Genetic diseases, Metabolic diseases, Liver diseases

Aliases & Classifications for Hypochromic Microcytic Anemia with Iron Overload

MalaCards integrated aliases for Hypochromic Microcytic Anemia with Iron Overload:

Name: Hypochromic Microcytic Anemia with Iron Overload 49 24 28
Microcytic Anemia and Hepatic Iron Overload 49 24
Microcytic Anemia with Liver Iron Overload 49 24
Anemia, Hypochromic Microcytic, with Iron Overload 1 69
Ahmio1 49

Classifications:



External Ids:

UMLS 69 C3806153

Summaries for Hypochromic Microcytic Anemia with Iron Overload

Genetics Home Reference : 24 Hypochromic microcytic anemia with iron overload is a condition that impairs the normal transport of iron in cells. Iron is an essential component of hemoglobin, which is the substance that red blood cells use to carry oxygen to cells and tissues throughout the body. In this condition, red blood cells cannot access iron in the blood, so there is a decrease of red blood cell production (anemia) that is apparent at birth. The red blood cells that are produced are abnormally small (microcytic) and pale (hypochromic). Hypochromic microcytic anemia with iron overload can lead to pale skin (pallor), tiredness (fatigue), and slow growth.

MalaCards based summary : Hypochromic Microcytic Anemia with Iron Overload, also known as microcytic anemia and hepatic iron overload, is related to anemia, hypochromic microcytic, with iron overload 2 and anemia, hypochromic microcytic, with iron overload 1. An important gene associated with Hypochromic Microcytic Anemia with Iron Overload is SLC11A2 (Solute Carrier Family 11 Member 2). Affiliated tissues include skin and liver.

Related Diseases for Hypochromic Microcytic Anemia with Iron Overload

Diseases in the Hypochromic Microcytic Anemia with Iron Overload family:

Anemia, Hypochromic Microcytic, with Iron Overload 1 Anemia, Hypochromic Microcytic, with Iron Overload 2

Diseases related to Hypochromic Microcytic Anemia with Iron Overload via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anemia, hypochromic microcytic, with iron overload 2 11.5
2 anemia, hypochromic microcytic, with iron overload 1 11.1
3 hepatitis 10.2
4 microcytic anemia 10.2
5 hemosiderosis 10.2

Graphical network of the top 20 diseases related to Hypochromic Microcytic Anemia with Iron Overload:



Diseases related to Hypochromic Microcytic Anemia with Iron Overload

Symptoms & Phenotypes for Hypochromic Microcytic Anemia with Iron Overload

Drugs & Therapeutics for Hypochromic Microcytic Anemia with Iron Overload

Search Clinical Trials , NIH Clinical Center for Hypochromic Microcytic Anemia with Iron Overload

Genetic Tests for Hypochromic Microcytic Anemia with Iron Overload

Genetic tests related to Hypochromic Microcytic Anemia with Iron Overload:

# Genetic test Affiliating Genes
1 Hypochromic Microcytic Anemia with Iron Overload 28 SLC11A2

Anatomical Context for Hypochromic Microcytic Anemia with Iron Overload

MalaCards organs/tissues related to Hypochromic Microcytic Anemia with Iron Overload:

38
Skin, Liver

Publications for Hypochromic Microcytic Anemia with Iron Overload

Articles related to Hypochromic Microcytic Anemia with Iron Overload:

# Title Authors Year
1
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). ( 16160008 )
2006
2
A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload. ( 16584902 )
2006

Variations for Hypochromic Microcytic Anemia with Iron Overload

ClinVar genetic disease variations for Hypochromic Microcytic Anemia with Iron Overload:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC11A2 NM_001174125.1(SLC11A2): c.1284G> C (p.Glu428Asp) single nucleotide variant Pathogenic rs121918365 GRCh37 Chromosome 12, 51386593: 51386593
2 SLC11A2 SLC11A2, 3-BP DEL, 310CTT deletion Pathogenic
3 SLC11A2 NM_001174125.1(SLC11A2): c.1333C> T (p.Arg445Cys) single nucleotide variant Pathogenic rs121918366 GRCh37 Chromosome 12, 51386074: 51386074
4 SLC11A2 SLC11A2, 3-BP DEL, 428GTG deletion Pathogenic
5 SLC11A2 NM_001174125.1(SLC11A2): c.722G> T (p.Gly241Val) single nucleotide variant Pathogenic rs121918367 GRCh37 Chromosome 12, 51392997: 51392997

Expression for Hypochromic Microcytic Anemia with Iron Overload

Search GEO for disease gene expression data for Hypochromic Microcytic Anemia with Iron Overload.

Pathways for Hypochromic Microcytic Anemia with Iron Overload

GO Terms for Hypochromic Microcytic Anemia with Iron Overload

Sources for Hypochromic Microcytic Anemia with Iron Overload

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58 PubMed
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65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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