MCID: HYP252
MIFTS: 18

Hypochromic Microcytic Anemia with Iron Overload

Categories: Blood diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare 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 20 43 29 39
Microcytic Anemia and Hepatic Iron Overload 20 43
Microcytic Anemia with Liver Iron Overload 20 43
Anemia, Hypochromic Microcytic, with Iron Overload 1 70
Ahmio1 20

Classifications:



External Ids:

UMLS 70 C3806153

Summaries for Hypochromic Microcytic Anemia with Iron Overload

MedlinePlus Genetics : 43 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.In hypochromic microcytic anemia with iron overload, the iron that is not used by red blood cells accumulates in the liver, which can impair its function over time. The liver problems typically become apparent in adolescence or early adulthood.

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 deficiency anemia. An important gene associated with Hypochromic Microcytic Anemia with Iron Overload is SLC11A2 (Solute Carrier Family 11 Member 2), and among its related pathways/superpathways are Insulin receptor recycling and Copper homeostasis. Affiliated tissues include liver.

Related Diseases for Hypochromic Microcytic Anemia with Iron Overload

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 29

Anatomical Context for Hypochromic Microcytic Anemia with Iron Overload

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

40
Liver

Publications for Hypochromic Microcytic Anemia with Iron Overload

Articles related to Hypochromic Microcytic Anemia with Iron Overload:

# Title Authors PMID Year
1
A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload. 61
21871825 2011
2
A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload. 61
16584902 2006
3
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). 61
16160008 2006

Variations for Hypochromic Microcytic Anemia with Iron Overload

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

Pathways related to Hypochromic Microcytic Anemia with Iron Overload according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.71 STEAP3 SLC11A2
2 10.89 STEAP3 SLC11A2
3 10.57 STEAP3 SLC11A2
4 9.7 STEAP3 SLC11A2

GO Terms for Hypochromic Microcytic Anemia with Iron Overload

Cellular components related to Hypochromic Microcytic Anemia with Iron Overload according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 8.62 STEAP3 SLC11A2

Biological processes related to Hypochromic Microcytic Anemia with Iron Overload according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion homeostasis GO:0055072 8.62 STEAP3 SLC11A2

Sources for Hypochromic Microcytic Anemia with Iron Overload

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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