MCID: HYP252
MIFTS: 22

Hypochromic Microcytic Anemia with Iron Overload

Categories: Rare diseases, Liver diseases, Genetic diseases, Metabolic diseases, Blood 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 53 25 29 6 40
Microcytic Anemia and Hepatic Iron Overload 53 25
Microcytic Anemia with Liver Iron Overload 53 25
Anemia, Hypochromic Microcytic, with Iron Overload 1 73
Ahmio1 53

Classifications:



External Ids:

UMLS 73 C3806153

Summaries for Hypochromic Microcytic Anemia with Iron Overload

Genetics Home Reference : 25 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 microcytic anemia and anemia, hypochromic microcytic, with iron overload 2. 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 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 microcytic anemia 28.7 SLC11A2 STEAP3
2 anemia, hypochromic microcytic, with iron overload 2 11.8
3 anemia, hypochromic microcytic, with iron overload 1 11.1
4 hemosiderosis 10.3
5 hepatitis 10.3
6 hypochromic microcytic anemia 9.1 SLC11A2 STEAP3

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 SLC11A2

Anatomical Context for Hypochromic Microcytic Anemia with Iron Overload

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

41
Skin, Liver

Publications for Hypochromic Microcytic Anemia with Iron Overload

Articles related to Hypochromic Microcytic Anemia with Iron Overload:

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

Variations for Hypochromic Microcytic Anemia with Iron Overload

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

6
(show top 50) (show all 118)
# 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 NM_001174125.1(SLC11A2): c.1284G> C (p.Glu428Asp) single nucleotide variant Pathogenic rs121918365 GRCh38 Chromosome 12, 50992810: 50992810
3 SLC11A2 SLC11A2, 3-BP DEL, 310CTT deletion Pathogenic
4 SLC11A2 NM_001174125.1(SLC11A2): c.1333C> T (p.Arg445Cys) single nucleotide variant Pathogenic rs121918366 GRCh37 Chromosome 12, 51386074: 51386074
5 SLC11A2 NM_001174125.1(SLC11A2): c.1333C> T (p.Arg445Cys) single nucleotide variant Pathogenic rs121918366 GRCh38 Chromosome 12, 50992291: 50992291
6 SLC11A2 SLC11A2, 3-BP DEL, 428GTG deletion Pathogenic
7 SLC11A2 NM_001174125.1(SLC11A2): c.722G> T (p.Gly241Val) single nucleotide variant Pathogenic rs121918367 GRCh37 Chromosome 12, 51392997: 51392997
8 SLC11A2 NM_001174125.1(SLC11A2): c.722G> T (p.Gly241Val) single nucleotide variant Pathogenic rs121918367 GRCh38 Chromosome 12, 50999214: 50999214
9 SLC11A2 NM_000617.2(SLC11A2): c.*2289G> T single nucleotide variant Uncertain significance rs867212578 GRCh37 Chromosome 12, 51379819: 51379819
10 SLC11A2 NM_000617.2(SLC11A2): c.*2289G> T single nucleotide variant Uncertain significance rs867212578 GRCh38 Chromosome 12, 50986036: 50986036
11 SLC11A2 NM_000617.2(SLC11A2): c.*1902C> G single nucleotide variant Uncertain significance rs886049558 GRCh37 Chromosome 12, 51380206: 51380206
12 SLC11A2 NM_000617.2(SLC11A2): c.*1902C> G single nucleotide variant Uncertain significance rs886049558 GRCh38 Chromosome 12, 50986423: 50986423
13 SLC11A2 NM_000617.2(SLC11A2): c.*1599C> T single nucleotide variant Uncertain significance rs886049559 GRCh37 Chromosome 12, 51380509: 51380509
14 SLC11A2 NM_000617.2(SLC11A2): c.*1599C> T single nucleotide variant Uncertain significance rs886049559 GRCh38 Chromosome 12, 50986726: 50986726
15 SLC11A2 NM_000617.2(SLC11A2): c.*1261G> A single nucleotide variant Uncertain significance rs60725885 GRCh37 Chromosome 12, 51380847: 51380847
16 SLC11A2 NM_000617.2(SLC11A2): c.*1261G> A single nucleotide variant Uncertain significance rs60725885 GRCh38 Chromosome 12, 50987064: 50987064
17 SLC11A2 NM_000617.2(SLC11A2): c.*1031G> A single nucleotide variant Benign rs150909 GRCh37 Chromosome 12, 51381077: 51381077
18 SLC11A2 NM_000617.2(SLC11A2): c.*1031G> A single nucleotide variant Benign rs150909 GRCh38 Chromosome 12, 50987294: 50987294
19 SLC11A2 NM_000617.2(SLC11A2): c.*546G> A single nucleotide variant Uncertain significance rs193030246 GRCh37 Chromosome 12, 51381562: 51381562
20 SLC11A2 NM_000617.2(SLC11A2): c.*546G> A single nucleotide variant Uncertain significance rs193030246 GRCh38 Chromosome 12, 50987779: 50987779
21 SLC11A2 NM_000617.2(SLC11A2): c.1348-10T> C single nucleotide variant Uncertain significance rs189993499 GRCh37 Chromosome 12, 51385465: 51385465
22 SLC11A2 NM_000617.2(SLC11A2): c.1348-10T> C single nucleotide variant Uncertain significance rs189993499 GRCh38 Chromosome 12, 50991682: 50991682
23 SLC11A2 NM_000617.2(SLC11A2): c.1258A> G (p.Ile420Val) single nucleotide variant Uncertain significance rs148582995 GRCh37 Chromosome 12, 51386062: 51386062
24 SLC11A2 NM_000617.2(SLC11A2): c.1258A> G (p.Ile420Val) single nucleotide variant Uncertain significance rs148582995 GRCh38 Chromosome 12, 50992279: 50992279
25 SLC11A2 NM_000617.2(SLC11A2): c.1254T> C (p.Ile418=) single nucleotide variant Benign rs1048230 GRCh37 Chromosome 12, 51386066: 51386066
26 SLC11A2 NM_000617.2(SLC11A2): c.1254T> C (p.Ile418=) single nucleotide variant Benign rs1048230 GRCh38 Chromosome 12, 50992283: 50992283
27 SLC11A2 NM_000617.2(SLC11A2): c.1206G> A (p.Leu402=) single nucleotide variant Uncertain significance rs761054843 GRCh37 Chromosome 12, 51386114: 51386114
28 SLC11A2 NM_000617.2(SLC11A2): c.1206G> A (p.Leu402=) single nucleotide variant Uncertain significance rs761054843 GRCh38 Chromosome 12, 50992331: 50992331
29 SLC11A2 NM_000617.2(SLC11A2): c.647C> T (p.Thr216Ile) single nucleotide variant Uncertain significance rs886049567 GRCh37 Chromosome 12, 51392985: 51392985
30 SLC11A2 NM_000617.2(SLC11A2): c.647C> T (p.Thr216Ile) single nucleotide variant Uncertain significance rs886049567 GRCh38 Chromosome 12, 50999202: 50999202
31 SLC11A2 NM_000617.2(SLC11A2): c.*2320delA deletion Uncertain significance rs141968385 GRCh37 Chromosome 12, 51379788: 51379788
32 SLC11A2 NM_000617.2(SLC11A2): c.*2320delA deletion Uncertain significance rs141968385 GRCh38 Chromosome 12, 50986005: 50986005
33 SLC11A2 NM_000617.2(SLC11A2): c.*1949A> G single nucleotide variant Uncertain significance rs72561485 GRCh37 Chromosome 12, 51380159: 51380159
34 SLC11A2 NM_000617.2(SLC11A2): c.*1949A> G single nucleotide variant Uncertain significance rs72561485 GRCh38 Chromosome 12, 50986376: 50986376
35 SLC11A2 NM_000617.2(SLC11A2): c.*1486G> T single nucleotide variant Uncertain significance rs116731209 GRCh37 Chromosome 12, 51380622: 51380622
36 SLC11A2 NM_000617.2(SLC11A2): c.*1486G> T single nucleotide variant Uncertain significance rs116731209 GRCh38 Chromosome 12, 50986839: 50986839
37 SLC11A2 NM_000617.2(SLC11A2): c.*1215A> C single nucleotide variant Likely benign rs17125172 GRCh37 Chromosome 12, 51380893: 51380893
38 SLC11A2 NM_000617.2(SLC11A2): c.*1215A> C single nucleotide variant Likely benign rs17125172 GRCh38 Chromosome 12, 50987110: 50987110
39 SLC11A2 NM_000617.2(SLC11A2): c.*986C> A single nucleotide variant Uncertain significance rs886049561 GRCh37 Chromosome 12, 51381122: 51381122
40 SLC11A2 NM_000617.2(SLC11A2): c.*986C> A single nucleotide variant Uncertain significance rs886049561 GRCh38 Chromosome 12, 50987339: 50987339
41 SLC11A2 NM_000617.2(SLC11A2): c.*970A> G single nucleotide variant Uncertain significance rs886049563 GRCh37 Chromosome 12, 51381138: 51381138
42 SLC11A2 NM_000617.2(SLC11A2): c.*970A> G single nucleotide variant Uncertain significance rs886049563 GRCh38 Chromosome 12, 50987355: 50987355
43 SLC11A2 NM_000617.2(SLC11A2): c.*390G> A single nucleotide variant Benign rs224446 GRCh37 Chromosome 12, 51381718: 51381718
44 SLC11A2 NM_000617.2(SLC11A2): c.*390G> A single nucleotide variant Benign rs224446 GRCh38 Chromosome 12, 50987935: 50987935
45 SLC11A2 NM_000617.2(SLC11A2): c.*153A> G single nucleotide variant Uncertain significance rs146016854 GRCh38 Chromosome 12, 50988172: 50988172
46 SLC11A2 NM_000617.2(SLC11A2): c.*153A> G single nucleotide variant Uncertain significance rs146016854 GRCh37 Chromosome 12, 51381955: 51381955
47 SLC11A2 NM_000617.2(SLC11A2): c.*11G> A single nucleotide variant Uncertain significance rs201382454 GRCh37 Chromosome 12, 51382097: 51382097
48 SLC11A2 NM_000617.2(SLC11A2): c.*11G> A single nucleotide variant Uncertain significance rs201382454 GRCh38 Chromosome 12, 50988314: 50988314
49 SLC11A2 NM_000617.2(SLC11A2): c.1584A> G (p.Gln528=) single nucleotide variant Uncertain significance rs761505350 GRCh37 Chromosome 12, 51382210: 51382210
50 SLC11A2 NM_000617.2(SLC11A2): c.1584A> G (p.Gln528=) single nucleotide variant Uncertain significance rs761505350 GRCh38 Chromosome 12, 50988427: 50988427

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
11.7 SLC11A2 STEAP3
2 10.89 SLC11A2 STEAP3
3 10.56 SLC11A2 STEAP3
4 9.7 SLC11A2 STEAP3

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 GO:0005768 8.96 SLC11A2 STEAP3
2 endosome membrane GO:0010008 8.62 SLC11A2 STEAP3

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 SLC11A2 STEAP3

Sources for Hypochromic Microcytic Anemia with Iron Overload

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