MCID: ANM035
MIFTS: 24

Anemia, Hypochromic Microcytic, with Iron Overload 1

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

Aliases & Classifications for Anemia, Hypochromic Microcytic, with Iron Overload 1

MalaCards integrated aliases for Anemia, Hypochromic Microcytic, with Iron Overload 1:

Name: Anemia, Hypochromic Microcytic, with Iron Overload 1 57 75 73
Ahmio1 57 75
Microcytic Anemia with Liver Iron Overload 59
Hypochromic Microcytic Anemia 75
Microcytic Hypochromic Anemia 73

Characteristics:

Orphanet epidemiological data:

59
microcytic anemia with liver iron overload
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
anemia, hypochromic microcytic, with iron overload 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 206100
Orphanet 59 ORPHA83642
UMLS via Orphanet 74 C2673913
ICD10 via Orphanet 34 D50.8
MedGen 42 C2673913
MeSH 44 D000747

Summaries for Anemia, Hypochromic Microcytic, with Iron Overload 1

UniProtKB/Swiss-Prot : 75 Anemia, hypochromic microcytic, with iron overload 1: A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis.

MalaCards based summary : Anemia, Hypochromic Microcytic, with Iron Overload 1, also known as ahmio1, is related to hypochromic microcytic anemia with iron overload. An important gene associated with Anemia, Hypochromic Microcytic, with Iron Overload 1 is SLC11A2 (Solute Carrier Family 11 Member 2). Affiliated tissues include liver, bone and bone marrow, and related phenotypes are abnormality of metabolism/homeostasis and anemia

Description from OMIM: 206100

Related Diseases for Anemia, Hypochromic Microcytic, with Iron Overload 1

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 Anemia, Hypochromic Microcytic, with Iron Overload 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypochromic microcytic anemia with iron overload 11.5

Symptoms & Phenotypes for Anemia, Hypochromic Microcytic, with Iron Overload 1

Symptoms via clinical synopsis from OMIM:

57
Heme:
anemia
hypochromia
microcytosis
marrow iron stores absent

Liver:
iron deposition

Lab:
serum iron high


Clinical features from OMIM:

206100

Human phenotypes related to Anemia, Hypochromic Microcytic, with Iron Overload 1:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 anemia 32 HP:0001903
3 abnormality of the liver 32 HP:0001392
4 decreased mean corpuscular volume 32 HP:0025066

Drugs & Therapeutics for Anemia, Hypochromic Microcytic, with Iron Overload 1

Search Clinical Trials , NIH Clinical Center for Anemia, Hypochromic Microcytic, with Iron Overload 1

Genetic Tests for Anemia, Hypochromic Microcytic, with Iron Overload 1

Anatomical Context for Anemia, Hypochromic Microcytic, with Iron Overload 1

MalaCards organs/tissues related to Anemia, Hypochromic Microcytic, with Iron Overload 1:

41
Liver, Bone, Bone Marrow

Publications for Anemia, Hypochromic Microcytic, with Iron Overload 1

Articles related to Anemia, Hypochromic Microcytic, with Iron Overload 1:

(show all 18)
# Title Authors Year
1
Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload. ( 29178181 )
2018
2
Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The A^stanbul Perspective. ( 26377141 )
2015
3
I+-Thalassemia frequency and mutations in children with hypochromic microcytic anemias and relation with I^-thalassemia, iron deficiency anemia. ( 22475300 )
2012
4
Hypochromic microcytic anemia with a variant hemoglobin. ( 19006231 )
2009
5
Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia. ( 19579082 )
2009
6
hem6: an ENU-induced recessive hypochromic microcytic anemia mutation in the mouse. ( 18780836 )
2008
7
Hypochromic microcytic anemia as a clinical presentation of celiac disease. ( 16812948 )
2006
8
nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse. ( 15994289 )
2005
9
A 16-year-old girl with hypochromic microcytic anemia. ( 16253038 )
2005
10
Severe hypochromic microcytic anemia caused by a congenital defect of the iron transport pathway in erythroid cells. ( 15121718 )
2004
11
Ferrochelatase deficiency in the bone marrow in a syndrome of congenital hypochromic microcytic anemia, hyperferremia, and iron overload of the liver. ( 3856939 )
1985
12
Transferrin loss into the urine with hypochromic, microcytic anemia. ( 1246990 )
1976
13
Hereditary hypochromic microcytic anemia in the laboratory rat. ( 5958911 )
1966
14
MILK-INDUCED GASTROINTESTINAL BLEEDING IN INFANTS WITH HYPOCHROMIC MICROCYTIC ANEMIA. ( 14162565 )
1964
15
Hereditary hypochromic microcytic anemia in obstetrics and gynecology. ( 14488836 )
1962
16
Glycine in hypochromic microcytic anemia. ( 13644763 )
1959
17
Hypochromic microcytic anemia of infancy; iron depletion as a factor. ( 13378924 )
1956
18
The pathogenesis of hypochromic microcytic anemia. ( 13163531 )
1954

Variations for Anemia, Hypochromic Microcytic, with Iron Overload 1

UniProtKB/Swiss-Prot genetic disease variations for Anemia, Hypochromic Microcytic, with Iron Overload 1:

75
# Symbol AA change Variation ID SNP ID
1 SLC11A2 p.Gly212Val VAR_033012 rs121918367
2 SLC11A2 p.Glu399Asp VAR_033013 rs121918365
3 SLC11A2 p.Arg416Cys VAR_033014 rs121918366

ClinVar genetic disease variations for Anemia, Hypochromic Microcytic, with Iron Overload 1:

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 Anemia, Hypochromic Microcytic, with Iron Overload 1

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Pathways for Anemia, Hypochromic Microcytic, with Iron Overload 1

GO Terms for Anemia, Hypochromic Microcytic, with Iron Overload 1

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