AHMIO1
MCID: ANM035
MIFTS: 30

Anemia, Hypochromic Microcytic, with Iron Overload 1 (AHMIO1)

Categories: Blood diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare 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 and iron-refractory iron deficiency anemia. 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:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 hypochromic microcytic anemia 12.7
2 iron-refractory iron deficiency anemia 12.1
3 hypochromic microcytic anemia with iron overload 11.7
4 anemia, hypochromic microcytic, with iron overload 2 11.7
5 fetal hemoglobin quantitative trait locus 1 11.3
6 anemia, sideroblastic, 1 11.3
7 anemia, sideroblastic, and spinocerebellar ataxia 11.3
8 majeed syndrome 11.3
9 microcytic anemia 10.8
10 deficiency anemia 10.4
11 thalassemia 10.4
12 hemosiderosis 10.4
13 atransferrinemia 10.2
14 celiac disease 1 10.2
15 alpha-thalassemia 10.2
16 iron deficiency anemia 10.2
17 iron metabolism disease 10.2

Graphical network of the top 20 diseases related to Anemia, Hypochromic Microcytic, with Iron Overload 1:



Diseases related to Anemia, Hypochromic Microcytic, with Iron Overload 1

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

Symptoms via clinical synopsis from OMIM:

57
Heme:
anemia
microcytosis
hypochromia
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, Myeloid

Publications for Anemia, Hypochromic Microcytic, with Iron Overload 1

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

(show all 20)
# Title Authors Year
1
Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. ( 30456712 )
2018
2
Diagnosis and molecular characterization of a novel α0 -thalassemia deletion (-Kozani) found in a Greek child with unexplained microcytic hypochromic anemia. ( 28603861 )
2017
3
Erythrocyte Catalase Activity in More Frequent Microcytic Hypochromic Anemia: Beta-Thalassemia Trait and Iron Deficiency Anemia. ( 26527217 )
2015
4
Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin. ( 25585695 )
2015
5
Microcytic hypochromic anemia: should high performance liquid chromatography be used routinely for screening anemic and antenatal patients? ( 24056645 )
2013
6
Molecular spectrum of alpha-thalassemia mutations in microcytic hypochromic anemia patients from Saudi Arabia. ( 19371220 )
2009
7
A differential diagnosis of microcytic hypochromic anemia for high-risk patients. ( 19570166 )
2009
8
Red cell distribution width (RDW) in the diagnosis of iron deficiency with microcytic hypochromic anemia. ( 19205647 )
2009
9
Microcytic hypochromic anemia patients with thalassemia: genotyping approach. ( 19359777 )
2009
10
Hematopoietic-specific Stat5-null mice display microcytic hypochromic anemia associated with reduced transferrin receptor gene expression. ( 18552213 )
2008
11
Innovative parameters RET-Y, sTfR, and sTfR-F index in patients with microcytic, hypochromic anemia--their special value for hemoglobinopathies. ( 17573284 )
2007
12
Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice. ( 17003376 )
2007
13
A &amp;quot;hidden treasure&amp;quot; causing microcytic hypochromic anemia. ( 16377336 )
2006
14
Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India. ( 17132905 )
2006
15
alpha-globin gene deletion and point mutation analysis among in Iranian patients with microcytic hypochromic anemia. ( 14555321 )
2003
16
Microcytic hypochromic anemia in idiopathic pulmonary hemosiderosis: a diagnostic pitfall. ( 7883371 )
1994
17
Microcytic hypochromic anemia associated with renal cell carcinoma. ( 6719167 )
1984
18
Contribution of education to cost-effective care of microcytic, hypochromic anemia. ( 6427387 )
1984
19
Supplementary notes on anemia in pregnant women; on the origin and treatment of microcytic hypochromic anemia during toxemias in pregnancy. ( 13252298 )
1955
20
Lymphatic leukemia with a myeloid blood picture complicated by a severe microcytic hypochromic anemia in a dog. ( 21009464 )
1945

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 GRCh37 Chromosome 12, 51381955: 51381955
46 SLC11A2 NM_000617.2(SLC11A2): c.*153A> G single nucleotide variant Uncertain significance rs146016854 GRCh38 Chromosome 12, 50988172: 50988172
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

Search GEO for disease gene expression data for Anemia, Hypochromic Microcytic, with Iron Overload 1.

Pathways for Anemia, Hypochromic Microcytic, with Iron Overload 1

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

Sources for Anemia, Hypochromic Microcytic, with Iron Overload 1

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