AHMIO1
MCID: ANM035
MIFTS: 36

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 72 29 6 70
Ahmio1 57 72
Microcytic Anemia with Liver Iron Overload 58
Hypochromic Microcytic Anemia 72
Microcytic Hypochromic Anemia 70

Characteristics:

Orphanet epidemiological data:

58
microcytic anemia with liver iron overload
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
anemia, hypochromic microcytic, with iron overload 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

OMIM® 57 206100
OMIM Phenotypic Series 57 PS206100
MeSH 44 D000747
ICD10 via Orphanet 33 D50.8
UMLS via Orphanet 71 C2673913
Orphanet 58 ORPHA83642
SNOMED-CT via HPO 68 235856003 258211005
UMLS 70 C0271901 C3806153

Summaries for Anemia, Hypochromic Microcytic, with Iron Overload 1

UniProtKB/Swiss-Prot : 72 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). The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and spleen, and related phenotypes are abnormality of the liver and abnormality of metabolism/homeostasis

More information from OMIM: 206100 PS206100

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 38)
# Related Disease Score Top Affiliating Genes
1 hypochromic microcytic anemia 11.9
2 iron-refractory iron deficiency anemia 11.7
3 hypochromic microcytic anemia with iron overload 11.6
4 anemia, hypochromic microcytic, with iron overload 2 11.6
5 fetal hemoglobin quantitative trait locus 1 11.3
6 anemia, sideroblastic, 1 11.2
7 anemia, sideroblastic, and spinocerebellar ataxia 11.2
8 majeed syndrome 11.2
9 microcytic anemia 10.9
10 deficiency anemia 10.7
11 iron metabolism disease 10.6
12 thalassemia 10.5
13 iron deficiency anemia 10.4
14 hemosiderosis 10.4
15 protoporphyria, erythropoietic, 1 10.3
16 celiac disease 1 10.3
17 rare hereditary hemochromatosis 10.3
18 atransferrinemia 10.1
19 hydrocephalus, congenital, 1 10.1
20 alpha-thalassemia 10.1
21 beta-thalassemia 10.1
22 autosomal recessive disease 10.1
23 colorectal adenoma 10.1
24 nephrotic syndrome 10.1
25 pica disease 10.1
26 male infertility 10.1
27 bilirubin metabolic disorder 10.1
28 glomerulonephritis 10.1
29 purpura 10.1
30 systemic scleroderma 10.1
31 uremia 10.1
32 proliferative glomerulonephritis 10.1
33 infertility 10.1
34 hemolytic anemia 10.1
35 adenoma 10.1
36 evans' syndrome 10.1
37 sideroblastic anemia 10.1
38 splenomegaly 10.1

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

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

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the liver 31 HP:0001392
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 decreased mean corpuscular volume 31 HP:0025066
4 hypochromia 31 HP:0032231

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Heme:
anemia
hypochromia
microcytosis
marrow iron stores absent

Liver:
iron deposition

Lab:
serum iron high

Clinical features from OMIM®:

206100 (Updated 20-May-2021)

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

Drugs for Anemia, Hypochromic Microcytic, with Iron Overload 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved 7439-89-6 23925 29936

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Red Cell Distribution Width Index Versus Red Cell Distribution Width as Discriminating Guide for Iron Deficiency Anaemia and Beta Thalassemia Trait . Not yet recruiting NCT03868306

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

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

Genetic tests related to Anemia, Hypochromic Microcytic, with Iron Overload 1:

# Genetic test Affiliating Genes
1 Anemia, Hypochromic Microcytic, with Iron Overload 1 29 SLC11A2

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

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

40
Liver, Bone Marrow, Spleen, Bone, Brain, Heart, Lung

Publications for Anemia, Hypochromic Microcytic, with Iron Overload 1

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

(show top 50) (show all 296)
# Title Authors PMID Year
1
Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 61 57 6
16439678 2006
2
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). 6 57
16160008 2006
3
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 6 57
15459009 2005
4
Severe hypochromic microcytic anemia caused by a congenital defect of the iron transport pathway in erythroid cells. 57
15121718 2004
5
IRON DEFICIENCY ANEMIA ASSOCIATED WITH AN ERROR OF IRON METABOLISM IN TWO SIBLINGS. 57
14135503 1964
6
Small Intestinal Hemangioma: A Case Report. 61
33774648 2021
7
Regulatory Mutation Study in Cases with Unsolved Hypochromic Microcytic Anemia and α-Major Regulatory Element Haplotype Analysis in Iran. 61
33775199 2021
8
Positive Effect of Helicobacter pylori Treatment on Outcome of Patients With Chronic Spontaneous Urticaria. 61
32940336 2021
9
Differential diagnosis of thalassemia and iron deficiency anemia in pregnant women using new formulas from multidimensional analysis of red blood cells. 61
33569443 2021
10
[A case with α-thalassemia caused by novel start codon variant in conjunct with right deletion variant of α2-globin gene]. 61
33423249 2021
11
Diagnosis and management of iron deficiency in chronic inflammatory conditions (CIC): is too little iron making your patient sick? 61
33275757 2020
12
Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis. 61
33344595 2020
13
[Hematological Analysis and Diagnosis of Two Rare Abnormal Hemoglobin]. 61
33283737 2020
14
Analysis of rare thalassemia caused by HS-40 regulatory site deletion. 61
32720864 2020
15
Incidental Diagnosis of Adult Beta-Thalassemia With Point-of-Care Ultrasound in the Emergency Department: A Case Report. 61
33447492 2020
16
Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis. 61
32623341 2020
17
Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38. 61
32790119 2020
18
Role of Hematological Indices as a Screening Tool of Beta Thalassemia Trait in Eastern Uttar Pradesh: An Institutional Study. 61
33100716 2020
19
A Reliable Auto-Robust Analysis of Blood Smear Images for Classification of Microcytic Hypochromic Anemia Using Gray Level Matrices and Gabor Feature Bank. 61
33286809 2020
20
Hemoglobin variants in southern China: results obtained during the measurement of glycated hemoglobin in a large population. 61
32687481 2020
21
Laboratory approach to investigation of anemia with a focus on pyruvate kinase deficiency. 61
32543069 2020
22
Mothball ingestion as a manifestation of pica, leading to paradichlorobenzene CNS toxicity. 61
33163061 2020
23
Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature. 61
32341814 2020
24
Pretreatment thrombocytosis as an independent predictive factor for chemoresistance and poor survival in epithelial ovarian cancer. 61
32375852 2020
25
Nephrectomy Does not Exacerbate Cancellous Bone loss in Thalassemic Mice. 61
32385316 2020
26
Haplotype Analysis in Carriers of β-Globin Gene Mutation Facilitates Genetic Counseling in β-Thalassemia: A Cross-Sectional Study in Kerman Province, Iran. 61
32548060 2020
27
Clinico-Hematological Findings of Acute Pediatric Visceral Leishmaniasis Referred to the Northeast of Iran during 2005-2015. 61
32595711 2020
28
Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects. 61
32181284 2020
29
Pfeifer-Weber-Christian Disease: A Case Report and Review of Literature on Visceral Involvements and Treatment Choices. 61
32528225 2020
30
An Unusual Case of Hypoproteinemia in Childhood: Keep in Mind Trichobezoar. 61
32195212 2020
31
Dietary patterns and anemia morphology in young men and women in Shandong province, China. 61
32990611 2020
32
Host Genetics Background Influence in the Intragastric Trypanosoma cruzi Infection. 61
33329529 2020
33
Alpha-globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran. 61
31478238 2020
34
A Novel β-Thalassemia Mutation [IVS-I-6 (T>G), HBB: c.92+6T>G] in a Chinese Family. 61
31939318 2020
35
A case report of diffuse hyperplastic gastropathy with multiple polypoid formations in a patient with pernicious anemia, Helicobacter pylori infection, hypergastrinemia and hypoalbuminaemia: Do not forget of Ménétrier's disease. 61
33395833 2020
36
Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome. 61
32832171 2020
37
A Rare Case of Plummer-Vinson Syndrome. 61
32025392 2019
38
Evaluation of the curative effect of Balanites aegyptiaca fruits ethanolic extract on Haemonchosis experimentally induced in Egyptian Baladi goats: phytoanalytical, parasitological and hematological studies. 61
31749536 2019
39
Heme-regulated eIF2α kinase in erythropoiesis and hemoglobinopathies. 61
31554636 2019
40
[Phenotype Analysis of 78 Cases of Abnormal Hemoglobin E Homozygotes]. 61
31607315 2019
41
A 50-Year-Old Woman With Uterine Myomatosis, Rapidly Progressive Dyspnea, and Lower Extremity Edema. 61
31511163 2019
42
Presentation of Compound Heterozygous Hemoglobin Constant Spring and Hemoglobin Pakse in Neonates. 61
30615015 2019
43
Reticulocyte Hemoglobin Equivalent (Ret-He) Combined with Red Blood Cell Distribution Width Has a Differentially Diagnostic Value for Thalassemias. 61
31476929 2019
44
Clinical Case of Parvovirus B19 Infection in Pregnant Woman with Β-Thalassemia in Bulgaria. 61
31115230 2019
45
An Incidental Finding of Anemia: Rectal Adenocarcinoma in a Young Adult. 61
31275778 2019
46
Recognizing missed opportunities to diagnose and treat iron deficiency anemia: A study based on prevalence of anemia among children in a teaching hospital. 61
31041221 2019
47
Distinguishing iron deficiency anemia from thalassemia by the red blood cell lifespan with a simple CO breath test: a pilot study. 61
30641506 2019
48
Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. 61
30456712 2019
49
Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. 61
30632057 2019
50
Redundant and nonredundant organismal functions of EPS15 and EPS15L1. 61
30692166 2019

Variations for Anemia, Hypochromic Microcytic, with Iron Overload 1

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

6 (show top 50) (show all 94)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC11A2 SLC11A2, 3-BP DEL, 428GTG Deletion Pathogenic 9077 GRCh37:
GRCh38:
2 SLC11A2 NM_000617.3(SLC11A2):c.635G>T (p.Gly212Val) SNV Pathogenic 9078 rs121918367 GRCh37: 12:51392997-51392997
GRCh38: 12:50999214-50999214
3 SLC11A2 NM_000617.3(SLC11A2):c.1246C>T (p.Arg416Cys) SNV Pathogenic 9076 rs121918366 GRCh37: 12:51386074-51386074
GRCh38: 12:50992291-50992291
4 SLC11A2 NM_000617.3(SLC11A2):c.1231C>T (p.Arg411Ter) SNV Pathogenic 1031642 GRCh37: 12:51386089-51386089
GRCh38: 12:50992306-50992306
5 SLC11A2 NM_000617.3(SLC11A2):c.310-5_310-3del Microsatellite Pathogenic 9075 GRCh37: 12:51398693-51398695
GRCh38: 12:51004910-51004912
6 SLC11A2 NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg) SNV Likely pathogenic 800819 rs1592380743 GRCh37: 12:51399180-51399180
GRCh38: 12:51005397-51005397
7 SLC11A2 NM_000617.3(SLC11A2):c.*2332A>T SNV Uncertain significance 881136 GRCh37: 12:51379776-51379776
GRCh38: 12:50985993-50985993
8 SLC11A2 NM_000617.3(SLC11A2):c.*1444C>T SNV Uncertain significance 881180 GRCh37: 12:51380664-51380664
GRCh38: 12:50986881-50986881
9 SLC11A2 NM_000617.3(SLC11A2):c.*1367T>C SNV Uncertain significance 881181 GRCh37: 12:51380741-51380741
GRCh38: 12:50986958-50986958
10 SLC11A2 NM_000617.3(SLC11A2):c.*1360A>G SNV Uncertain significance 881182 GRCh37: 12:51380748-51380748
GRCh38: 12:50986965-50986965
11 SLC11A2 NM_000617.3(SLC11A2):c.*1058G>A SNV Uncertain significance 881183 GRCh37: 12:51381050-51381050
GRCh38: 12:50987267-50987267
12 SLC11A2 NM_000617.3(SLC11A2):c.*1057C>T SNV Uncertain significance 881184 GRCh37: 12:51381051-51381051
GRCh38: 12:50987268-50987268
13 SLC11A2 NM_000617.3(SLC11A2):c.1655C>T (p.Thr552Ile) SNV Uncertain significance 881232 GRCh37: 12:51382139-51382139
GRCh38: 12:50988356-50988356
14 SLC11A2 NM_000617.3(SLC11A2):c.1576-7C>G SNV Uncertain significance 881233 GRCh37: 12:51382225-51382225
GRCh38: 12:50988442-50988442
15 SLC11A2 NM_000617.3(SLC11A2):c.1511A>G (p.His504Arg) SNV Uncertain significance 881234 GRCh37: 12:51384642-51384642
GRCh38: 12:50990859-50990859
16 SLC11A2 NM_000617.3(SLC11A2):c.15T>C (p.Pro5=) SNV Uncertain significance 881288 GRCh37: 12:51404497-51404497
GRCh38: 12:51010714-51010714
17 SLC11A2 NM_000617.3(SLC11A2):c.-39+12G>A SNV Uncertain significance 881289 GRCh37: 12:51420081-51420081
GRCh38: 12:51026298-51026298
18 SLC11A2 NM_000617.3(SLC11A2):c.715G>A (p.Gly239Ser) SNV Uncertain significance 638450 rs1592344306 GRCh37: 12:51390716-51390716
GRCh38: 12:50996933-50996933
19 SLC11A2 NM_000617.3(SLC11A2):c.1049C>T (p.Ser350Leu) SNV Uncertain significance 881696 GRCh37: 12:51388355-51388355
GRCh38: 12:50994572-50994572
20 SLC11A2 NM_000617.3(SLC11A2):c.-96C>T SNV Uncertain significance 881740 GRCh37: 12:51420150-51420150
GRCh38: 12:51026367-51026367
21 SLC11A2 NM_001174125.2(SLC11A2):c.49+1791C>T SNV Uncertain significance 881741 GRCh37: 12:51420169-51420169
GRCh38: 12:51026386-51026386
22 SLC11A2 NM_000617.3(SLC11A2):c.*1795G>A SNV Uncertain significance 882758 GRCh37: 12:51380313-51380313
GRCh38: 12:50986530-50986530
23 SLC11A2 NM_000617.3(SLC11A2):c.*1739C>T SNV Uncertain significance 882759 GRCh37: 12:51380369-51380369
GRCh38: 12:50986586-50986586
24 SLC11A2 NM_000617.3(SLC11A2):c.*1615T>C SNV Uncertain significance 882760 GRCh37: 12:51380493-51380493
GRCh38: 12:50986710-50986710
25 SLC11A2 NM_000617.3(SLC11A2):c.1584A>G (p.Gln528=) SNV Uncertain significance 309306 rs761505350 GRCh37: 12:51382210-51382210
GRCh38: 12:50988427-50988427
26 SLC11A2 NM_000617.3(SLC11A2):c.1421+8T>A SNV Uncertain significance 309309 rs886049566 GRCh37: 12:51385374-51385374
GRCh38: 12:50991591-50991591
27 SLC11A2 NM_000617.3(SLC11A2):c.-50G>A SNV Uncertain significance 309326 rs886049570 GRCh37: 12:51420104-51420104
GRCh38: 12:51026321-51026321
28 SLC11A2 NM_000617.3(SLC11A2):c.*1466dup Duplication Uncertain significance 309286 rs561463670 GRCh37: 12:51380641-51380642
GRCh38: 12:50986858-50986859
29 SLC11A2 NM_000617.3(SLC11A2):c.*986C>A SNV Uncertain significance 309292 rs886049561 GRCh37: 12:51381122-51381122
GRCh38: 12:50987339-50987339
30 SLC11A2 NM_000617.3(SLC11A2):c.*415G>A SNV Uncertain significance 309298 rs765348165 GRCh37: 12:51381693-51381693
GRCh38: 12:50987910-50987910
31 SLC11A2 NM_000617.3(SLC11A2):c.921C>T (p.Ser307=) SNV Uncertain significance 309315 rs762100462 GRCh37: 12:51389481-51389481
GRCh38: 12:50995698-50995698
32 SLC11A2 NM_000617.3(SLC11A2):c.1663G>A (p.Ala555Thr) SNV Uncertain significance 309304 rs550969378 GRCh37: 12:51382131-51382131
GRCh38: 12:50988348-50988348
33 SLC11A2 NM_000617.3(SLC11A2):c.*2083_*2084del Deletion Uncertain significance 309278 rs886049557 GRCh37: 12:51380024-51380025
GRCh38: 12:50986241-50986242
34 SLC11A2 NM_000617.3(SLC11A2):c.436C>G (p.Arg146Gly) SNV Uncertain significance 309321 rs774857007 GRCh37: 12:51394196-51394196
GRCh38: 12:51000413-51000413
35 SLC11A2 NM_000617.3(SLC11A2):c.*11G>A SNV Uncertain significance 309303 rs201382454 GRCh37: 12:51382097-51382097
GRCh38: 12:50988314-50988314
36 SLC11A2 NM_000617.3(SLC11A2):c.*1559G>T SNV Uncertain significance 309284 rs777649881 GRCh37: 12:51380549-51380549
GRCh38: 12:50986766-50986766
37 SLC11A2 NM_000617.3(SLC11A2):c.-38-3C>T SNV Uncertain significance 309324 rs886049569 GRCh37: 12:51404552-51404552
GRCh38: 12:51010769-51010769
38 SLC11A2 NM_000617.3(SLC11A2):c.1197G>C (p.Glu399Asp) SNV Uncertain significance 9074 rs121918365 GRCh37: 12:51386593-51386593
GRCh38: 12:50992810-50992810
39 SLC11A2 NM_000617.3(SLC11A2):c.*1599C>T SNV Uncertain significance 309283 rs886049559 GRCh37: 12:51380509-51380509
GRCh38: 12:50986726-50986726
40 SLC11A2 NM_000617.3(SLC11A2):c.*2289G>T SNV Uncertain significance 309277 rs867212578 GRCh37: 12:51379819-51379819
GRCh38: 12:50986036-50986036
41 SLC11A2 NM_000617.3(SLC11A2):c.*1902C>G SNV Uncertain significance 309280 rs886049558 GRCh37: 12:51380206-51380206
GRCh38: 12:50986423-50986423
42 SLC11A2 NM_000617.3(SLC11A2):c.*420G>A SNV Uncertain significance 309297 rs886049564 GRCh37: 12:51381688-51381688
GRCh38: 12:50987905-50987905
43 SLC11A2 NM_001174125.2(SLC11A2):c.49+1746C>T SNV Uncertain significance 369019 rs886763852 GRCh37: 12:51420214-51420214
GRCh38: 12:51026431-51026431
44 SLC11A2 NM_000617.3(SLC11A2):c.*1752dup Duplication Uncertain significance 309282 rs755515112 GRCh37: 12:51380355-51380356
GRCh38: 12:50986572-50986573
45 SLC11A2 NM_000617.3(SLC11A2):c.*32A>G SNV Uncertain significance 309302 rs886049565 GRCh37: 12:51382076-51382076
GRCh38: 12:50988293-50988293
46 SLC11A2 NM_000617.3(SLC11A2):c.*1007A>G SNV Uncertain significance 309291 rs886049560 GRCh37: 12:51381101-51381101
GRCh38: 12:50987318-50987318
47 SLC11A2 NM_000617.3(SLC11A2):c.*970A>G SNV Uncertain significance 309294 rs886049563 GRCh37: 12:51381138-51381138
GRCh38: 12:50987355-50987355
48 SLC11A2 NM_000617.3(SLC11A2):c.1258A>G (p.Ile420Val) SNV Uncertain significance 309311 rs148582995 GRCh37: 12:51386062-51386062
GRCh38: 12:50992279-50992279
49 SLC11A2 NM_000617.3(SLC11A2):c.932A>G (p.Asn311Ser) SNV Uncertain significance 309314 rs769742722 GRCh37: 12:51389470-51389470
GRCh38: 12:50995687-50995687
50 SLC11A2 NM_000617.3(SLC11A2):c.504A>G (p.Ser168=) SNV Uncertain significance 309320 rs145155499 GRCh37: 12:51394128-51394128
GRCh38: 12:51000345-51000345

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

72
# 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

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

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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