Aliases & Classifications for Microcytic Anemia

MalaCards integrated aliases for Microcytic Anemia:

Name: Microcytic Anemia 12 29 54 6 15
Iron-Refractory Iron Deficiency Anemia 44 71

Classifications:



External Ids:

Disease Ontology 12 DOID:11252
MeSH 44 C562385
NCIt 50 C35141
SNOMED-CT 67 722005000
UMLS 71 C0085576

Summaries for Microcytic Anemia

MalaCards based summary : Microcytic Anemia, also known as iron-refractory iron deficiency anemia, is related to hypochromic microcytic anemia with iron overload and iron-refractory iron deficiency anemia. An important gene associated with Microcytic Anemia is TMPRSS6 (Transmembrane Serine Protease 6), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Glucose / Energy Metabolism. The drugs Sodium citrate and Iron have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, colon and kidney, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Microcytic anaemia is any of several types of anaemia characterized by small red blood cells (called... more...

Related Diseases for Microcytic Anemia

Diseases related to Microcytic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 hypochromic microcytic anemia with iron overload 33.3 STEAP3 SLC11A2
2 iron-refractory iron deficiency anemia 32.7 TMPRSS6 EPO ATP6AP1
3 atransferrinemia 32.2 TMPRSS6 TFRC TF SLC11A2 HEPH
4 hypochromic microcytic anemia 32.1 TMPRSS6 TFRC TF STEAP3 SLC11A2 LPIN2
5 anemia, sideroblastic, and spinocerebellar ataxia 32.1 GLRX5 ALAS2 ACO1
6 anemia, sideroblastic, 1 31.7 TFRC STEAP3 SLC11A2 IREB2 GLRX5 ALAS2
7 hemosiderosis 31.1 TF SLC11A2 EPO
8 iron metabolism disease 31.0 TMPRSS6 TFRC TF SLC11A2 IREB2 HEPH
9 iron deficiency anemia 30.8 TMPRSS6 TFRC TF SLC11A2 HEPH HBA1
10 thalassemia minor 30.8 HBA2 EPO
11 deficiency anemia 30.8 TMPRSS6 TFRC TF STEAP3 SLC11A2 IREB2
12 alpha-thalassemia 30.7 TFRC HBA2 HBA1 G6PD EPO
13 sideroblastic anemia 30.6 IREB2 GLRX5 ALAS2 ACO1
14 protoporphyria, erythropoietic, 1 30.6 TFRC IREB2 GLRX5 ALAS2 ACO1
15 polycythemia 30.5 TFRC HBA2 EPO
16 beta-thalassemia 30.5 TMPRSS6 TFRC TF IREB2 HBA2 HBA1
17 splenomegaly 30.5 HBA2 HBA1 EPO
18 hemolytic anemia 30.4 TFRC TF HBA2 HBA1 G6PD EPO
19 hemochromatosis type 2 30.3 TMPRSS6 TFRC STEAP3 SLC11A2 IREB2 HEPH
20 hemoglobinopathy 30.1 TFRC TF HBA2 HBA1 G6PD EPO
21 aceruloplasminemia 30.0 TMPRSS6 TFRC STEAP3 SLC11A2 IREB2 HEPH
22 hemochromatosis, type 1 29.6 TMPRSS6 TFRC TF STEAP3 SLC11A2 IREB2
23 proteasome-associated autoinflammatory syndrome 1 11.7
24 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 11.6
25 anemia, hypochromic microcytic, with iron overload 2 11.4
26 anemia, hypochromic microcytic, with iron overload 1 11.3
27 3-methylglutaconic aciduria, type v 11.3
28 fetal hemoglobin quantitative trait locus 1 11.2
29 sialuria 11.2
30 triokinase and fmn cyclase deficiency syndrome 11.2
31 leukoencephalopathy, progressive, infantile-onset, with or without deafness 11.1
32 5-oxoprolinase deficiency 11.0
33 majeed syndrome 11.0
34 infantile liver failure syndrome 1 11.0
35 infantile liver failure syndrome 11.0
36 macrocytic anemia 11.0
37 thalassemia 10.7
38 rare hereditary hemochromatosis 10.4
39 hemochromatosis, type 3 10.4 TMPRSS6 TFRC SLC11A2
40 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.4 HBA2 HBA1
41 glutathione peroxidase deficiency 10.4 HBA2 HBA1
42 spastic paraplegia 38, autosomal dominant 10.4 TFRC IREB2 ACO1
43 immune hydrops fetalis 10.4 HBA2 HBA1
44 neurodegeneration with brain iron accumulation 3 10.4 SLC11A2 IREB2 ACO1
45 iron overload in africa 10.4 TF HEPH
46 alpha thalassemia-intellectual disability syndrome type 1 10.3 HBA2 HBA1
47 folic acid deficiency anemia 10.3 TFRC EPO
48 erythrocytosis, familial, 7 10.3 HBA2 HBA1
49 porphyria 10.3 TFRC EPO ALAS2
50 lumbosacral lipoma 10.3 G6PD EPO

Graphical network of the top 20 diseases related to Microcytic Anemia:



Diseases related to Microcytic Anemia

Symptoms & Phenotypes for Microcytic Anemia

GenomeRNAi Phenotypes related to Microcytic Anemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.96 TFRC TMPRSS6
2 Decreased viability GR00249-S 9.96 ALAS2 G6PD PSMB8 SLC11A2 TMPRSS6
3 Decreased viability GR00381-A-1 9.96 PSMB8 TKFC TMPRSS6
4 Decreased viability GR00386-A-1 9.96 ACO1 EPO G6PD IREB2 TF
5 Decreased viability GR00402-S-2 9.96 G6PD LARS1 SLC11A2 TF TFRC
6 Increased the percentage of infected cells GR00402-S-1 8.32 IREB2

MGI Mouse Phenotypes related to Microcytic Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.21 ALAS2 EPO G6PD HBA2 HEPH IREB2
2 homeostasis/metabolism MP:0005376 10.2 ACO1 ALAS2 EPO G6PD HBA2 HEPH
3 cardiovascular system MP:0005385 10.13 EPO G6PD HEPH IREB2 LPIN2 SLC11A2
4 embryo MP:0005380 10.06 ALAS2 ATP6AP1 EPO G6PD HEPH LPIN2
5 immune system MP:0005387 10 EPO HEPH IREB2 LPIN2 PSMB8 SLC11A2
6 integument MP:0010771 9.85 ALAS2 EPO HBA2 HEPH IREB2 SLC11A2
7 liver/biliary system MP:0005370 9.61 EPO HEPH IREB2 LPIN2 SLC11A2 ST14
8 mortality/aging MP:0010768 9.47 ACO1 ALAS2 ATP6AP1 EPO G6PD HBA2

Drugs & Therapeutics for Microcytic Anemia

Drugs for Microcytic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 2 68-04-2
2
Iron Approved Phase 2 7439-89-6 23925 29936
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
4 Citrate Phase 2
5 Iron Supplement Phase 2
6 Calcium, Dietary Phase 2
7 Anticoagulants Phase 2
8 Chelating Agents Phase 2
9 Pharmaceutical Solutions Phase 2
10
Calcium Nutraceutical Phase 2 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triferic (Ferric Pyrophosphate Citrate) Administered Orally With Shohl's Solution for the Treatment of Iron-Refractory Iron-Deficiency Anemia Terminated NCT02905981 Phase 2 Fer-In-Sol;Shohl's solution;Triferic
2 Pharmacokinetics and Absolute Bioavailability of Fer-In-Sol (Ferrous Sulfate) and Triferic (Ferric Pyrophosphate Citrate) Administered Orally With Shohl's Solution in Healthy Volunteers Completed NCT02767128 Phase 1 Triferic;Fer-In-Sol;Shohl's solution
3 Efficacy of >Your< Iron Syrup Supplementation in Children With Iron Deficiency With or Without Mild Microcytic Anemia - a Double-Blind, Placebo-Controlled Multicentric Clinical Study Completed NCT04713943

Search NIH Clinical Center for Microcytic Anemia

Cochrane evidence based reviews: iron-refractory iron deficiency anemia

Genetic Tests for Microcytic Anemia

Genetic tests related to Microcytic Anemia:

# Genetic test Affiliating Genes
1 Microcytic Anemia 29 TMPRSS6

Anatomical Context for Microcytic Anemia

MalaCards organs/tissues related to Microcytic Anemia:

40
Bone Marrow, Colon, Kidney, Lymph Node, Brain, Small Intestine, Bone

Publications for Microcytic Anemia

Articles related to Microcytic Anemia:

(show top 50) (show all 956)
# Title Authors PMID Year
1
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. 61 6
19592582 2009
2
Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. 6 61
19357398 2009
3
Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. 61 6
18596229 2008
4
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). 61 6
18408718 2008
5
Not all DMT1 mutations lead to iron overload. 54 61
19553145 2009
6
Exosome secretion, including the DNA damage-induced p53-dependent secretory pathway, is severely compromised in TSAP6/Steap3-null mice. 54 61
18617898 2008
7
A novel beta-Thalassemic allele due to a two nucleotide deletion: beta76 (-GC). 54 61
17365003 2007
8
Belgrade rats display liver iron loading. 54 61
17116712 2006
9
A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload. 54 61
16584902 2006
10
Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 61 54
16439678 2006
11
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). 54 61
16160008 2006
12
Functional characterization of the E399D DMT1/NRAMP2/SLC11A2 protein produced by an exon 12 mutation in a patient with microcytic anemia and iron overload. 54 61
16023393 2005
13
Carboxyl-terminus determinants of the iron transporter DMT1/SLC11A2 isoform II (-IRE/1B) mediate internalization from the plasma membrane into recycling endosomes. 54 61
16142913 2005
14
Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2. 61 54
15831703 2005
15
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 61 54
15459009 2005
16
G6PD/PK ratio: a reliable parameter to identify glucose-6-phosphate dehydrogenase deficiency associated with microcytic anemia in heterozygous subjects. 54 61
15369716 2004
17
[Conventional and new laboratory parameters in the evaluation of hematologic disease]. 54 61
15018392 2004
18
Anemia with erythropoietin deficiency occurs early in diabetic nephropathy. 61 54
11289474 2001
19
Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron. 54 61
10361139 1999
20
The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. 61 54
9642100 1998
21
Defective iron supply for erythropoiesis and adequate endogenous erythropoietin production in the anemia associated with systemic-onset juvenile chronic arthritis. 61 54
8639855 1996
22
The molecular basis of the sideroblastic anemias. 61 54
9372069 1996
23
Intervention of standardized ethanol leaf extract of Annickia polycarpa, (DC.) Setten and Maas ex I.M. Turner. (Annonaceae), in Plasmodium berghei infested mice produced anti-malaria action and normalized gross hematological indices. 61
33129949 2021
24
Movement Disorders and Dementia in a Woman With Chronic Aluminium Toxicity: Video-MRI Imaging. 61
33598364 2021
25
A clinical calculator for predicting intraoperative blood loss and transfusion risk in spine tumor patients. 61
33007469 2021
26
Hb Athens-Georgia (beta 40(C6) Arg > Lys, HBB:c.122G > A) with a single α-globin gene (Hb H disease) in a Thai family: molecular, hematological, and diagnostic aspects. 61
33287582 2021
27
Anemia in tuberculosis cases: A biomarker of severity? 61
33529195 2021
28
Microcytic Anemia. 61
33386305 2021
29
[Clinical Features of Pregnant Women with Thalassemia in Non Endemic Area]. 61
33283736 2020
30
Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations. 61
33300650 2020
31
Inherited microcytic anemias. 61
33275715 2020
32
[Iron deficiency in adults : to understand what biological evaluation should be carried out]. 61
33331703 2020
33
Heterozygosity for the Novel HBA2: c.*91_*92delTA Polyadenylation Site Variant on the α2-Globin Gene Expanding the Genetic Spectrum of α-Thalassemia in Iran. 61
33054440 2020
34
The toxicology of gallium oxide in comparison with gallium arsenide and indium oxide. 61
32565349 2020
35
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. 61
32699352 2020
36
Verification of 20 Mathematical Formulas for Discriminating Between Iron Deficiency Anemia and Thalassemia Trait in Microcytic Anemia. 61
32539140 2020
37
Aceruloplasminemia: A Case Report and Review of a Rare and Misunderstood Disorder of Iron Accumulation. 61
33376659 2020
38
Role of RDW in mathematical formulas aiding the differential diagnosis of microcytic anemia. 61
32530320 2020
39
Application of HbA2 levels and red cell indices-based new model in the differentiation of thalassemia traits from iron deficiency in hypochromic microcytic anemia Cases. 61
32564505 2020
40
Oral Contraceptive Disturbed the Recovery of the Adrenal Function after Adrenalectomy in Cushing Syndrome: A Case Report. 61
33055479 2020
41
Coenzyme Q10 nullified khat-induced hepatotoxicity, nephrotoxicity and inflammation in a mouse model. 61
32984611 2020
42
Unusual Presentation of Renal Medullary Carcinoma With Undiagnosed Sickle Cell Trait. 61
33145136 2020
43
Hematological and immunological responses in the African catfish Clarias gairepinus exposed to sublethal concentrations of herbicide Ronstar®. 61
32544747 2020
44
Discriminant indexes to simplify the differential diagnosis between iron deficiency anemia and thalassemia minor in individuals with microcytic anemia. 61
33027458 2020
45
Bone morphogenic proteins in iron homeostasis. 61
32585319 2020
46
Hepcidin, an overview of biochemical and clinical properties. 61
32450084 2020
47
The ectodomain of matriptase-2 plays an important nonproteolytic role in suppressing hepcidin expression in mice. 61
32384154 2020
48
Bone pain, splenomegaly and microcytic anemia in a young woman. 61
32622515 2020
49
Clinical Appropriateness of Serum Folate ordering pattern in a tertiary care hospital in Saudi Arabia. 61
32792834 2020
50
Mild Thalassemia Intermedia Due to Interaction of δβ-Thalassemia with Triplicated α-Globin Genes. 61
32693657 2020

Variations for Microcytic Anemia

ClinVar genetic disease variations for Microcytic Anemia:

6 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMPRSS6 NM_001374504.1(TMPRSS6):c.336+2T>G SNV Pathogenic 917402 22:37494454-37494454 22:37098414-37098414
2 TMPRSS6 NM_001374504.1(TMPRSS6):c.1310_1315del (p.Arg437_Val438del) Deletion Pathogenic 917403 22:37471202-37471207 22:37075162-37075167
3 TMPRSS6 NM_153609.3(TMPRSS6):c.2161C>T (p.Gln721Ter) SNV Pathogenic 627580 rs775869554 22:37462982-37462982 22:37066942-37066942
4 TMPRSS6 NM_153609.3(TMPRSS6):c.234C>G (p.Tyr78Ter) SNV Pathogenic 617552 rs1569024289 22:37494585-37494585 22:37098545-37098545
5 TMPRSS6 NM_153609.3(TMPRSS6):c.1179T>G (p.Tyr393Ter) SNV Pathogenic 1407 rs137853122 22:37480379-37480379 22:37084339-37084339
6 TMPRSS6 NM_153609.3(TMPRSS6):c.1382del (p.Glu461fs) Deletion Pathogenic 1406 rs1384933966 22:37470736-37470736 22:37074696-37074696
7 TMPRSS6 NM_153609.3(TMPRSS6):c.1065C>A (p.Tyr355Ter) SNV Pathogenic 1405 rs137853121 22:37480815-37480815 22:37084775-37084775
8 TMPRSS6 NM_153609.3(TMPRSS6):c.1324G>A (p.Gly442Arg) SNV Pathogenic 1403 rs137853119 22:37471220-37471220 22:37075180-37075180
9 TMPRSS6 NM_153609.3(TMPRSS6):c.2140+1G>C SNV Pathogenic 1402 rs786205059 22:37465112-37465112 22:37069072-37069072
10 TMPRSS6 NM_153609.3(TMPRSS6):c.1582+1G>A SNV Pathogenic 1401 rs786205058 22:37469571-37469571 22:37073531-37073531
11 TMPRSS6 NM_153609.3(TMPRSS6):c.1813del (p.Ala605fs) Deletion Pathogenic 1400 rs767094129 22:37466579-37466579 22:37070539-37070539
12 TMPRSS6 NM_153609.3(TMPRSS6):c.1904_1905dup (p.Lys636fs) Duplication Pathogenic 1399 rs869320724 22:37465347-37465348 22:37069307-37069308
13 ATP6AP1 GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Pathogenic 523295 X:153138672-153665655
14 TMPRSS6 NM_153609.3(TMPRSS6):c.1564G>A (p.Glu522Lys) SNV Pathogenic 30802 rs387907018 22:37469590-37469590 22:37073550-37073550
15 TMPRSS6 NM_153609.3(TMPRSS6):c.353C>A (p.Ala118Asp) SNV Pathogenic 1410 rs267607121 22:37494466-37494466 22:37098426-37098426
16 TMPRSS6 NM_153609.3(TMPRSS6):c.2055_2058dup (p.Val687fs) Duplication Pathogenic 1409 rs786205060 22:37465194-37465195 22:37069154-37069155
17 TMPRSS6 NM_153609.3(TMPRSS6):c.1795C>T (p.Arg599Ter) SNV Pathogenic/Likely pathogenic 1408 rs137853123 22:37466597-37466597 22:37070557-37070557
18 TMPRSS6 NM_153609.3(TMPRSS6):c.1561G>A (p.Asp521Asn) SNV Likely pathogenic 1404 rs137853120 22:37469593-37469593 22:37073553-37073553
19 TMPRSS6 NM_001374504.1(TMPRSS6):c.549G>A (p.Arg183=) SNV Uncertain significance 903166 22:37491986-37491986 22:37095946-37095946
20 TMPRSS6 NM_001374504.1(TMPRSS6):c.648C>A (p.Ser216Arg) SNV Uncertain significance 903165 22:37485806-37485806 22:37089766-37089766
21 TMPRSS6 NM_001374504.1(TMPRSS6):c.656G>A (p.Gly219Asp) SNV Uncertain significance 903164 22:37485798-37485798 22:37089758-37089758
22 TMPRSS6 NM_001374504.1(TMPRSS6):c.1633C>T (p.Arg545Trp) SNV Uncertain significance 903104 22:37466995-37466995 22:37070955-37070955
23 TMPRSS6 NM_153609.3(TMPRSS6):c.1789C>T (p.Arg597Trp) SNV Uncertain significance 631894 rs773272073 22:37466603-37466603 22:37070563-37070563
24 TMPRSS6 NM_153609.3(TMPRSS6):c.984_985insGGAGACC (p.Pro329fs) Insertion Uncertain significance 631895 rs1569012596 22:37482338-37482339 22:37086298-37086299
25 TMPRSS6 NM_153609.3(TMPRSS6):c.*35T>C SNV Uncertain significance 341576 rs199957731 22:37462085-37462085 22:37066045-37066045
26 TMPRSS6 NM_001374504.1(TMPRSS6):c.1687G>A (p.Gly563Ser) SNV Uncertain significance 903101 22:37466678-37466678 22:37070638-37070638
27 TMPRSS6 NM_001374504.1(TMPRSS6):c.*212T>A SNV Uncertain significance 903049 22:37461908-37461908 22:37065868-37065868
28 TMPRSS6 NM_001374504.1(TMPRSS6):c.*251T>A SNV Uncertain significance 903048 22:37461869-37461869 22:37065829-37065829
29 TMPRSS6 NM_153609.3(TMPRSS6):c.616+9T>C SNV Uncertain significance 341598 rs377665035 22:37491937-37491937 22:37095897-37095897
30 TMPRSS6 NM_153609.3(TMPRSS6):c.170T>A (p.Phe57Tyr) SNV Uncertain significance 341604 rs745388319 22:37499315-37499315 22:37103275-37103275
31 TMPRSS6 NM_153609.3(TMPRSS6):c.478G>A (p.Glu160Lys) SNV Uncertain significance 341601 rs752163489 22:37492084-37492084 22:37096044-37096044
32 TMPRSS6 NM_153609.3(TMPRSS6):c.*303T>G SNV Uncertain significance 341573 rs886057490 22:37461817-37461817 22:37065777-37065777
33 TMPRSS6 NM_153609.3(TMPRSS6):c.865G>T (p.Val289Leu) SNV Uncertain significance 341594 rs201148397 22:37482458-37482458 22:37086418-37086418
34 TMPRSS6 NM_153609.3(TMPRSS6):c.1224-4C>G SNV Uncertain significance 341589 rs529716198 22:37471324-37471324 22:37075284-37075284
35 TMPRSS6 NM_153609.3(TMPRSS6):c.720C>T (p.His240=) SNV Uncertain significance 341596 rs769301726 22:37485761-37485761 22:37089721-37089721
36 TMPRSS6 NM_001374504.1(TMPRSS6):c.2374G>A (p.Gly792Ser) SNV Uncertain significance 899429 22:37462155-37462155 22:37066115-37066115
37 TMPRSS6 NM_001374504.1(TMPRSS6):c.*24G>A SNV Uncertain significance 899428 22:37462096-37462096 22:37066056-37066056
38 TMPRSS6 NM_153609.3(TMPRSS6):c.1233C>T (p.Gly411=) SNV Uncertain significance 341588 rs146266448 22:37471311-37471311 22:37075271-37075271
39 TMPRSS6 NM_001374504.1(TMPRSS6):c.1651G>A (p.Gly551Ser) SNV Uncertain significance 903102 22:37466977-37466977 22:37070937-37070937
40 TMPRSS6 NM_001374504.1(TMPRSS6):c.530C>T (p.Ser177Leu) SNV Uncertain significance 899544 22:37492005-37492005 22:37095965-37095965
41 TMPRSS6 NM_001374504.1(TMPRSS6):c.1355A>G (p.Glu452Gly) SNV Uncertain significance 899478 22:37470736-37470736 22:37074696-37074696
42 TMPRSS6 NM_001374504.1(TMPRSS6):c.1440C>T (p.Cys480=) SNV Uncertain significance 899477 22:37470651-37470651 22:37074611-37074611
43 TMPRSS6 NM_001374504.1(TMPRSS6):c.2250+15C>T SNV Uncertain significance 899430 22:37462851-37462851 22:37066811-37066811
44 TMPRSS6 NM_001374504.1(TMPRSS6):c.-1-218C>G SNV Uncertain significance 902365 22:37499676-37499676 22:37103636-37103636
45 TMPRSS6 NM_001374504.1(TMPRSS6):c.124C>T (p.Leu42Phe) SNV Uncertain significance 902364 22:37499334-37499334 22:37103294-37103294
46 TMPRSS6 NM_001374504.1(TMPRSS6):c.752G>T (p.Arg251Leu) SNV Uncertain significance 902296 22:37485702-37485702 22:37089662-37089662
47 TMPRSS6 NM_001374504.1(TMPRSS6):c.780G>A (p.Arg260=) SNV Uncertain significance 902295 22:37485674-37485674 22:37089634-37089634
48 TMPRSS6 NM_001374504.1(TMPRSS6):c.865G>A (p.Val289Met) SNV Uncertain significance 902294 22:37482431-37482431 22:37086391-37086391
49 TMPRSS6 NM_001374504.1(TMPRSS6):c.928T>C (p.Tyr310His) SNV Uncertain significance 902293 22:37482368-37482368 22:37086328-37086328
50 TMPRSS6 NM_001374504.1(TMPRSS6):c.1851C>T (p.Ser617=) SNV Uncertain significance 902221 22:37465375-37465375 22:37069335-37069335

Expression for Microcytic Anemia

Search GEO for disease gene expression data for Microcytic Anemia.

Pathways for Microcytic Anemia

Pathways related to Microcytic Anemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 TFRC TF STEAP3 SLC11A2 PSMB8 HEPH
2 12.22 SLC11A2 IREB2 G6PD ACO1
3
Show member pathways
12.08 TFRC TF STEAP3 SLC11A2 HEPH ATP6AP1
4 11.62 TFRC TF EPO
5 11.31 TFRC TF EPO
6 11.2 TF SLC11A2 HEPH
7 10.87 TFRC TF STEAP3 SLC11A2
8 10.18 TFRC TF STEAP3 SLC11A2 IREB2 ACO1

GO Terms for Microcytic Anemia

Cellular components related to Microcytic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.81 TKFC TFRC TF PSMB8 HBA2 HBA1
2 recycling endosome GO:0055037 9.63 TFRC TF SLC11A2
3 endocytic vesicle lumen GO:0071682 9.43 HBA2 HBA1
4 basal part of cell GO:0045178 9.4 TF SLC11A2
5 hemoglobin complex GO:0005833 9.37 HBA2 HBA1
6 haptoglobin-hemoglobin complex GO:0031838 9.32 HBA2 HBA1
7 HFE-transferrin receptor complex GO:1990712 9.26 TFRC TF
8 blood microparticle GO:0072562 9.26 TFRC TF HBA2 HBA1
9 endosome membrane GO:0010008 9.02 TFRC TF STEAP3 SLC11A2 ATP6AP1

Biological processes related to Microcytic Anemia according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.96 TF STEAP3 SLC11A2 HEPH ATP6AP1
2 heme biosynthetic process GO:0006783 9.57 SLC11A2 ALAS2
3 transferrin transport GO:0033572 9.56 TFRC TF STEAP3 ATP6AP1
4 erythrocyte development GO:0048821 9.55 SLC11A2 ALAS2
5 iron ion transport GO:0006826 9.55 TFRC TF SLC11A2 IREB2 HEPH
6 oxygen transport GO:0015671 9.54 HBA2 HBA1
7 osteoclast differentiation GO:0030316 9.54 TFRC TF IREB2
8 copper ion transport GO:0006825 9.52 SLC11A2 HEPH
9 intestinal absorption GO:0050892 9.51 IREB2 ACO1
10 positive regulation of bone resorption GO:0045780 9.5 TFRC TF ATP6AP1
11 erythrocyte maturation GO:0043249 9.49 G6PD EPO
12 protoporphyrinogen IX biosynthetic process GO:0006782 9.48 IREB2 ALAS2
13 hemoglobin biosynthetic process GO:0042541 9.46 EPO ALAS2
14 porphyrin-containing compound metabolic process GO:0006778 9.43 SLC11A2 ALAS2
15 iron ion homeostasis GO:0055072 9.43 TMPRSS6 TF STEAP3 SLC11A2 IREB2 HEPH
16 citrate metabolic process GO:0006101 9.4 IREB2 ACO1
17 cellular iron ion homeostasis GO:0006879 9.28 TMPRSS6 TFRC TF SLC11A2 IREB2 HEPH

Molecular functions related to Microcytic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.35 TMPRSS6 TKFC TFRC TF STEAP3 ST14
2 oxygen carrier activity GO:0005344 9.4 HBA2 HBA1
3 iron-sulfur cluster binding GO:0051536 9.33 IREB2 GLRX5 ACO1
4 organic acid binding GO:0043177 9.32 HBA2 HBA1
5 haptoglobin binding GO:0031720 9.26 HBA2 HBA1
6 aconitate hydratase activity GO:0003994 8.96 IREB2 ACO1
7 iron-responsive element binding GO:0030350 8.62 IREB2 ACO1

Sources for Microcytic Anemia

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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