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 70

Classifications:



External Ids:

Disease Ontology 12 DOID:11252
MeSH 44 C562385
SNOMED-CT 67 722005000
UMLS 70 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 Glucose / Energy Metabolism and Insulin receptor recycling. The drugs Sodium citrate and Iron have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and kidney, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 73 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 160)
# Related Disease Score Top Affiliating Genes
1 hypochromic microcytic anemia with iron overload 33.3 STEAP3 SLC11A2
2 iron-refractory iron deficiency anemia 32.6 TMPRSS6 EPO
3 anemia, sideroblastic, and spinocerebellar ataxia 31.9 GLRX5 ALAS2 ACO1
4 atransferrinemia 31.6 TMPRSS6 TFRC TF SLC11A2 HEPH HAMP
5 thalassemia 31.3 HBA2 HBA1 G6PD
6 hypochromic microcytic anemia 31.1 TMPRSS6 TFRC TF STEAP3 SLC11A2 LPIN2
7 anemia, sideroblastic, 1 30.9 TMPRSS6 TFRC STEAP3 SLC11A2 IREB2 HAMP
8 rare hereditary hemochromatosis 30.8 TF HAMP
9 thalassemia minor 30.5 HBA2 EPO
10 hemosiderosis 30.5 TF SLC11A2 HAMP EPO
11 protoporphyria, erythropoietic, 1 30.3 TFRC IREB2 GLRX5 ALAS2 ACO1
12 splenomegaly 30.1 HBA2 HBA1 EPO
13 sideroblastic anemia 30.1 IREB2 HAMP GLRX5 ALAS2 ACO1
14 polycythemia 30.0 TFRC HBA2 HAMP EPO
15 iron metabolism disease 30.0 TMPRSS6 TFRC TF SLC11A2 IREB2 HEPH
16 iron deficiency anemia 29.9 TMPRSS6 TFRC TF SLC11A2 HEPH HBA1
17 alpha-thalassemia 29.8 TFRC HBA2 HBA1 HAMP G6PD EPO
18 hemolytic anemia 29.8 TFRC TF HBA2 HBA1 G6PD EPO
19 hemochromatosis type 2 29.7 TMPRSS6 TFRC SLC11A2 IREB2 HEPH HAMP
20 deficiency anemia 29.5 TMPRSS6 TFRC TF STEAP3 SLC11A2 IREB2
21 beta-thalassemia 29.4 TMPRSS6 TFRC TF IREB2 HBA2 HBA1
22 aceruloplasminemia 29.4 TMPRSS6 TFRC STEAP3 SLC11A2 IREB2 HEPH
23 hemoglobinopathy 29.1 TFRC TF HBA2 HBA1 HAMP G6PD
24 hemochromatosis, type 1 28.7 TMPRSS6 TFRC TF STEAP3 SLC11A2 IREB2
25 proteasome-associated autoinflammatory syndrome 1 11.7
26 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 11.6
27 anemia, hypochromic microcytic, with iron overload 2 11.4
28 anemia, hypochromic microcytic, with iron overload 1 11.3
29 3-methylglutaconic aciduria, type v 11.3
30 fetal hemoglobin quantitative trait locus 1 11.2
31 sialuria 11.2
32 triokinase and fmn cyclase deficiency syndrome 11.2
33 leukoencephalopathy, progressive, infantile-onset, with or without deafness 11.1
34 5-oxoprolinase deficiency 11.0
35 majeed syndrome 11.0
36 infantile liver failure syndrome 1 11.0
37 infantile liver failure syndrome 11.0
38 macrocytic anemia 11.0
39 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.3 HBA2 HBA1
40 neurodegeneration with brain iron accumulation 3 10.3 SLC11A2 IREB2 ACO1
41 spastic paraplegia 38, autosomal dominant 10.2 TFRC IREB2 ACO1
42 glutathione peroxidase deficiency 10.2 HBA2 HBA1
43 alpha thalassemia-intellectual disability syndrome type 1 10.2 HBA2 HBA1
44 immune hydrops fetalis 10.2 HBA2 HBA1
45 erythrocytosis, familial, 7 10.2 HBA2 HBA1
46 hypoglycemic coma 10.2 HBA2 HBA1
47 type 1 diabetes mellitus 24 10.2 HBA2 HBA1
48 methemoglobinemia, beta-globin type 10.2 HBA2 HBA1
49 lumbosacral lipoma 10.2 G6PD EPO
50 rh isoimmunization 10.2 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 9.98 TFRC TMPRSS6
2 Decreased viability GR00249-S 9.98 ALAS2 G6PD PSMB8 SLC11A2 TMPRSS6
3 Decreased viability GR00381-A-1 9.98 PSMB8 TKFC TMPRSS6
4 Decreased viability GR00386-A-1 9.98 ACO1 EPO G6PD IREB2 TF
5 Decreased viability GR00402-S-2 9.98 G6PD HAMP 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 10.1 EPO G6PD HEPH IREB2 LPIN2 SLC11A2
4 immune system MP:0005387 10 EPO HEPH IREB2 LPIN2 PSMB8 SLC11A2
5 integument MP:0010771 9.85 ALAS2 EPO HBA2 HEPH IREB2 SLC11A2
6 liver/biliary system MP:0005370 9.61 EPO HEPH IREB2 LPIN2 SLC11A2 ST14
7 mortality/aging MP:0010768 9.44 ACO1 ALAS2 EPO G6PD HBA2 IREB2

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 Anticoagulants Phase 2
5 Pharmaceutical Solutions Phase 2
6 Chelating Agents Phase 2
7 Citrate Phase 2
8 Iron Supplement Phase 2
9 Calcium, Dietary 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

Anatomical Context for Microcytic Anemia

MalaCards organs/tissues related to Microcytic Anemia:

40
Liver, Bone, Kidney, Brain, Bone Marrow, Colon, Lymph Node

Publications for Microcytic Anemia

Articles related to Microcytic Anemia:

(show top 50) (show all 964)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
Not all DMT1 mutations lead to iron overload. 61 54
19553145 2009
3
Exosome secretion, including the DNA damage-induced p53-dependent secretory pathway, is severely compromised in TSAP6/Steap3-null mice. 61 54
18617898 2008
4
A novel beta-Thalassemic allele due to a two nucleotide deletion: beta76 (-GC). 54 61
17365003 2007
5
Belgrade rats display liver iron loading. 54 61
17116712 2006
6
A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload. 61 54
16584902 2006
7
Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 61 54
16439678 2006
8
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). 54 61
16160008 2006
9
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
10
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
11
Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2. 61 54
15831703 2005
12
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 54 61
15459009 2005
13
G6PD/PK ratio: a reliable parameter to identify glucose-6-phosphate dehydrogenase deficiency associated with microcytic anemia in heterozygous subjects. 61 54
15369716 2004
14
[Conventional and new laboratory parameters in the evaluation of hematologic disease]. 54 61
15018392 2004
15
Anemia with erythropoietin deficiency occurs early in diabetic nephropathy. 54 61
11289474 2001
16
Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron. 61 54
10361139 1999
17
The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. 61 54
9642100 1998
18
Defective iron supply for erythropoiesis and adequate endogenous erythropoietin production in the anemia associated with systemic-onset juvenile chronic arthritis. 61 54
8639855 1996
19
The molecular basis of the sideroblastic anemias. 54 61
9372069 1996
20
Oral Contraceptive Disturbed the Recovery of the Adrenal Function after Adrenalectomy in Cushing Syndrome. 61
33055479 2021
21
Anemia in Ugandan pregnant women: a cross-sectional, systematic review and meta-analysis study. 61
33648575 2021
22
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
23
The value of the red cell distribution width index versus other parameters in the differentiation between iron deficiency anemia and beta thalassemia trait among children in Mosul, Iraq. 61
33736549 2021
24
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 2021
25
The Consequence of Excessive Consumption of Cow's Milk: Protein-Losing Enteropathy with Anasarca in the Course of Iron Deficiency Anemia-Case Reports and a Literature Review. 61
33802302 2021
26
Unexpected Cause of Persistent Microcytosis and Neurological Symptoms in a Child: Niemann-Pick Disease Type C. 61
33661177 2021
27
Regulatory Mutation Study in Cases with Unsolved Hypochromic Microcytic Anemia and α-Major Regulatory Element Haplotype Analysis in Iran. 61
33775199 2021
28
Genetic analysis of TMPRSS6 gene in Saudi female patients with iron deficiency anemia. 61
32446932 2021
29
A clinical calculator for predicting intraoperative blood loss and transfusion risk in spine tumor patients. 61
33007469 2021
30
Scurvy, Starvation, and Flea Infestation - A Case Report From 21st Century Europe. 61
33728161 2021
31
Movement Disorders and Dementia in a Woman With Chronic Aluminium Toxicity: Video-MRI Imaging. 61
33598364 2021
32
Major Thalassemia, Screening or Treatment: An Economic Evaluation Study in Iran. 61
33619933 2021
33
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
34
Anemia in tuberculosis cases: A biomarker of severity? 61
33529195 2021
35
Microcytic Anemia. 61
33386305 2021
36
[Clinical Features of Pregnant Women with Thalassemia in Non Endemic Area]. 61
33283736 2020
37
Inherited microcytic anemias. 61
33275715 2020
38
[Iron deficiency in adults : to understand what biological evaluation should be carried out]. 61
33331703 2020
39
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
40
The toxicology of gallium oxide in comparison with gallium arsenide and indium oxide. 61
32565349 2020
41
Verification of 20 Mathematical Formulas for Discriminating Between Iron Deficiency Anemia and Thalassemia Trait in Microcytic Anemia. 61
32539140 2020
42
Aceruloplasminemia: A Case Report and Review of a Rare and Misunderstood Disorder of Iron Accumulation. 61
33376659 2020
43
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. 61
32699352 2020
44
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
45
Role of RDW in mathematical formulas aiding the differential diagnosis of microcytic anemia. 61
32530320 2020
46
Discriminant indexes to simplify the differential diagnosis between iron deficiency anemia and thalassemia minor in individuals with microcytic anemia. 61
33027458 2020
47
Bone morphogenic proteins in iron homeostasis. 61
32585319 2020
48
Unusual Presentation of Renal Medullary Carcinoma With Undiagnosed Sickle Cell Trait. 61
33145136 2020
49
Coenzyme Q10 nullified khat-induced hepatotoxicity, nephrotoxicity and inflammation in a mouse model. 61
32984611 2020
50
Hematological and immunological responses in the African catfish Clarias gairepinus exposed to sublethal concentrations of herbicide Ronstar®. 61
32544747 2020

Variations for Microcytic Anemia

ClinVar genetic disease variations for Microcytic Anemia:

6 (show top 50) (show all 109)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 21 genes GRCh37/hg19 Xq28(chrX:153138672-153665655) copy number gain Pathogenic 523295 GRCh37: X:153138672-153665655
GRCh38:
2 TMPRSS6 NM_153609.3(TMPRSS6):c.234C>G (p.Tyr78Ter) SNV Pathogenic 617552 rs1569024289 GRCh37: 22:37494585-37494585
GRCh38: 22:37098545-37098545
3 TMPRSS6 NM_153609.3(TMPRSS6):c.2161C>T (p.Gln721Ter) SNV Pathogenic 627580 rs775869554 GRCh37: 22:37462982-37462982
GRCh38: 22:37066942-37066942
4 TMPRSS6 NM_001374504.1(TMPRSS6):c.336+2T>G SNV Pathogenic 917402 GRCh37: 22:37494454-37494454
GRCh38: 22:37098414-37098414
5 TMPRSS6 NM_001374504.1(TMPRSS6):c.1310_1315del (p.Arg437_Val438del) Deletion Pathogenic 917403 GRCh37: 22:37471202-37471207
GRCh38: 22:37075162-37075167
6 TMPRSS6 NM_001374504.1(TMPRSS6):c.571G>T (p.Glu191Ter) SNV Pathogenic 1030291 GRCh37: 22:37491964-37491964
GRCh38: 22:37095924-37095924
7 TMPRSS6 NM_153609.3(TMPRSS6):c.1561G>A (p.Asp521Asn) SNV Likely pathogenic 1404 rs137853120 GRCh37: 22:37469593-37469593
GRCh38: 22:37073553-37073553
8 TMPRSS6 NM_153609.3(TMPRSS6):c.1795C>T (p.Arg599Ter) SNV Likely pathogenic 1408 rs137853123 GRCh37: 22:37466597-37466597
GRCh38: 22:37070557-37070557
9 TMPRSS6 NM_001374504.1(TMPRSS6):c.827T>G (p.Leu276Arg) SNV Uncertain significance 1030292 GRCh37: 22:37485627-37485627
GRCh38: 22:37089587-37089587
10 TMPRSS6 NM_001374504.1(TMPRSS6):c.1085C>T (p.Thr362Met) SNV Uncertain significance 1030290 GRCh37: 22:37480768-37480768
GRCh38: 22:37084728-37084728
11 TMPRSS6 NM_001374504.1(TMPRSS6):c.1633C>T (p.Arg545Trp) SNV Uncertain significance 903104 GRCh37: 22:37466995-37466995
GRCh38: 22:37070955-37070955
12 TMPRSS6 NM_001374504.1(TMPRSS6):c.656G>A (p.Gly219Asp) SNV Uncertain significance 903164 GRCh37: 22:37485798-37485798
GRCh38: 22:37089758-37089758
13 TMPRSS6 NM_001374504.1(TMPRSS6):c.648C>A (p.Ser216Arg) SNV Uncertain significance 903165 GRCh37: 22:37485806-37485806
GRCh38: 22:37089766-37089766
14 TMPRSS6 NM_001374504.1(TMPRSS6):c.549G>A (p.Arg183=) SNV Uncertain significance 903166 GRCh37: 22:37491986-37491986
GRCh38: 22:37095946-37095946
15 TMPRSS6 NM_001374504.1(TMPRSS6):c.2014T>C (p.Ser672Pro) SNV Uncertain significance 902218 GRCh37: 22:37465212-37465212
GRCh38: 22:37069172-37069172
16 TMPRSS6 NM_001374504.1(TMPRSS6):c.2004G>A (p.Pro668=) SNV Uncertain significance 902219 GRCh37: 22:37465222-37465222
GRCh38: 22:37069182-37069182
17 TMPRSS6 NM_001374504.1(TMPRSS6):c.1999C>T (p.His667Tyr) SNV Uncertain significance 902220 GRCh37: 22:37465227-37465227
GRCh38: 22:37069187-37069187
18 TMPRSS6 NM_001374504.1(TMPRSS6):c.1851C>T (p.Ser617=) SNV Uncertain significance 902221 GRCh37: 22:37465375-37465375
GRCh38: 22:37069335-37069335
19 TMPRSS6 NM_001374504.1(TMPRSS6):c.928T>C (p.Tyr310His) SNV Uncertain significance 902293 GRCh37: 22:37482368-37482368
GRCh38: 22:37086328-37086328
20 TMPRSS6 NM_001374504.1(TMPRSS6):c.865G>A (p.Val289Met) SNV Uncertain significance 902294 GRCh37: 22:37482431-37482431
GRCh38: 22:37086391-37086391
21 TMPRSS6 NM_001374504.1(TMPRSS6):c.780G>A (p.Arg260=) SNV Uncertain significance 902295 GRCh37: 22:37485674-37485674
GRCh38: 22:37089634-37089634
22 TMPRSS6 NM_001374504.1(TMPRSS6):c.752G>T (p.Arg251Leu) SNV Uncertain significance 902296 GRCh37: 22:37485702-37485702
GRCh38: 22:37089662-37089662
23 TMPRSS6 NM_001374504.1(TMPRSS6):c.124C>T (p.Leu42Phe) SNV Uncertain significance 902364 GRCh37: 22:37499334-37499334
GRCh38: 22:37103294-37103294
24 TMPRSS6 NM_001374504.1(TMPRSS6):c.-1-218C>G SNV Uncertain significance 902365 GRCh37: 22:37499676-37499676
GRCh38: 22:37103636-37103636
25 TMPRSS6 NM_001374504.1(TMPRSS6):c.*251T>A SNV Uncertain significance 903048 GRCh37: 22:37461869-37461869
GRCh38: 22:37065829-37065829
26 TMPRSS6 NM_001374504.1(TMPRSS6):c.*212T>A SNV Uncertain significance 903049 GRCh37: 22:37461908-37461908
GRCh38: 22:37065868-37065868
27 TMPRSS6 NM_001374504.1(TMPRSS6):c.1687G>A (p.Gly563Ser) SNV Uncertain significance 903101 GRCh37: 22:37466678-37466678
GRCh38: 22:37070638-37070638
28 TMPRSS6 NM_001374504.1(TMPRSS6):c.1651G>A (p.Gly551Ser) SNV Uncertain significance 903102 GRCh37: 22:37466977-37466977
GRCh38: 22:37070937-37070937
29 TMPRSS6 NM_153609.3(TMPRSS6):c.1789C>T (p.Arg597Trp) SNV Uncertain significance 631894 rs773272073 GRCh37: 22:37466603-37466603
GRCh38: 22:37070563-37070563
30 TMPRSS6 NM_153609.3(TMPRSS6):c.984_985insGGAGACC (p.Pro329fs) Insertion Uncertain significance 631895 rs1569012596 GRCh37: 22:37482338-37482339
GRCh38: 22:37086298-37086299
31 TMPRSS6 NM_153609.3(TMPRSS6):c.720C>T (p.His240=) SNV Uncertain significance 341596 rs769301726 GRCh37: 22:37485761-37485761
GRCh38: 22:37089721-37089721
32 TMPRSS6 NM_153609.3(TMPRSS6):c.478G>A (p.Glu160Lys) SNV Uncertain significance 341601 rs752163489 GRCh37: 22:37492084-37492084
GRCh38: 22:37096044-37096044
33 TMPRSS6 NM_153609.3(TMPRSS6):c.*303T>G SNV Uncertain significance 341573 rs886057490 GRCh37: 22:37461817-37461817
GRCh38: 22:37065777-37065777
34 TMPRSS6 NM_153609.3(TMPRSS6):c.865G>T (p.Val289Leu) SNV Uncertain significance 341594 rs201148397 GRCh37: 22:37482458-37482458
GRCh38: 22:37086418-37086418
35 TMPRSS6 NM_153609.3(TMPRSS6):c.1224-4C>G SNV Uncertain significance 341589 rs529716198 GRCh37: 22:37471324-37471324
GRCh38: 22:37075284-37075284
36 TMPRSS6 NM_153609.3(TMPRSS6):c.*35T>C SNV Uncertain significance 341576 rs199957731 GRCh37: 22:37462085-37462085
GRCh38: 22:37066045-37066045
37 TMPRSS6 NM_153609.3(TMPRSS6):c.1520C>T (p.Pro507Leu) SNV Uncertain significance 341584 rs138915369 GRCh37: 22:37469634-37469634
GRCh38: 22:37073594-37073594
38 TMPRSS6 NM_001374504.1(TMPRSS6):c.*24G>A SNV Uncertain significance 899428 GRCh37: 22:37462096-37462096
GRCh38: 22:37066056-37066056
39 TMPRSS6 NM_001374504.1(TMPRSS6):c.2374G>A (p.Gly792Ser) SNV Uncertain significance 899429 GRCh37: 22:37462155-37462155
GRCh38: 22:37066115-37066115
40 TMPRSS6 NM_001374504.1(TMPRSS6):c.2250+15C>T SNV Uncertain significance 899430 GRCh37: 22:37462851-37462851
GRCh38: 22:37066811-37066811
41 TMPRSS6 NM_001374504.1(TMPRSS6):c.1440C>T (p.Cys480=) SNV Uncertain significance 899477 GRCh37: 22:37470651-37470651
GRCh38: 22:37074611-37074611
42 TMPRSS6 NM_001374504.1(TMPRSS6):c.1355A>G (p.Glu452Gly) SNV Uncertain significance 899478 GRCh37: 22:37470736-37470736
GRCh38: 22:37074696-37074696
43 TMPRSS6 NM_001374504.1(TMPRSS6):c.530C>T (p.Ser177Leu) SNV Uncertain significance 899544 GRCh37: 22:37492005-37492005
GRCh38: 22:37095965-37095965
44 TMPRSS6 NM_001374504.1(TMPRSS6):c.334A>G (p.Met112Val) SNV Uncertain significance 899548 GRCh37: 22:37494458-37494458
GRCh38: 22:37098418-37098418
45 TMPRSS6 NM_001374504.1(TMPRSS6):c.2250+7C>A SNV Uncertain significance 900548 GRCh37: 22:37462859-37462859
GRCh38: 22:37066819-37066819
46 TMPRSS6 NM_001374504.1(TMPRSS6):c.2204G>A (p.Arg735His) SNV Uncertain significance 900549 GRCh37: 22:37462912-37462912
GRCh38: 22:37066872-37066872
47 TMPRSS6 NM_001374504.1(TMPRSS6):c.1309C>G (p.Arg437Gly) SNV Uncertain significance 900613 GRCh37: 22:37471208-37471208
GRCh38: 22:37075168-37075168
48 TMPRSS6 NM_001374504.1(TMPRSS6):c.1086G>A (p.Thr362=) SNV Uncertain significance 900614 GRCh37: 22:37480767-37480767
GRCh38: 22:37084727-37084727
49 TMPRSS6 NM_001374504.1(TMPRSS6):c.287G>A (p.Arg96His) SNV Uncertain significance 900681 GRCh37: 22:37494505-37494505
GRCh38: 22:37098465-37098465
50 TMPRSS6 NM_001374504.1(TMPRSS6):c.251G>C (p.Arg84Pro) SNV Uncertain significance 900682 GRCh37: 22:37494541-37494541
GRCh38: 22:37098501-37098501

Expression for Microcytic Anemia

Search GEO for disease gene expression data for Microcytic Anemia.

Pathways for Microcytic Anemia

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 10.06 TKFC TFRC TF PSMB8 HBA2 HBA1
2 extracellular space GO:0005615 9.86 TMPRSS6 TFRC TF ST14 HBA2 HBA1
3 endosome membrane GO:0010008 9.67 TFRC TF STEAP3 SLC11A2
4 endocytic vesicle lumen GO:0071682 9.43 HBA2 HBA1
5 basal part of cell GO:0045178 9.4 TF SLC11A2
6 hemoglobin complex GO:0005833 9.32 HBA2 HBA1
7 haptoglobin-hemoglobin complex GO:0031838 9.16 HBA2 HBA1
8 HFE-transferrin receptor complex GO:1990712 8.96 TFRC TF
9 blood microparticle GO:0072562 8.92 TFRC TF HBA2 HBA1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 heme biosynthetic process GO:0006783 9.58 SLC11A2 ALAS2
2 response to vitamin A GO:0033189 9.58 HAMP EPO
3 erythrocyte development GO:0048821 9.57 SLC11A2 ALAS2
4 positive regulation of bone resorption GO:0045780 9.56 TFRC TF
5 response to iron ion GO:0010039 9.55 SLC11A2 HAMP
6 iron ion transport GO:0006826 9.55 TFRC TF SLC11A2 IREB2 HEPH
7 oxygen transport GO:0015671 9.54 HBA2 HBA1
8 copper ion transport GO:0006825 9.52 SLC11A2 HEPH
9 intestinal absorption GO:0050892 9.51 IREB2 ACO1
10 transferrin transport GO:0033572 9.5 TFRC TF STEAP3
11 iron ion homeostasis GO:0055072 9.5 TMPRSS6 TF STEAP3 SLC11A2 IREB2 HEPH
12 erythrocyte maturation GO:0043249 9.49 G6PD EPO
13 protoporphyrinogen IX biosynthetic process GO:0006782 9.48 IREB2 ALAS2
14 multicellular organismal iron ion homeostasis GO:0060586 9.46 SLC11A2 HAMP
15 hemoglobin biosynthetic process GO:0042541 9.43 EPO ALAS2
16 osteoclast differentiation GO:0030316 9.43 TFRC TF IREB2
17 porphyrin-containing compound metabolic process GO:0006778 9.4 SLC11A2 ALAS2
18 citrate metabolic process GO:0006101 9.37 IREB2 ACO1
19 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 oxygen carrier activity GO:0005344 9.37 HBA2 HBA1
2 iron-sulfur cluster binding GO:0051536 9.33 IREB2 GLRX5 ACO1
3 organic acid binding GO:0043177 9.32 HBA2 HBA1
4 haptoglobin binding GO:0031720 9.26 HBA2 HBA1
5 aconitate hydratase activity GO:0003994 8.96 IREB2 ACO1
6 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....