MCID: MCR018
MIFTS: 47

Microcytic Anemia

Categories: Blood diseases
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Aliases & Classifications for Microcytic Anemia

MalaCards integrated aliases for Microcytic Anemia:

Name: Microcytic Anemia 11 28 53 5 14 75
Iron-Refractory Iron Deficiency Anemia 43 71

Classifications:



External Ids:

Disease Ontology 11 DOID:11252
MeSH 43 C562385
SNOMED-CT 68 722005000
UMLS 71 C0085576

Summaries for Microcytic Anemia

MalaCards based summary: Microcytic Anemia, also known as iron-refractory iron deficiency anemia, is related to iron-refractory iron deficiency anemia and atransferrinemia. An important gene associated with Microcytic Anemia is TMPRSS6 (Transmembrane Serine Protease 6), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Glucose / Energy Metabolism. The drugs Iron and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, lymph node and liver, and related phenotypes are homeostasis/metabolism and nervous system

Wikipedia: 75 Microcytic anaemia is any of several types of anemia characterized by smaller than normal red blood... 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 205)
# Related Disease Score Top Affiliating Genes
1 iron-refractory iron deficiency anemia 32.7 TMPRSS6 HJV
2 atransferrinemia 31.6 TMPRSS6 TFRC TF SLC40A1 SLC11A2 HJV
3 hypochromic microcytic anemia 31.3 TMPRSS6 TFRC TF SLC40A1 SLC11A2 LPIN2
4 anemia, sideroblastic, 1 30.9 TMPRSS6 TFRC SLC40A1 SLC11A2 IREB2 HJV
5 thalassemia minor 30.7 HBA2 HAMP EPO
6 alpha-thalassemia 30.6 TMPRSS6 TFRC HBA2 HAMP G6PD EPO
7 protoporphyria, erythropoietic, 1 30.5 IREB2 ALAS2 ACO1
8 thalassemia 30.4 TMPRSS6 TFRC TF SLC40A1 HJV HBA2
9 iron overload 30.3 TF SLC40A1 SLC11A2 HJV HAMP ALAS2
10 sickle cell disease 30.1 HBA2 G6PD EPO
11 polycythemia 30.1 TFRC HBA2 HAMP EPO CRP
12 anemia, autoimmune hemolytic 30.1 G6PD EPO CRP
13 glucosephosphate dehydrogenase deficiency 30.1 HBA2 G6PD CRP
14 vitamin b12 deficiency 30.1 HAMP EPO CRP
15 sideroblastic anemia 30.0 TFRC SLC40A1 HJV HAMP ALAS2 ACO1
16 hemolytic anemia 30.0 TMPRSS6 TFRC TF HBA2 HAMP G6PD
17 iron metabolism disease 29.9 TMPRSS6 TFRC TF SLC40A1 SLC11A2 IREB2
18 beta-thalassemia 29.8 TMPRSS6 TFRC TF IREB2 HJV HBA2
19 deficiency anemia 29.8 TMPRSS6 TFRC TF SLC40A1 SLC11A2 IREB2
20 hemosiderosis 29.8 TFRC TF SLC40A1 SLC11A2 HJV HAMP
21 beta-thalassemia major 29.7 TMPRSS6 TFRC SLC40A1 SLC11A2 HJV HBA2
22 hemochromatosis type 2 29.7 TMPRSS6 TFRC SLC40A1 SLC11A2 IREB2 HJV
23 sickle cell anemia 29.6 TFRC HBA2 HAMP G6PD EPO CRP
24 hemoglobinopathy 29.6 TMPRSS6 TFRC TF HBA2 HAMP G6PD
25 iron deficiency anemia 29.5 TMPRSS6 TFRC TF SLC40A1 SLC11A2 IREB2
26 aceruloplasminemia 29.5 TMPRSS6 TFRC SLC40A1 SLC11A2 IREB2 HJV
27 hemochromatosis, type 1 28.4 TMPRSS6 TFRC TF SLC40A1 SLC11A2 IREB2
28 anemia, hypochromic microcytic, with iron overload 1 11.9
29 proteasome-associated autoinflammatory syndrome 1 11.7
30 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 11.6
31 sialuria 11.3
32 3-methylglutaconic aciduria, type v 11.3
33 fetal hemoglobin quantitative trait locus 1 11.2
34 leukoencephalopathy, progressive, infantile-onset, with or without deafness 11.2
35 triokinase and fmn cyclase deficiency syndrome 11.2
36 immunodeficiency 89 and autoimmunity 11.2
37 anemia, hypochromic microcytic, with iron overload 2 11.2
38 anemia, sideroblastic, 2, pyridoxine-refractory 11.1
39 majeed syndrome 11.1
40 infantile liver failure syndrome 1 11.1
41 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.1
42 anemia, sideroblastic, 5 11.1
43 infantile liver failure syndrome 11.1
44 macrocytic anemia 11.1
45 srd5a3-congenital disorder of glycosylation 11.1
46 hemoglobin lepore-beta-thalassemia syndrome 11.1
47 refractory anemia 10.4
48 rh isoimmunization 10.3 G6PD EPO
49 autosomal dominant secondary polycythemia 10.3 HBA2 EPO
50 castleman disease 10.3

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.13 ACO1 ALAS2 CARD10 CRP EPO G6PD
2 no effect GR00402-S-2 10.13 ACO1 ALAS2 CARD10 CRP EPO HBA2

MGI Mouse Phenotypes related to Microcytic Anemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.27 ACO1 ALAS2 CRP EPO G6PD HAMP
2 nervous system MP:0003631 10.17 CARD10 G6PD HEPH HJV IREB2 LPIN2
3 liver/biliary system MP:0005370 10.1 EPO HAMP HEPH HJV IREB2 LPIN2
4 cardiovascular system MP:0005385 10.1 CRP EPO G6PD HEPH HJV IREB2
5 immune system MP:0005387 10.07 CRP EPO G6PD HAMP HEPH HJV
6 hematopoietic system MP:0005397 10.06 ACO1 ALAS2 EPO G6PD HAMP HBA2
7 mortality/aging MP:0010768 9.86 ACO1 ALAS2 CARD10 EPO G6PD HAMP
8 integument MP:0010771 9.32 ALAS2 HBA2 HEPH HJV IREB2 SLC11A2

Drugs & Therapeutics for Microcytic Anemia

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2 7439-89-6 29936
2
Sodium citrate Approved, Investigational Phase 2 68-04-2 23431961
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
4 Iron Supplement Phase 2
5 Calcium, Dietary Phase 2
6 Anticoagulants Phase 2
7 Pharmaceutical Solutions Phase 2
8 Citrate Phase 2
9 Chelating Agents Phase 2
10 Chrysarobin Phase 2
11
Calcium Nutraceutical Phase 2 7440-70-2 271
12
Mecobalamin Approved, Investigational 13422-55-4
13
Hydroxocobalamin Approved 13422-51-0 15589840 44475014
14
Ascorbic acid Approved, Nutraceutical 50-81-7 54676860 54670067 5785
15
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
16
Cyanocobalamin Approved, Nutraceutical 68-19-9 24892734 16212801 44176380
17
Cobalamin Experimental 13408-78-1 6857388
18 Vitamins
19 Vitamin B6
20 Trace Elements
21 Vitamin B12
22 Vitamin B Complex
23 Vitamin B 6
24 Vitamin B 12
25 Micronutrients
26
Pyridoxal Experimental, Nutraceutical 66-72-8 1050

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
4 A Study of Efficacy and Safety of Three Different Oral Iron-Containing Dietary Supplements in Correction of Hematological Indices and Replenishment of Depleted Iron Stores in Iron Deficient Adults With or Without Mild Microcytic Anemia Recruiting NCT05185024

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 28

Anatomical Context for Microcytic Anemia

Organs/tissues related to Microcytic Anemia:

MalaCards : Bone Marrow, Lymph Node, Liver, Small Intestine, Bone, Colon, Spinal Cord

Publications for Microcytic Anemia

Articles related to Microcytic Anemia:

(show top 50) (show all 966)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
2
Not all DMT1 mutations lead to iron overload. 53 62
19553145 2009
3
Exosome secretion, including the DNA damage-induced p53-dependent secretory pathway, is severely compromised in TSAP6/Steap3-null mice. 53 62
18617898 2008
4
A novel beta-Thalassemic allele due to a two nucleotide deletion: beta76 (-GC). 53 62
17365003 2007
5
Belgrade rats display liver iron loading. 53 62
17116712 2006
6
Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 53 62
16439678 2006
7
A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload. 53 62
16584902 2006
8
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). 53 62
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. 53 62
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. 53 62
16142913 2005
11
Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2. 53 62
15831703 2005
12
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 53 62
15459009 2005
13
G6PD/PK ratio: a reliable parameter to identify glucose-6-phosphate dehydrogenase deficiency associated with microcytic anemia in heterozygous subjects. 53 62
15369716 2004
14
[Conventional and new laboratory parameters in the evaluation of hematologic disease]. 53 62
15018392 2004
15
Anemia with erythropoietin deficiency occurs early in diabetic nephropathy. 53 62
11289474 2001
16
Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron. 53 62
10361139 1999
17
The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. 53 62
9642100 1998
18
Defective iron supply for erythropoiesis and adequate endogenous erythropoietin production in the anemia associated with systemic-onset juvenile chronic arthritis. 53 62
8639855 1996
19
The molecular basis of the sideroblastic anemias. 53 62
9372069 1996
20
Risk factors and prognostic significance of anemia in children with HIV infection on antiretroviral therapy. 62
36052537 2022
21
Aluminum overload in the reverse osmosis dialysis era: does it exist? 62
36190833 2022
22
Cerebral Venous Sinus Thrombosis in a Patient With Alcohol Withdrawal Symptoms: A Case Report and Literature Review. 62
36449713 2022
23
Performance analysis of machine learning algorithms and screening formulae for β-thalassemia trait screening of Indian antenatal women. 62
36174416 2022
24
Double trouble: A case of fraternal twins with iron-refractory iron-deficiency anemia. 62
36254154 2022
25
Diagnostic dilemma of celiac disease presenting with weight loss and secondary amenorrhea: A case report. 62
36281172 2022
26
Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant. 62
36308763 2022
27
Successful control of intestinal bleeding from metastasis of pulmonary pleomorphic carcinoma with pembrolizumab: A case report. 62
36281091 2022
28
The Special Supplemental Nutrition Program for Women, Infants, and Children food package revisions and anemia in children aged 2-5 years. 62
36055958 2022
29
A 7-Year-Old With Persistent Fever and Cough. 62
36017677 2022
30
Stroke propensity in the Th3+/ mouse model of β-thalassemia intermedia. 62
35753626 2022
31
Anemia in Celiac Disease: Prevalence, Associated Clinical and Laboratory Features, and Persistence after Gluten-Free Diet. 62
36294721 2022
32
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay. 62
35611801 2022
33
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. 62
35332675 2022
34
Xanthogranulomatous pyelonephritis in a pediatric patient. 62
33877258 2022
35
Dilemma of identifying congenital hemolytic anemias in primary care. 62
35486866 2022
36
Noniron deficiency microcytic anemia, dysmorphic features, and intellectual disability: Diagnostic clues for α-thalassemia/mental retardation associated with chromosome 16 syndrome. 62
35246371 2022
37
New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation. 62
35457224 2022
38
Familial Adenomatous Polyposis (FAP) Presenting as Iron Deficiency Anemia in a 33-Year-Old Female: A Case Report. 62
35651449 2022
39
The Evaluation of Results of Twenty Common Equations for Differentiation of Beta Thalassemia Trait from Iron Deficiency Anemia: A Cross-Sectional Study. 62
35936522 2022
40
Differentiation between Anemia of Chronic Disease and Iron Deficiency Anemia Using Newer Erythrocyte Parameters. 62
35443539 2022
41
Diagnostic Workup of Microcytic Anemia. 62
35472855 2022
42
Nutritional imbalances in a Mexican vegan group: urgent need for country-specific dietary guidelines. 62
35012322 2022
43
Clinical spectrum of Celiac Disease in adults at a tertiary care hospital in Karachi, Pakistan. 62
35480550 2022
44
Alpha- and Beta-thalassemia: Rapid Evidence Review. 62
35289581 2022
45
The Role of Ferric Nitrilotriacetate in Renal Carcinogenesis and Cell Death: From Animal Models to Clinical Implications. 62
35326646 2022
46
Microcytic Anemia: An Insidious Presentation of Sickle Cell Beta+ Thalassemia, a Rare Sickle Cell Variant. 62
35449671 2022
47
Assessment of serum endocan levels in patients with beta-thalassemia minor. 62
35239873 2022
48
36-year-old male with X-linked congenital sideroblastic anemia presenting as chronic microcytic anemia with iron overload. 62
34783180 2022
49
Anemia of inflammation in patients with colorectal cancer: Correlation with interleukin-1, interleukin-33 and galectin-1. 62
35611243 2022
50
Systemic argyria with severe anemia (hemoglobin 2.4 g/L). 62
35518817 2022

Variations for Microcytic Anemia

ClinVar genetic disease variations for Microcytic Anemia:

5 (show top 50) (show all 108)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMPRSS6 NM_001374504.1(TMPRSS6):c.2134C>T (p.Gln712Ter) SNV Pathogenic
627580 rs775869554 GRCh37: 22:37462982-37462982
GRCh38: 22:37066942-37066942
2 TMPRSS6 NM_001374504.1(TMPRSS6):c.336+2T>G SNV Pathogenic
917402 rs1930010425 GRCh37: 22:37494454-37494454
GRCh38: 22:37098414-37098414
3 TMPRSS6 NM_001374504.1(TMPRSS6):c.1310_1315del (p.Arg437_Val438del) DEL Pathogenic
917403 rs1927509977 GRCh37: 22:37471202-37471207
GRCh38: 22:37075162-37075167
4 TMPRSS6 NM_001374504.1(TMPRSS6):c.207C>G (p.Tyr69Ter) SNV Pathogenic
617552 rs1569024289 GRCh37: 22:37494585-37494585
GRCh38: 22:37098545-37098545
5 overlap with 21 genes GRCh37/hg19 Xq28(chrX:153138672-153665655) CN GAIN Pathogenic
523295 GRCh37: X:153138672-153665655
GRCh38:
6 TMPRSS6 NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn) SNV Likely Pathogenic
1404 rs137853120 GRCh37: 22:37469593-37469593
GRCh38: 22:37073553-37073553
7 TMPRSS6 NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter) SNV Likely Pathogenic
1408 rs137853123 GRCh37: 22:37466597-37466597
GRCh38: 22:37070557-37070557
8 TMPRSS6 NM_001374504.1(TMPRSS6):c.1338G>A (p.Ser446=) SNV Uncertain Significance
341587 rs776737568 GRCh37: 22:37471179-37471179
GRCh38: 22:37075139-37075139
9 TMPRSS6 NM_001374504.1(TMPRSS6):c.632-8C>T SNV Uncertain Significance
341597 rs375234781 GRCh37: 22:37485830-37485830
GRCh38: 22:37089790-37089790
10 TMPRSS6 NM_001374504.1(TMPRSS6):c.*499C>T SNV Uncertain Significance
341572 rs560949530 GRCh37: 22:37461621-37461621
GRCh38: 22:37065581-37065581
11 TMPRSS6 NM_001374504.1(TMPRSS6):c.1069T>C (p.Cys357Arg) SNV Uncertain Significance
341590 rs886057492 GRCh37: 22:37480784-37480784
GRCh38: 22:37084744-37084744
12 TMPRSS6 NM_001374504.1(TMPRSS6):c.127C>T (p.Arg43Cys) SNV Uncertain Significance
341605 rs750274321 GRCh37: 22:37499331-37499331
GRCh38: 22:37103291-37103291
13 TMPRSS6 NM_001374504.1(TMPRSS6):c.411A>G (p.Gly137=) SNV Uncertain Significance
341602 rs375681801 GRCh37: 22:37492124-37492124
GRCh38: 22:37096084-37096084
14 TMPRSS6 NM_001374504.1(TMPRSS6):c.*140C>T SNV Uncertain Significance
341574 rs886057491 GRCh37: 22:37461980-37461980
GRCh38: 22:37065940-37065940
15 TMPRSS6 NM_001374504.1(TMPRSS6):c.973+11del DEL Uncertain Significance
341592 rs780218999 GRCh37: 22:37482312-37482312
GRCh38: 22:37086272-37086272
16 TMPRSS6 NM_001374504.1(TMPRSS6):c.2058C>G (p.Phe686Leu) SNV Uncertain Significance
341581 rs375189210 GRCh37: 22:37465168-37465168
GRCh38: 22:37069128-37069128
17 TMPRSS6 NM_001374504.1(TMPRSS6):c.243C>A (p.Gly81=) SNV Uncertain Significance
341603 rs147397866 GRCh37: 22:37494549-37494549
GRCh38: 22:37098509-37098509
18 TMPRSS6 NM_001374504.1(TMPRSS6):c.1762C>T (p.Arg588Trp) SNV Uncertain Significance
631894 rs773272073 GRCh37: 22:37466603-37466603
GRCh38: 22:37070563-37070563
19 TMPRSS6 NM_001374504.1(TMPRSS6):c.957_958insGGAGACC (p.Pro320fs) INSERT Uncertain Significance
631895 rs1569012596 GRCh37: 22:37482338-37482339
GRCh38: 22:37086298-37086299
20 TMPRSS6 NM_001374504.1(TMPRSS6):c.*24G>A SNV Uncertain Significance
899428 rs182366825 GRCh37: 22:37462096-37462096
GRCh38: 22:37066056-37066056
21 TMPRSS6 NM_001374504.1(TMPRSS6):c.2374G>A (p.Gly792Ser) SNV Uncertain Significance
899429 rs140207191 GRCh37: 22:37462155-37462155
GRCh38: 22:37066115-37066115
22 TMPRSS6 NM_001374504.1(TMPRSS6):c.2250+15C>T SNV Uncertain Significance
899430 rs202222895 GRCh37: 22:37462851-37462851
GRCh38: 22:37066811-37066811
23 TMPRSS6 NM_001374504.1(TMPRSS6):c.1355A>G (p.Glu452Gly) SNV Uncertain Significance
899478 rs865982171 GRCh37: 22:37470736-37470736
GRCh38: 22:37074696-37074696
24 TMPRSS6 NM_001374504.1(TMPRSS6):c.530C>T (p.Ser177Leu) SNV Uncertain Significance
899544 rs139489941 GRCh37: 22:37492005-37492005
GRCh38: 22:37095965-37095965
25 TMPRSS6 NM_001374504.1(TMPRSS6):c.143T>A (p.Phe48Tyr) SNV Uncertain Significance
341604 rs745388319 GRCh37: 22:37499315-37499315
GRCh38: 22:37103275-37103275
26 TMPRSS6 NM_001374504.1(TMPRSS6):c.451G>A (p.Glu151Lys) SNV Uncertain Significance
341601 rs752163489 GRCh37: 22:37492084-37492084
GRCh38: 22:37096044-37096044
27 TMPRSS6 NM_001374504.1(TMPRSS6):c.*303T>G SNV Uncertain Significance
341573 rs886057490 GRCh37: 22:37461817-37461817
GRCh38: 22:37065777-37065777
28 TMPRSS6 NM_001374504.1(TMPRSS6):c.838G>T (p.Val280Leu) SNV Uncertain Significance
341594 rs201148397 GRCh37: 22:37482458-37482458
GRCh38: 22:37086418-37086418
29 TMPRSS6 NM_001374504.1(TMPRSS6):c.1197-4C>G SNV Uncertain Significance
341589 rs529716198 GRCh37: 22:37471324-37471324
GRCh38: 22:37075284-37075284
30 TMPRSS6 NM_001374504.1(TMPRSS6):c.*35T>C SNV Uncertain Significance
341576 rs199957731 GRCh37: 22:37462085-37462085
GRCh38: 22:37066045-37066045
31 TMPRSS6 NM_001374504.1(TMPRSS6):c.693C>T (p.His231=) SNV Uncertain Significance
341596 rs769301726 GRCh37: 22:37485761-37485761
GRCh38: 22:37089721-37089721
32 TMPRSS6 NM_001374504.1(TMPRSS6):c.1085C>T (p.Thr362Met) SNV Uncertain Significance
1030290 rs144261072 GRCh37: 22:37480768-37480768
GRCh38: 22:37084728-37084728
33 TMPRSS6 NM_001374504.1(TMPRSS6):c.827T>G (p.Leu276Arg) SNV Uncertain Significance
1030292 rs372887020 GRCh37: 22:37485627-37485627
GRCh38: 22:37089587-37089587
34 TMPRSS6 NM_001374504.1(TMPRSS6):c.1440C>T (p.Cys480=) SNV Uncertain Significance
899477 rs546574834 GRCh37: 22:37470651-37470651
GRCh38: 22:37074611-37074611
35 TMPRSS6 NM_001374504.1(TMPRSS6):c.*251T>A SNV Uncertain Significance
903048 rs1926220781 GRCh37: 22:37461869-37461869
GRCh38: 22:37065829-37065829
36 TMPRSS6 NM_001374504.1(TMPRSS6):c.*212T>A SNV Uncertain Significance
903049 rs781781005 GRCh37: 22:37461908-37461908
GRCh38: 22:37065868-37065868
37 TMPRSS6 NM_001374504.1(TMPRSS6):c.1687G>A (p.Gly563Ser) SNV Uncertain Significance
903101 rs148129773 GRCh37: 22:37466678-37466678
GRCh38: 22:37070638-37070638
38 TMPRSS6 NM_001374504.1(TMPRSS6):c.1651G>A (p.Gly551Ser) SNV Uncertain Significance
903102 rs375396615 GRCh37: 22:37466977-37466977
GRCh38: 22:37070937-37070937
39 TMPRSS6 NM_001374504.1(TMPRSS6):c.1633C>T (p.Arg545Trp) SNV Uncertain Significance
903104 rs140758411 GRCh37: 22:37466995-37466995
GRCh38: 22:37070955-37070955
40 TMPRSS6 NM_001374504.1(TMPRSS6):c.656G>A (p.Gly219Asp) SNV Uncertain Significance
903164 rs754848810 GRCh37: 22:37485798-37485798
GRCh38: 22:37089758-37089758
41 TMPRSS6 NM_001374504.1(TMPRSS6):c.648C>A (p.Ser216Arg) SNV Uncertain Significance
903165 rs758253807 GRCh37: 22:37485806-37485806
GRCh38: 22:37089766-37089766
42 TMPRSS6 NM_001374504.1(TMPRSS6):c.549G>A (p.Arg183=) SNV Uncertain Significance
903166 rs964576902 GRCh37: 22:37491986-37491986
GRCh38: 22:37095946-37095946
43 TMPRSS6 NM_001374504.1(TMPRSS6):c.589+9T>C SNV Uncertain Significance
341598 rs377665035 GRCh37: 22:37491937-37491937
GRCh38: 22:37095897-37095897
44 TMPRSS6 NM_001374504.1(TMPRSS6):c.334A>G (p.Met112Val) SNV Uncertain Significance
899548 rs766769149 GRCh37: 22:37494458-37494458
GRCh38: 22:37098418-37098418
45 TMPRSS6 NM_001374504.1(TMPRSS6):c.2250+7C>A SNV Uncertain Significance
900548 rs763966214 GRCh37: 22:37462859-37462859
GRCh38: 22:37066819-37066819
46 TMPRSS6 NM_001374504.1(TMPRSS6):c.2204G>A (p.Arg735His) SNV Uncertain Significance
900549 rs371794539 GRCh37: 22:37462912-37462912
GRCh38: 22:37066872-37066872
47 TMPRSS6 NM_001374504.1(TMPRSS6):c.1309C>G (p.Arg437Gly) SNV Uncertain Significance
900613 rs117576908 GRCh37: 22:37471208-37471208
GRCh38: 22:37075168-37075168
48 TMPRSS6 NM_001374504.1(TMPRSS6):c.1086G>A (p.Thr362=) SNV Uncertain Significance
900614 rs976867694 GRCh37: 22:37480767-37480767
GRCh38: 22:37084727-37084727
49 TMPRSS6 NM_001374504.1(TMPRSS6):c.287G>A (p.Arg96His) SNV Uncertain Significance
900681 rs768158521 GRCh37: 22:37494505-37494505
GRCh38: 22:37098465-37098465
50 TMPRSS6 NM_001374504.1(TMPRSS6):c.251G>C (p.Arg84Pro) SNV Uncertain Significance
900682 rs750512709 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 TFRC TF SLC40A1 SLC11A2 PSMB8 IREB2
2 12.24 SLC11A2 IREB2 G6PD ACO1
3
Show member pathways
12.17 SLC40A1 SLC11A2 PSMB8 HEPH
4
Show member pathways
11.74 SLC40A1 SLC11A2 HEPH
5 11.42 HAMP SLC40A1 TF TFRC
6
Show member pathways
11.4 TFRC TF SLC40A1 SLC11A2 IREB2 HEPH
7 11.39 TFRC TF EPO
8 11.36 TFRC TF SLC40A1 SLC11A2 IREB2
9 10.28 TMPRSS6 HJV HAMP
10 10.16 SLC40A1 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 HFE-transferrin receptor complex GO:1990712 9.1 TFRC TF HJV

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 10.13 TFRC SLC11A2 EPO ALAS2
2 establishment of localization in cell GO:0051649 9.98 HAMP IREB2 SLC11A2 SLC40A1
3 osteoclast differentiation GO:0030316 9.95 TFRC TF IREB2
4 iron ion transport GO:0006826 9.9 TFRC TF SLC40A1 SLC11A2 IREB2 HEPH
5 response to iron ion GO:0010039 9.88 TFRC SLC11A2 HAMP
6 acute-phase response GO:0006953 9.86 CRP EPO HAMP TFRC
7 iron ion transmembrane transport GO:0034755 9.85 SLC40A1 SLC11A2 HAMP
8 protoporphyrinogen IX biosynthetic process GO:0006782 9.84 IREB2 ALAS2
9 hemoglobin biosynthetic process GO:0042541 9.81 EPO ALAS2
10 multicellular organismal iron ion homeostasis GO:0060586 9.8 SLC40A1 SLC11A2 HAMP
11 iron ion homeostasis GO:0055072 9.8 HAMP HEPH HJV IREB2 SLC11A2 SLC40A1
12 citrate metabolic process GO:0006101 9.76 IREB2 ACO1
13 cellular iron ion homeostasis GO:0006879 9.66 TMPRSS6 TFRC TF SLC40A1 SLC11A2 IREB2
14 porphyrin-containing compound metabolic process GO:0006778 9.49 SLC11A2 ALAS2

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

# Name GO ID Score Top Affiliating Genes
1 transferrin receptor binding GO:1990459 9.62 TF HJV
2 iron ion transmembrane transporter activity GO:0005381 9.56 SLC40A1 SLC11A2
3 ferrous iron transmembrane transporter activity GO:0015093 9.46 SLC40A1 SLC11A2
4 iron-responsive element binding GO:0030350 9.26 IREB2 ACO1
5 aconitate hydratase activity GO:0003994 8.92 IREB2 ACO1

Sources for Microcytic Anemia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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