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MCID: MCR018
MIFTS: 47

Microcytic Anemia

Categories: Blood diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Microcytic Anemia

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MalaCards integrated aliases for Microcytic Anemia:

Name: Microcytic Anemia 12 29 54 6 15
Iron-Refractory Iron Deficiency Anemia 43 71

Classifications:

MalaCards categories:
Anatomical: Blood diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:11252
MeSH 43 C562385
NCIt 49 C35141
SNOMED-CT 67 722005000
UMLS 71 C0085576
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Summaries for Microcytic Anemia

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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 Citric acid have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and colon, 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...

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Related Diseases for Microcytic Anemia

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

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 hypochromic microcytic anemia with iron overload 35.1 STEAP3 SLC11A2
2 iron-refractory iron deficiency anemia 33.6 TMPRSS6 HJV EPO
3 anemia, sideroblastic, and spinocerebellar ataxia 32.8 GLRX5 ALAS2 ACO1
4 hypochromic microcytic anemia 32.4 TMPRSS6 TFRC TF STEAP3 SLC11A2 LPIN2
5 atransferrinemia 32.2 TMPRSS6 TFRC TF SLC11A2 HJV HEPH
6 anemia, sideroblastic, 1 31.2 TMPRSS6 TFRC STEAP3 SLC11A2 IREB2 HJV
7 alpha-thalassemia 30.5 TFRC HBA2 HBA1 G6PD EPO
8 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 30.4 TFRC TF SLC11A2 HJV HBA2 HAMP
9 polycythemia 30.2 TFRC HBA2 HAMP EPO
10 protoporphyria, erythropoietic, 1 30.2 TFRC IREB2 GLRX5 CAT ALAS2 ACO1
11 hemolytic anemia 30.1 TFRC TF HBA2 HBA1 G6PD EPO
12 thalassemia 30.0 TMPRSS6 TFRC TF HJV HBA2 HBA1
13 hemochromatosis type 2 29.7 TMPRSS6 TFRC SLC11A2 HJV HEPH HAMP
14 sideroblastic anemia 29.7 TFRC IREB2 HJV HAMP GLRX5 ALAS2
15 hemosiderosis 29.5 TFRC TF SLC11A2 IREB2 HJV HEPH
16 iron metabolism disease 29.5 TMPRSS6 TFRC TF SLC11A2 IREB2 HJV
17 iron deficiency anemia 29.4 TMPRSS6 TFRC TF SLC11A2 HJV HEPH
18 beta-thalassemia 29.2 TMPRSS6 TFRC TF IREB2 HJV HBA2
19 deficiency anemia 29.1 TMPRSS6 TFRC TF STEAP3 SLC11A2 IREB2
20 hemoglobinopathy 29.0 TFRC TF HJV HBA2 HBA1 HAMP
21 aceruloplasminemia 28.9 TMPRSS6 TFRC STEAP3 SLC11A2 IREB2 HJV
22 hemochromatosis, type 1 28.1 TMPRSS6 TFRC TF STEAP3 SLC11A2 IREB2
23 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 12.7
24 proteasome-associated autoinflammatory syndrome 1 12.4
25 anemia, hypochromic microcytic, with iron overload 1 11.9
26 anemia, hypochromic microcytic, with iron overload 2 11.6
27 fetal hemoglobin quantitative trait locus 1 11.6
28 3-methylglutaconic aciduria, type v 11.5
29 sialuria 11.4
30 anemia, congenital dyserythropoietic, type iii 11.3
31 5-oxoprolinase deficiency 11.3
32 majeed syndrome 11.3
33 infantile liver failure syndrome 1 11.3
34 triokinase and fmn cyclase deficiency syndrome 11.3
35 macrocytic anemia 11.3
36 rare hereditary hemochromatosis 10.5
37 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.4 HBA2 HBA1
38 glutathione peroxidase deficiency 10.4 HBA2 HBA1
39 methemoglobinemia, beta-globin type 10.4 HBA2 HBA1
40 erythrocytosis, familial, 7 10.4 HBA2 HBA1
41 neurodegeneration with brain iron accumulation 3 10.4 SLC11A2 IREB2 ACO1
42 spastic paraplegia 38, autosomal dominant 10.4 TFRC IREB2 ACO1
43 alpha thalassemia-intellectual disability syndrome type 1 10.4 HBA2 HBA1
44 tracheal calcification 10.4 HEPH EPO
45 hypoglycemic coma 10.4 HBA2 HBA1
46 conidiobolomycosis 10.3 HEPH EPO
47 diabetes mellitus, insulin-dependent, 24 10.3 HBA2 HBA1
48 rh isoimmunization 10.3 G6PD EPO
49 hydrops fetalis, nonimmune 10.3 HBA2 HBA1
50 erythrocytosis, familial, 8 10.3 HBA2 HBA1

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



Diseases related to Microcytic Anemia
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Symptoms & Phenotypes for Microcytic Anemia

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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 TMPRSS6
4 Decreased viability GR00386-A-1 9.96 ACO1 EPO G6PD IREB2 TF
5 Decreased viability GR00402-S-2 9.96 G6PD HAMP HJV SLC11A2 TF TFRC
6 Increased the percentage of infected cells GR00402-S-1 8.32 IREB2

MGI Mouse Phenotypes related to Microcytic Anemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.24 ALAS2 EPO G6PD HBA2 HEPH HJV
2 homeostasis/metabolism MP:0005376 10.22 ACO1 ALAS2 CAT EPO G6PD HBA2
3 cardiovascular system MP:0005385 10.1 EPO G6PD HEPH HJV IREB2 LPIN2
4 immune system MP:0005387 10.03 EPO HEPH HJV IREB2 LPIN2 PSMB8
5 integument MP:0010771 9.85 ALAS2 EPO HBA2 HEPH HJV IREB2
6 liver/biliary system MP:0005370 9.65 EPO HEPH HJV IREB2 LPIN2 SLC11A2
7 mortality/aging MP:0010768 9.47 ACO1 ALAS2 CAT EPO G6PD HBA2
Sources

Drugs & Therapeutics for Microcytic Anemia

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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
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
3 Citrate Phase 2
4 Anticoagulants Phase 2
5 Pharmaceutical Solutions Phase 2
6 Chelating Agents Phase 2
7 Iron Supplement Phase 2
8 Calcium, Dietary Phase 2
9
Calcium Nutraceutical Phase 2 7440-70-2 271
10
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925

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 Completed 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 The Effect of Genetic Variation in TMPRSS6 Gene (SNP rs855791) on Oral Iron Absorption: an Iron Stable Isotope Study Completed NCT03317873
4 Impact of Preoperative Martial Deficiency on the Level of Blood Transfusion in Programmed Cardiac Surgery (CARMATS) Completed NCT03261583
5 Screening for Alpha Globin Deletions Recruiting NCT02692872
6 Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter. A Clinical Retrospective Study. Active, not recruiting NCT00481221

Search NIH Clinical Center for Microcytic Anemia

Cochrane evidence based reviews: iron-refractory iron deficiency anemia

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Genetic Tests for Microcytic Anemia

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Genetic tests related to Microcytic Anemia:

# Genetic test Affiliating Genes
1 Microcytic Anemia 29 TMPRSS6
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Anatomical Context for Microcytic Anemia

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MalaCards organs/tissues related to Microcytic Anemia:

40
Liver, Bone, Colon, Bone Marrow, Heart, Testes, Lymph Node
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Publications for Microcytic Anemia

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Articles related to Microcytic Anemia:

(show top 50) (show all 919)
# Title Authors PMID Year
1
Not all DMT1 mutations lead to iron overload. 61 54
19553145 2009
2
Exosome secretion, including the DNA damage-induced p53-dependent secretory pathway, is severely compromised in TSAP6/Steap3-null mice. 61 54
18617898 2008
3
A novel beta-Thalassemic allele due to a two nucleotide deletion: beta76 (-GC). 54 61
17365003 2007
4
Belgrade rats display liver iron loading. 54 61
17116712 2006
5
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
6
Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 61 54
16439678 2006
7
Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). 54 61
16160008 2006
8
Functional characterization of the E399D DMT1/NRAMP2/SLC11A2 protein produced by an exon 12 mutation in a patient with microcytic anemia and iron overload. 61 54
16023393 2005
9
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
10
Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2. 54 61
15831703 2005
11
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 61 54
15459009 2005
12
G6PD/PK ratio: a reliable parameter to identify glucose-6-phosphate dehydrogenase deficiency associated with microcytic anemia in heterozygous subjects. 61 54
15369716 2004
13
[Conventional and new laboratory parameters in the evaluation of hematologic disease]. 54 61
15018392 2004
14
Anemia with erythropoietin deficiency occurs early in diabetic nephropathy. 61 54
11289474 2001
15
Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron. 61 54
10361139 1999
16
The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. 54 61
9642100 1998
17
Defective iron supply for erythropoiesis and adequate endogenous erythropoietin production in the anemia associated with systemic-onset juvenile chronic arthritis. 54 61
8639855 1996
18
The molecular basis of the sideroblastic anemias. 54 61
9372069 1996
19
Resolution of anemia and improved quality of life following laparoscopic hiatal hernia repair. 61
31399944 2020
20
Verification of 20 Mathematical Formulas for Discriminating Between Iron Deficiency Anemia and Thalassemia Trait in Microcytic Anemia. 61
32539140 2020
21
Role of RDW in mathematical formulas aiding the differential diagnosis of microcytic anemia. 61
32530320 2020
22
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
23
Whipple disease diagnosed by enteroscopy: first case report in Colombia of an underdiagnosed disease and literature review. 61
32576148 2020
24
Microcytic anemia associated with mTOR or calcineurin inhibition: An unusual situation after allogeneic hematopoietic stem cell transplantation. 61
32134191 2020
25
Hematological and immunological responses in the African catfish Clarias gairepinus exposed to sublethal concentrations of herbicide Ronstar®. 61
32544747 2020
26
The toxicology of gallium oxide in comparison with gallium arsenide and indium oxide. 61
32565349 2020
27
Histologic and Laboratory Characteristics of Symptomatic and Asymptomatic Castleman Disease in the Pediatric Population. 61
32112075 2020
28
Microcytic anemia in children: parallel screening for iron deficiency and thalassemia provides a useful opportunity for thalassemia prevention in low- and middle-income countries. 61
32072846 2020
29
Liver cirrhosis in a child associated with Castleman's disease: A case report. 61
32432144 2020
30
Severe Microcytic Anemia and Chronic Abdominal Pain in a Pediatric Patient. 61
31965825 2020
31
Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model. 61
31990410 2020
32
Genetic analysis of TMPRSS6 gene in Saudi female patients with iron deficiency anemia. 61
32446932 2020
33
A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del. 61
32028041 2020
34
Two Novel TMPRSS6 Variants in a Compound Heterozygous Child With Iron Refractory Iron Deficiency Anemia. 61
31714439 2020
35
Hepcidin, an overview of biochemical and clinical properties. 61
32450084 2020
36
Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India. 61
32112123 2020
37
Anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in 884 patients with burning mouth syndrome. 61
31679908 2020
38
Erythrocyte Indices as Differential Diagnostic Biomarkers of Iron Deficiency Anemia and Thalassemia. 61
31568184 2020
39
Deferasirox Might be Effective for Microcytic Anemia and Neurological Symptoms Associated with Aceruloplasminemia: A Case Report and Review of the Literature. 61
32238721 2020
40
A Tale of Three Rarities: Secondary Amyloid A (AA) Amyloidosis Caused by Recurrent Sialadenitis and Complicated by Pulmonary Hypertension and Adrenal Insufficiency. 61
32455087 2020
41
Prevalence of hemoglobin abnormalities in an apparently healthy population in Benin. 61
31523029 2020
42
Distribution of hemoglobin levels and prevalence of anemia according to sex, age group, and region in 13 Korean cities. 61
32048801 2020
43
Type of Anemia, Chronic Non-cardiovascular Illnesses, and Outcomes of Patients with ST-segment Elevation Myocardial Infarction. 61
32374259 2020
44
Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report. 61
32258084 2020
45
Zika virus infection studies with CD34+ hematopoietic and megakaryocyte-erythroid progenitors, red blood cells and platelets. 61
32086956 2020
46
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis. 61
32235485 2020
47
A Case of a 15-Month-Old With Periorbital Edema and Severe Anemia. 61
32079720 2020
48
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with vitamin B12 deficiency. 61
31630933 2020
49
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. 61
32004446 2020
50
Red blood cell distribution width has higher diagnostic performance in microcytic anemia when expressed in "absolute" units. 61
31225697 2020
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Variations for Microcytic Anemia

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ClinVar genetic disease variations for Microcytic Anemia:

6 (show top 50) (show all 115) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 21 genes: AVPR2 , FLNA , GDI1 , L1CAM , MECP2 GRCh37/hg19 Xq28(chrX:153138672-153665655)copy number gain Pathogenic 523295 X:153138672-153665655
2 TMPRSS6 NM_153609.3(TMPRSS6):c.234C>G (p.Tyr78Ter)SNV Pathogenic 617552 rs1569024289 22:37494585-37494585 22:37098545-37098545
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.2055_2058dup (p.Val687fs)duplication Pathogenic 1409 rs786205060 22:37465194-37465195 22:37069154-37069155
5 TMPRSS6 NM_153609.3(TMPRSS6):c.353C>A (p.Ala118Asp)SNV Pathogenic 1410 rs267607121 22:37494466-37494466 22:37098426-37098426
6 TMPRSS6 NM_153609.3(TMPRSS6):c.1564G>A (p.Glu522Lys)SNV Pathogenic 30802 rs387907018 22:37469590-37469590 22:37073550-37073550
7 TMPRSS6 NM_153609.3(TMPRSS6):c.1904_1905dup (p.Lys636fs)duplication Pathogenic 1399 rs869320724 22:37465347-37465348 22:37069307-37069308
8 TMPRSS6 NM_153609.3(TMPRSS6):c.1813del (p.Ala605fs)deletion Pathogenic 1400 rs767094129 22:37466579-37466579 22:37070539-37070539
9 TMPRSS6 NM_153609.3(TMPRSS6):c.1582+1G>ASNV Pathogenic 1401 rs786205058 22:37469571-37469571 22:37073531-37073531
10 TMPRSS6 NM_153609.3(TMPRSS6):c.2140+1G>CSNV Pathogenic 1402 rs786205059 22:37465112-37465112 22:37069072-37069072
11 TMPRSS6 NM_153609.3(TMPRSS6):c.1324G>A (p.Gly442Arg)SNV Pathogenic 1403 rs137853119 22:37471220-37471220 22:37075180-37075180
12 TMPRSS6 NM_153609.3(TMPRSS6):c.1561G>A (p.Asp521Asn)SNV Pathogenic 1404 rs137853120 22:37469593-37469593 22:37073553-37073553
13 TMPRSS6 NM_153609.3(TMPRSS6):c.1065C>A (p.Tyr355Ter)SNV Pathogenic 1405 rs137853121 22:37480815-37480815 22:37084775-37084775
14 TMPRSS6 NM_153609.3(TMPRSS6):c.1382del (p.Glu461fs)deletion Pathogenic 1406 22:37470736-37470736 22:37074696-37074696
15 TMPRSS6 NM_153609.3(TMPRSS6):c.1179T>G (p.Tyr393Ter)SNV Pathogenic 1407 rs137853122 22:37480379-37480379 22:37084339-37084339
16 TMPRSS6 NM_153609.3(TMPRSS6):c.1795C>T (p.Arg599Ter)SNV Pathogenic/Likely pathogenic 1408 rs137853123 22:37466597-37466597 22:37070557-37070557
17 TMPRSS6 NM_153609.3(TMPRSS6):c.1233C>T (p.Gly411=)SNV Conflicting interpretations of pathogenicity 341588 rs146266448 22:37471311-37471311 22:37075271-37075271
18 TMPRSS6 NM_153609.3(TMPRSS6):c.1000+11deldeletion Uncertain significance 341592 rs780218999 22:37482312-37482312 22:37086272-37086272
19 TMPRSS6 NM_153609.3(TMPRSS6):c.720C>T (p.His240=)SNV Uncertain significance 341596 rs769301726 22:37485761-37485761 22:37089721-37089721
20 TMPRSS6 NM_153609.3(TMPRSS6):c.659-8C>TSNV Uncertain significance 341597 rs375234781 22:37485830-37485830 22:37089790-37089790
21 TMPRSS6 NM_153609.3(TMPRSS6):c.170T>A (p.Phe57Tyr)SNV Uncertain significance 341604 rs745388319 22:37499315-37499315 22:37103275-37103275
22 TMPRSS6 NM_153609.3(TMPRSS6):c.*499C>TSNV Uncertain significance 341572 rs560949530 22:37461621-37461621 22:37065581-37065581
23 TMPRSS6 NM_153609.3(TMPRSS6):c.478G>A (p.Glu160Lys)SNV Uncertain significance 341601 rs752163489 22:37492084-37492084 22:37096044-37096044
24 TMPRSS6 NM_153609.3(TMPRSS6):c.1365G>A (p.Ser455=)SNV Uncertain significance 341587 rs776737568 22:37471179-37471179 22:37075139-37075139
25 TMPRSS6 NM_153609.3(TMPRSS6):c.*303T>GSNV Uncertain significance 341573 rs886057490 22:37461817-37461817 22:37065777-37065777
26 TMPRSS6 NM_153609.3(TMPRSS6):c.1096T>C (p.Cys366Arg)SNV Uncertain significance 341590 rs886057492 22:37480784-37480784 22:37084744-37084744
27 TMPRSS6 NM_153609.3(TMPRSS6):c.909G>A (p.Ala303=)SNV Uncertain significance 341593 rs370192027 22:37482414-37482414 22:37086374-37086374
28 TMPRSS6 NM_153609.3(TMPRSS6):c.438A>G (p.Gly146=)SNV Uncertain significance 341602 rs375681801 22:37492124-37492124 22:37096084-37096084
29 TMPRSS6 NM_153609.3(TMPRSS6):c.154C>T (p.Arg52Cys)SNV Uncertain significance 341605 rs750274321 22:37499331-37499331 22:37103291-37103291
30 TMPRSS6 NM_153609.3(TMPRSS6):c.*140C>TSNV Uncertain significance 341574 rs886057491 22:37461980-37461980 22:37065940-37065940
31 TMPRSS6 NM_153609.3(TMPRSS6):c.*35T>CSNV Uncertain significance 341576 rs199957731 22:37462085-37462085 22:37066045-37066045
32 TMPRSS6 NM_153609.3(TMPRSS6):c.1520C>T (p.Pro507Leu)SNV Uncertain significance 341584 rs138915369 22:37469634-37469634 22:37073594-37073594
33 TMPRSS6 NM_153609.3(TMPRSS6):c.1224-4C>GSNV Uncertain significance 341589 rs529716198 22:37471324-37471324 22:37075284-37075284
34 TMPRSS6 NM_153609.3(TMPRSS6):c.865G>T (p.Val289Leu)SNV Uncertain significance 341594 rs201148397 22:37482458-37482458 22:37086418-37086418
35 TMPRSS6 NM_153609.3(TMPRSS6):c.616+9T>CSNV Uncertain significance 341598 rs377665035 22:37491937-37491937 22:37095897-37095897
36 TMPRSS6 NM_153609.3(TMPRSS6):c.270C>A (p.Gly90=)SNV Uncertain significance 341603 rs147397866 22:37494549-37494549 22:37098509-37098509
37 TMPRSS6 NM_001374504.1(TMPRSS6):c.334A>G (p.Met112Val)SNV Uncertain significance 899548 22:37494458-37494458 22:37098418-37098418
38 TMPRSS6 NM_153609.3(TMPRSS6):c.2085C>G (p.Phe695Leu)SNV Uncertain significance 341581 rs375189210 22:37465168-37465168 22:37069128-37069128
39 TMPRSS6 NM_153609.3(TMPRSS6):c.1789C>T (p.Arg597Trp)SNV Uncertain significance 631894 rs773272073 22:37466603-37466603 22:37070563-37070563
40 TMPRSS6 NM_153609.3(TMPRSS6):c.984_985insGGAGACC (p.Pro329fs)insertion Uncertain significance 631895 rs1569012596 22:37482338-37482339 22:37086298-37086299
41 TMPRSS6 NM_001374504.1(TMPRSS6):c.*251T>ASNV Uncertain significance 903048 22:37461869-37461869 22:37065829-37065829
42 TMPRSS6 NM_001374504.1(TMPRSS6):c.*212T>ASNV Uncertain significance 903049 22:37461908-37461908 22:37065868-37065868
43 TMPRSS6 NM_001374504.1(TMPRSS6):c.*24G>ASNV Uncertain significance 899428 22:37462096-37462096 22:37066056-37066056
44 TMPRSS6 NM_001374504.1(TMPRSS6):c.2374G>A (p.Gly792Ser)SNV Uncertain significance 899429 22:37462155-37462155 22:37066115-37066115
45 TMPRSS6 NM_001374504.1(TMPRSS6):c.2204G>A (p.Arg735His)SNV Uncertain significance 900549 22:37462912-37462912 22:37066872-37066872
46 TMPRSS6 NM_001374504.1(TMPRSS6):c.2099C>T (p.Ala700Val)SNV Uncertain significance 902216 22:37465127-37465127 22:37069087-37069087
47 TMPRSS6 NM_001374504.1(TMPRSS6):c.2014T>C (p.Ser672Pro)SNV Uncertain significance 902218 22:37465212-37465212 22:37069172-37069172
48 TMPRSS6 NM_001374504.1(TMPRSS6):c.2004G>A (p.Pro668=)SNV Uncertain significance 902219 22:37465222-37465222 22:37069182-37069182
49 TMPRSS6 NM_001374504.1(TMPRSS6):c.1999C>T (p.His667Tyr)SNV Uncertain significance 902220 22:37465227-37465227 22:37069187-37069187
50 TMPRSS6 NM_001374504.1(TMPRSS6):c.1851C>T (p.Ser617=)SNV Uncertain significance 902221 22:37465375-37465375 22:37069335-37069335
Sources

Expression for Microcytic Anemia

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Search GEO for disease gene expression data for Microcytic Anemia.
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Pathways for Microcytic Anemia

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

# Super pathways Score Top Affiliating Genes
1
Glucose / Energy Metabolism 4
12.21 SLC11A2 IREB2 G6PD CAT ACO1
2
Insulin receptor recycling 65
Show member pathways
 12.1 TFRC TF STEAP3 SLC11A2 HEPH
3
HIF-1 signaling pathway 36
11.65 TFRC TF EPO
4
HIF-1-alpha transcription factor network 1
11.39 TFRC TF EPO
5
Mineral absorption 36
11.31 TF SLC11A2 HEPH
6
Ferroptosis 36
11.07 TFRC TF STEAP3 SLC11A2
7
Iron metabolism in placenta 1
10.25 TFRC TF STEAP3 SLC11A2 IREB2 HAMP
8
Hfe effect on hepcidin production 1
9.98 TMPRSS6 HJV HAMP
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GO Terms for Microcytic Anemia

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.08 TFRC TF PSMB8 HBA2 HBA1 G6PD
2 cell surface GO:0009986 9.89 TFRC TF SLC11A2 HJV EPO
3 extracellular space GO:0005615 9.85 TMPRSS6 TFRC TF ST14 HJV HBA2
4 recycling endosome GO:0055037 9.69 TFRC TF SLC11A2
5 endosome membrane GO:0010008 9.67 TFRC TF STEAP3 SLC11A2
6 blood microparticle GO:0072562 9.56 TFRC TF HBA2 HBA1
7 endocytic vesicle lumen GO:0071682 9.46 HBA2 HBA1
8 basal part of cell GO:0045178 9.43 TF SLC11A2
9 hemoglobin complex GO:0005833 9.4 HBA2 HBA1
10 cell GO:0005623 9.36 TMPRSS6 TFRC TF SLC11A2 IREB2 HJV
11 haptoglobin-hemoglobin complex GO:0031838 9.32 HBA2 HBA1
12 HFE-transferrin receptor complex GO:1990712 9.13 TFRC TF HJV

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.78 HAMP G6PD CAT
2 response to hypoxia GO:0001666 9.78 SLC11A2 EPO CAT ALAS2
3 cellular oxidant detoxification GO:0098869 9.73 HBA2 HBA1 CAT
4 response to hydrogen peroxide GO:0042542 9.69 HBA2 HBA1 CAT
5 heme biosynthetic process GO:0006783 9.63 SLC11A2 ALAS2
6 erythrocyte development GO:0048821 9.62 SLC11A2 ALAS2
7 positive regulation of bone resorption GO:0045780 9.62 TFRC TF
8 response to iron ion GO:0010039 9.61 SLC11A2 HAMP
9 oxygen transport GO:0015671 9.6 HBA2 HBA1
10 response to hyperoxia GO:0055093 9.59 EPO CAT
11 erythrocyte maturation GO:0043249 9.58 G6PD EPO
12 copper ion transport GO:0006825 9.58 SLC11A2 HEPH
13 transferrin transport GO:0033572 9.58 TFRC TF STEAP3
14 intestinal absorption GO:0050892 9.57 IREB2 ACO1
15 multicellular organismal iron ion homeostasis GO:0060586 9.55 SLC11A2 HAMP
16 iron ion transport GO:0006826 9.55 TFRC TF SLC11A2 IREB2 HEPH
17 iron ion transmembrane transport GO:0034755 9.54 TF SLC11A2
18 osteoclast differentiation GO:0030316 9.54 TFRC TF IREB2
19 protoporphyrinogen IX biosynthetic process GO:0006782 9.52 IREB2 ALAS2
20 hydrogen peroxide catabolic process GO:0042744 9.5 HBA2 HBA1 CAT
21 iron ion homeostasis GO:0055072 9.5 TMPRSS6 TF STEAP3 SLC11A2 IREB2 HJV
22 hemoglobin biosynthetic process GO:0042541 9.49 EPO ALAS2
23 porphyrin-containing compound metabolic process GO:0006778 9.46 SLC11A2 ALAS2
24 citrate metabolic process GO:0006101 9.43 IREB2 ACO1
25 response to vitamin A GO:0033189 9.43 HAMP EPO CAT
26 cellular iron ion homeostasis GO:0006879 9.32 TMPRSS6 TFRC TF SLC11A2 IREB2 HJV

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 9.43 HBA2 HBA1
2 iron-sulfur cluster binding GO:0051536 9.43 IREB2 GLRX5 ACO1
3 transferrin receptor binding GO:1990459 9.4 TF HJV
4 organic acid binding GO:0043177 9.37 HBA2 HBA1
5 peroxidase activity GO:0004601 9.33 HBA2 HBA1 CAT
6 haptoglobin binding GO:0031720 9.32 HBA2 HBA1
7 aconitate hydratase activity GO:0003994 8.96 IREB2 ACO1
8 iron-responsive element binding GO:0030350 8.62 IREB2 ACO1
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Sources for Microcytic Anemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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