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MCID: MCR018
MIFTS: 43

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 55 6 15
Iron-Refractory Iron Deficiency Anemia 44 73

Classifications:

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


External Ids:

Disease Ontology 12 DOID:11252
MeSH 44 C562385
NCIt 50 C35141
UMLS 73 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 hypochromic microcytic 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 Iron and Citric Acid have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 76 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 97)
# Related Disease Score Top Affiliating Genes
1 hypochromic microcytic anemia with iron overload 34.4 SLC11A2 STEAP3
2 hypochromic microcytic anemia 33.8 HBA2 SLC11A2 STEAP3 TF TMPRSS6
3 iron-refractory iron deficiency anemia 33.0 EPO TMPRSS6
4 atransferrinemia 32.2 ALAS2 SLC11A2 TF TFRC
5 anemia, sideroblastic, 1 31.7 ACO1 ALAS2 TFRC
6 hemosiderosis 30.6 EPO SLC11A2 TF TFRC
7 iron metabolism disease 30.3 EPO IREB2 SLC11A2 TF TFRC
8 thalassemia 30.1 EPO HBA1 HBA2 TF TFRC
9 iron deficiency anemia 29.9 EPO SLC11A2 TF TFRC TMPRSS6
10 alpha-thalassemia 29.8 EPO HBA1 HBA2 TFRC
11 deficiency anemia 29.6 ALAS2 EPO HBA2 SLC11A2 TF TFRC
12 beta-thalassemia 29.6 EPO HBA1 HBA2 TF TFRC
13 proteasome-associated autoinflammatory syndrome 1 12.1
14 anemia, hypochromic microcytic, with iron overload 2 11.5
15 anemia, hypochromic microcytic, with iron overload 1 11.4
16 3-methylglutaconic aciduria, type v 11.3
17 anemia, congenital dyserythropoietic, type iii 11.1
18 fetal hemoglobin quantitative trait locus 1 11.1
19 5-oxoprolinase deficiency 11.1
20 sialuria 11.1
21 anemia, sideroblastic, and spinocerebellar ataxia 11.1
22 majeed syndrome 11.1
23 infantile liver failure syndrome 1 11.1
24 macrocytic anemia 11.1
25 siderosis 10.2 TF TFRC
26 iron overload in africa 10.1 TF TFRC
27 metal metabolism disorder 10.1 SLC11A2 TF TFRC
28 toxic optic neuropathy 10.1 CAT EPO
29 celiac disease 1 10.1
30 renal tubular acidosis 10.1
31 castleman disease 10.1
32 panniculitis 10.1
33 unicentric castleman disease 10.1
34 renal cell carcinoma, nonpapillary 10.1
35 essential thrombocythemia 10.1
36 refractory anemia 10.1 ALAS2 EPO
37 fetal erythroblastosis 10.1 EPO TFRC
38 hemochromatosis type 2 10.1 ALAS2 TF
39 neonatal anemia 10.0 EPO HBA2
40 plethora of newborn 10.0 EPO TF
41 diabetic autonomic neuropathy 10.0 EPO HBA2
42 ehrlichiosis 10.0 ACO1 TFRC
43 nutritional deficiency disease 10.0 EPO TF TMPRSS6
44 pure red-cell aplasia 10.0 EPO TF
45 folic acid deficiency anemia 10.0 EPO TF TFRC
46 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.0 HBA1 HBA2
47 methemoglobinemia, beta-globin type 10.0 HBA1 HBA2
48 diabetes mellitus, insulin-dependent, 24 10.0 HBA1 HBA2
49 hydrops fetalis, nonimmune 10.0 HBA1 HBA2
50 hydrops fetalis 10.0 HBA1 HBA2

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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MGI Mouse Phenotypes related to Microcytic Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.07 ALAS2 EPO IREB2 PSMB8 SLC11A2 ST14
2 homeostasis/metabolism MP:0005376 10.06 ACO1 ALAS2 CAT EPO IREB2 SLC11A2
3 immune system MP:0005387 9.86 EPO IREB2 PSMB8 SLC11A2 ST14 STEAP3
4 integument MP:0010771 9.7 ALAS2 EPO IREB2 SLC11A2 ST14 TFRC
5 liver/biliary system MP:0005370 9.43 EPO IREB2 SLC11A2 STEAP3 TFRC TMPRSS6
6 mortality/aging MP:0010768 9.36 ACO1 ALAS2 CAT EPO HBA2 IREB2
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
Iron Approved Phase 2,Not Applicable 7439-89-6 23925
2
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
3 Trace Elements Phase 2,Not Applicable
4 Citrate Phase 2
5 Pharmaceutical Solutions Phase 2
6 Micronutrients Phase 2,Not Applicable
7 Anticoagulants Phase 2
8 Iron Supplement Phase 2,Not Applicable
9 Chelating Agents Phase 2
10 Calcium, Dietary Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triferic IRIDA Protocol Completed NCT02905981 Phase 2 Fer-In-Sol;Shohl's solution;Triferic
2 The Effect of Genetic Variation in TMPRSS6 Gene (SNP rs855791) on Oral Iron Absorption: an Iron Stable Isotope Study Recruiting NCT03317873 Not Applicable
3 Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter Enrolling by invitation 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:

41
Bone, Liver, Bone Marrow, Skin, Kidney, Colon
Sources

Publications for Microcytic Anemia

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Articles related to Microcytic Anemia:

(show top 50) (show all 138)
# Title Authors Year
1
Identification of iron status of blood donors by using low hemoglobin density and microcytic anemia factor. ( 29563675 )
2018
2
Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload. ( 29178181 )
2018
3
Microcytic anemia due to ileocolic anastomotic ulcer. ( 29588085 )
2018
4
Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas. ( 29486517 )
2018
5
Iron Refractory Iron Deficiency Anemia Due to 374 Base Pairs Deletion in the TMPRSS6 Gene. ( 30130276 )
2018
6
Causes of Hypochromic Microcytic Anemia in Children and Evaluation of Laboratory Parameters in the Differentiation. ( 30557168 )
2018
7
Critical appraisal of discriminant formulas for distinguishing thalassemia from iron deficiency in patients with microcytic anemia. ( 28182576 )
2017
8
Gastrointestinal: Cause or effect: A case of microcytic anemia. ( 29024014 )
2017
9
Mutating heme oxygenase-1 into a peroxidase causes a defect in bilirubin synthesis associated with microcytic anemia and severe hyperinflammation. ( 27662012 )
2016
10
Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a reply. ( 26812799 )
2016
11
Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia. ( 26812794 )
2016
12
Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19Ga88>a88A) and Hb Osu Christiansborg (HBB: c.157Ga88>a88A). ( 27117572 )
2016
13
STUDY OF CORRELATION BETWEEN FERRITIN, BMI AND CRP IN SAUDI YOUNG FEMALES WITH MILD MICROCYTIC ANEMIA IN AL-GHAD COLLEGE, JEDDAH, KINGDOM OF SAUDI ARABIA. ( 30152944 )
2016
14
Extent of Microcytic Anemia among Children in a low-income, Peri-urban Community in the Dominican Republic using different cut-points. ( 25505156 )
2015
15
Abnormal erythroid maturation leads to microcytic anemia in the TSAP6/Steap3 null mouse model. ( 25515317 )
2015
16
Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The A^stanbul Perspective. ( 26377141 )
2015
17
Clinical Reasoning: A 28-year-old woman with lower extremity spasticity and microcytic anemia. ( 26170404 )
2015
18
Discrimination index of microcytic anemia in young soldiers: a single institutional analysis. ( 25679510 )
2015
19
Application of Innovative Hemocytometric Parameters and Algorithms for Improvement of Microcytic Anemia Discrimination. ( 26331001 )
2015
20
Prevalence of alpha thalassemia in microcytic anemia: a tertiary care experience from north India. ( 25574363 )
2015
21
Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a meta-analysis. ( 26536581 )
2015
22
Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia. ( 25772105 )
2015
23
A double red cells population in a woman with a microcytic anemia. ( 24660232 )
2014
24
Sixteen years post radiotherapy of nasopharyngeal carcinoma elicited multi-dysfunction along PTX and chronic kidney disease with microcytic anemia. ( 24520983 )
2014
25
Microcytic anemia. ( 25539121 )
2014
26
Differential diagnosis of microcytic anemia: the role of microcytic and hypochromic erythrocytes. ( 25181647 )
2014
27
Exacerbation of microcytic anemia associated with cessation of anti-retroviral therapy in an HIV-1-infected patient with beta thalassemia. ( 24613601 )
2014
28
Microcytic anemia. ( 25271605 )
2014
29
Meckel's diverticulum revealed by microcytic anemia: the contribution of CT enteroclysis. ( 24618562 )
2014
30
Microcytic anemia. ( 25539122 )
2014
31
Microcytic anemia. ( 25539120 )
2014
32
Enhanced accuracy of optical platelet counts in microcytic anemia. ( 24719982 )
2014
33
Microcytic anemia in a pregnant woman: beyond iron deficiency. ( 25547425 )
2014
34
Microcytic anemia. ( 25539123 )
2014
35
Early detection of iron deficiency in elite athletes: could microcytic anemia factor (Maf) be useful? ( 23731862 )
2013
36
p,p'-DDT induces microcytic anemia in rats. ( 24067725 )
2013
37
Iron-Refractory Microcytic Anemia as the Presenting Feature of Unicentric Castleman Disease in Children. ( 24367988 )
2013
38
Multivariable discriminant analysis for the differential diagnosis of microcytic anemia. ( 24093062 )
2013
39
Castleman-Kojima disease (TAFRO syndrome) : a novel systemic inflammatory disease characterized by a constellation of symptoms, namely, thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly : a status report and summary of Fukushima (6 June, 2012) and Nagoya meetings (22 September, 2012). ( 23801135 )
2013
40
Severe microcytic anemia but increased erythropoiesis in mice lacking Hfe or Tfr2 and Tmprss6. ( 22244935 )
2012
41
An unusual case of severe microcytic anemia. ( 22031122 )
2012
42
A simple method for examination of polymorphisms of catalase exon 9: rs769217 in Hungarian microcytic anemia and beta-thalassemia patients. ( 22286031 )
2012
43
A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload. ( 21871825 )
2011
44
The role of automated measurement of RBC subpopulations in differential diagnosis of microcytic anemia and I^-thalassemia screening. ( 21350090 )
2011
45
Surgically curable non-iron deficiency microcytic anemia: Castleman's disease. ( 21934347 )
2011
46
The role of automated measurement of red cell subpopulations on the Sysmex XE 5000 analyzer in the differential diagnosis of microcytic anemia. ( 20492000 )
2011
47
An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. ( 20534754 )
2010
48
PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis- induced lipodystrophy syndrome. ( 21129723 )
2010
49
Prevalence of common I+-thalassemia determinants in south Brazil: Importance for the diagnosis of microcytic anemia. ( 21637571 )
2010
50
Stiff-person syndrome in a female patient with type 1 diabetes, dermatitis herpetiformis, celiac disease, microcytic anemia and copper deficiency Just a coincidence or an additional shared pathophysiological mechanism? ( 19473752 )
2009
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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 128)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMPRSS6 NM_153609.3(TMPRSS6): c.1904_1905dupGC (p.Lys636Alafs) duplication Pathogenic rs869320724 GRCh38 Chromosome 22, 37069308: 37069309
2 TMPRSS6 NM_153609.3(TMPRSS6): c.1904_1905dupGC (p.Lys636Alafs) duplication Pathogenic rs869320724 GRCh37 Chromosome 22, 37465348: 37465349
3 TMPRSS6 NM_153609.3(TMPRSS6): c.1813delG (p.Ala605Profs) deletion Pathogenic rs786205057 GRCh37 Chromosome 22, 37466579: 37466579
4 TMPRSS6 NM_153609.3(TMPRSS6): c.1813delG (p.Ala605Profs) deletion Pathogenic rs786205057 GRCh38 Chromosome 22, 37070539: 37070539
5 TMPRSS6 NM_153609.3(TMPRSS6): c.1582+1G> A single nucleotide variant Pathogenic rs786205058 GRCh37 Chromosome 22, 37469571: 37469571
6 TMPRSS6 NM_153609.3(TMPRSS6): c.1582+1G> A single nucleotide variant Pathogenic rs786205058 GRCh38 Chromosome 22, 37073531: 37073531
7 TMPRSS6 NM_153609.3(TMPRSS6): c.2140+1G> C single nucleotide variant Pathogenic rs786205059 GRCh37 Chromosome 22, 37465112: 37465112
8 TMPRSS6 NM_153609.3(TMPRSS6): c.2140+1G> C single nucleotide variant Pathogenic rs786205059 GRCh38 Chromosome 22, 37069072: 37069072
9 TMPRSS6 NM_153609.3(TMPRSS6): c.1324G> A (p.Gly442Arg) single nucleotide variant Pathogenic rs137853119 GRCh37 Chromosome 22, 37471220: 37471220
10 TMPRSS6 NM_153609.3(TMPRSS6): c.1324G> A (p.Gly442Arg) single nucleotide variant Pathogenic rs137853119 GRCh38 Chromosome 22, 37075180: 37075180
11 TMPRSS6 NM_153609.3(TMPRSS6): c.1561G> A (p.Asp521Asn) single nucleotide variant Pathogenic rs137853120 GRCh37 Chromosome 22, 37469593: 37469593
12 TMPRSS6 NM_153609.3(TMPRSS6): c.1561G> A (p.Asp521Asn) single nucleotide variant Pathogenic rs137853120 GRCh38 Chromosome 22, 37073553: 37073553
13 TMPRSS6 NM_153609.3(TMPRSS6): c.1065C> A (p.Tyr355Ter) single nucleotide variant Pathogenic rs137853121 GRCh37 Chromosome 22, 37480815: 37480815
14 TMPRSS6 NM_153609.3(TMPRSS6): c.1065C> A (p.Tyr355Ter) single nucleotide variant Pathogenic rs137853121 GRCh38 Chromosome 22, 37084775: 37084775
15 TMPRSS6 TMPRSS6, 1-BP DEL, 1383A deletion Pathogenic
16 TMPRSS6 NM_153609.3(TMPRSS6): c.1179T> G (p.Tyr393Ter) single nucleotide variant Pathogenic rs137853122 GRCh37 Chromosome 22, 37480379: 37480379
17 TMPRSS6 NM_153609.3(TMPRSS6): c.1179T> G (p.Tyr393Ter) single nucleotide variant Pathogenic rs137853122 GRCh38 Chromosome 22, 37084339: 37084339
18 TMPRSS6 NM_153609.3(TMPRSS6): c.1795C> T (p.Arg599Ter) single nucleotide variant Pathogenic rs137853123 GRCh37 Chromosome 22, 37466597: 37466597
19 TMPRSS6 NM_153609.3(TMPRSS6): c.1795C> T (p.Arg599Ter) single nucleotide variant Pathogenic rs137853123 GRCh38 Chromosome 22, 37070557: 37070557
20 TMPRSS6 NM_153609.3(TMPRSS6): c.2055_2058dupCCCC (p.Val687Profs) duplication Pathogenic rs786205060 GRCh37 Chromosome 22, 37465195: 37465198
21 TMPRSS6 NM_153609.3(TMPRSS6): c.2055_2058dupCCCC (p.Val687Profs) duplication Pathogenic rs786205060 GRCh38 Chromosome 22, 37069155: 37069158
22 TMPRSS6 NM_153609.3(TMPRSS6): c.353C> A (p.Ala118Asp) single nucleotide variant Pathogenic rs267607121 GRCh37 Chromosome 22, 37494466: 37494466
23 TMPRSS6 NM_153609.3(TMPRSS6): c.353C> A (p.Ala118Asp) single nucleotide variant Pathogenic rs267607121 GRCh38 Chromosome 22, 37098426: 37098426
24 TMPRSS6 NM_153609.3(TMPRSS6): c.1564G> A (p.Glu522Lys) single nucleotide variant Pathogenic rs387907018 GRCh37 Chromosome 22, 37469590: 37469590
25 TMPRSS6 NM_153609.3(TMPRSS6): c.1564G> A (p.Glu522Lys) single nucleotide variant Pathogenic rs387907018 GRCh38 Chromosome 22, 37073550: 37073550
26 TMPRSS6 NM_153609.3(TMPRSS6): c.1336C> T (p.Arg446Trp) single nucleotide variant Benign/Likely benign rs117576908 GRCh37 Chromosome 22, 37471208: 37471208
27 TMPRSS6 NM_153609.3(TMPRSS6): c.1336C> T (p.Arg446Trp) single nucleotide variant Benign/Likely benign rs117576908 GRCh38 Chromosome 22, 37075168: 37075168
28 TMPRSS6 NM_153609.3(TMPRSS6): c.2217C> T (p.Tyr739=) single nucleotide variant Benign rs2235321 GRCh37 Chromosome 22, 37462926: 37462926
29 TMPRSS6 NM_153609.3(TMPRSS6): c.2217C> T (p.Tyr739=) single nucleotide variant Benign rs2235321 GRCh38 Chromosome 22, 37066886: 37066886
30 TMPRSS6 NM_153609.3(TMPRSS6): c.2207T> C (p.Val736Ala) single nucleotide variant Benign rs855791 GRCh37 Chromosome 22, 37462936: 37462936
31 TMPRSS6 NM_153609.3(TMPRSS6): c.2207T> C (p.Val736Ala) single nucleotide variant Benign rs855791 GRCh38 Chromosome 22, 37066896: 37066896
32 TMPRSS6 NM_153609.3(TMPRSS6): c.1869-6_1869-2delCCCCA deletion Benign rs200434923 GRCh37 Chromosome 22, 37465386: 37465390
33 TMPRSS6 NM_153609.3(TMPRSS6): c.1869-6_1869-2delCCCCA deletion Benign rs200434923 GRCh38 Chromosome 22, 37069346: 37069350
34 TMPRSS6 NM_153609.3(TMPRSS6): c.1563C> T (p.Asp521=) single nucleotide variant Benign rs4820268 GRCh37 Chromosome 22, 37469591: 37469591
35 TMPRSS6 NM_153609.3(TMPRSS6): c.1563C> T (p.Asp521=) single nucleotide variant Benign rs4820268 GRCh38 Chromosome 22, 37073551: 37073551
36 TMPRSS6 NM_153609.3(TMPRSS6): c.1468+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs79816125 GRCh38 Chromosome 22, 37074600: 37074600
37 TMPRSS6 NM_153609.3(TMPRSS6): c.1468+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs79816125 GRCh37 Chromosome 22, 37470640: 37470640
38 TMPRSS6 NM_153609.3(TMPRSS6): c.1254C> T (p.Tyr418=) single nucleotide variant Benign/Likely benign rs881144 GRCh38 Chromosome 22, 37075250: 37075250
39 TMPRSS6 NM_153609.3(TMPRSS6): c.1254C> T (p.Tyr418=) single nucleotide variant Benign/Likely benign rs881144 GRCh37 Chromosome 22, 37471290: 37471290
40 TMPRSS6 NM_153609.3(TMPRSS6): c.1083G> A (p.Ser361=) single nucleotide variant Benign rs2111833 GRCh37 Chromosome 22, 37480797: 37480797
41 TMPRSS6 NM_153609.3(TMPRSS6): c.1083G> A (p.Ser361=) single nucleotide variant Benign rs2111833 GRCh38 Chromosome 22, 37084757: 37084757
42 TMPRSS6 NM_153609.3(TMPRSS6): c.757A> G (p.Lys253Glu) single nucleotide variant Benign rs2235324 GRCh37 Chromosome 22, 37485724: 37485724
43 TMPRSS6 NM_153609.3(TMPRSS6): c.757A> G (p.Lys253Glu) single nucleotide variant Benign rs2235324 GRCh38 Chromosome 22, 37089684: 37089684
44 TMPRSS6 NM_153609.3(TMPRSS6): c.99G> A (p.Pro33=) single nucleotide variant Benign/Likely benign rs11704654 GRCh37 Chromosome 22, 37499386: 37499386
45 TMPRSS6 NM_153609.3(TMPRSS6): c.99G> A (p.Pro33=) single nucleotide variant Benign/Likely benign rs11704654 GRCh38 Chromosome 22, 37103346: 37103346
46 TMPRSS6 NM_153609.3(TMPRSS6): c.15C> T (p.Phe5=) single nucleotide variant Conflicting interpretations of pathogenicity rs115270691 GRCh38 Chromosome 22, 37103525: 37103525
47 TMPRSS6 NM_153609.3(TMPRSS6): c.15C> T (p.Phe5=) single nucleotide variant Conflicting interpretations of pathogenicity rs115270691 GRCh37 Chromosome 22, 37499565: 37499565
48 TMPRSS6 NM_153609.3(TMPRSS6): c.*503C> G single nucleotide variant Uncertain significance rs117575523 GRCh38 Chromosome 22, 37065577: 37065577
49 TMPRSS6 NM_153609.3(TMPRSS6): c.*503C> G single nucleotide variant Uncertain significance rs117575523 GRCh37 Chromosome 22, 37461617: 37461617
50 TMPRSS6 NM_153609.3(TMPRSS6): c.*499C> T single nucleotide variant Uncertain significance rs560949530 GRCh38 Chromosome 22, 37065581: 37065581
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
12.11 ACO1 CAT IREB2 SLC11A2
2
Insulin receptor recycling 66
Show member pathways
 12 SLC11A2 STEAP3 TF TFRC
3
HIF-1 signaling pathway 37
11.54 EPO TF TFRC
4
HIF-1-alpha transcription factor network 1
11.14 EPO TF TFRC
5
African trypanosomiasis 37
11.02 HBA1 HBA2
6
Erythrocytes take up carbon dioxide and release oxygen 66
Show member pathways
 11 HBA1 HBA2
7
HIF-2-alpha transcription factor network 1
10.96 EPO SLC11A2
8
Glyoxylate and dicarboxylate metabolism 37
10.88 ACO1 CAT
9
Ferroptosis 37
10.86 SLC11A2 STEAP3 TF TFRC
10
Iron metabolism in placenta 1
10.18 ACO1 IREB2 SLC11A2 STEAP3 TF TFRC
Sources

GO Terms for Microcytic Anemia

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 recycling endosome GO:0055037 9.61 SLC11A2 TF TFRC
2 extracellular space GO:0005615 9.56 CAT EPO HBA1 HBA2 ST14 TF
3 endocytic vesicle lumen GO:0071682 9.46 HBA1 HBA2
4 endosome membrane GO:0010008 9.46 SLC11A2 STEAP3 TF TFRC
5 basal part of cell GO:0045178 9.4 SLC11A2 TF
6 hemoglobin complex GO:0005833 9.37 HBA1 HBA2
7 haptoglobin-hemoglobin complex GO:0031838 9.32 HBA1 HBA2
8 HFE-transferrin receptor complex GO:1990712 9.26 TF TFRC
9 blood microparticle GO:0072562 8.92 HBA1 HBA2 TF TFRC
10 extracellular region GO:0005576 10.04 CAT EPO HBA1 HBA2 ST14 TF
11 extracellular exosome GO:0070062 10.02 ACO1 CAT HBA1 HBA2 PSMB8 TF

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.77 HBA1 HBA2 TFRC
2 aging GO:0007568 9.75 CAT EPO IREB2
3 cellular oxidant detoxification GO:0098869 9.7 CAT HBA1 HBA2
4 response to hypoxia GO:0001666 9.67 ALAS2 CAT EPO SLC11A2
5 response to hydrogen peroxide GO:0042542 9.65 CAT HBA1 HBA2
6 tricarboxylic acid cycle GO:0006099 9.59 ACO1 IREB2
7 osteoclast differentiation GO:0030316 9.58 IREB2 TFRC
8 heme biosynthetic process GO:0006783 9.57 ALAS2 SLC11A2
9 response to vitamin A GO:0033189 9.56 CAT EPO
10 oxygen transport GO:0015671 9.55 HBA1 HBA2
11 response to hyperoxia GO:0055093 9.54 CAT EPO
12 protoporphyrinogen IX biosynthetic process GO:0006782 9.51 ALAS2 IREB2
13 transferrin transport GO:0033572 9.5 STEAP3 TF TFRC
14 citrate metabolic process GO:0006101 9.49 ACO1 IREB2
15 hemoglobin biosynthetic process GO:0042541 9.46 ALAS2 EPO
16 porphyrin-containing compound metabolic process GO:0006778 9.43 ALAS2 SLC11A2
17 hydrogen peroxide catabolic process GO:0042744 9.43 CAT HBA1 HBA2
18 response to iron(II) ion GO:0010040 9.4 ACO1 IREB2
19 iron ion transport GO:0006826 9.33 IREB2 SLC11A2 TF
20 iron ion homeostasis GO:0055072 9.26 SLC11A2 STEAP3 TF TMPRSS6
21 cellular iron ion homeostasis GO:0006879 9.17 ACO1 ALAS2 IREB2 SLC11A2 TF TFRC

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.61 CAT HBA1 HBA2
2 iron ion binding GO:0005506 9.58 HBA1 HBA2 SLC11A2
3 oxygen binding GO:0019825 9.46 HBA1 HBA2
4 oxygen carrier activity GO:0005344 9.37 HBA1 HBA2
5 organic acid binding GO:0043177 9.32 HBA1 HBA2
6 haptoglobin binding GO:0031720 9.26 HBA1 HBA2
7 aconitate hydratase activity GO:0003994 9.16 ACO1 IREB2
8 peroxidase activity GO:0004601 9.13 CAT HBA1 HBA2
9 iron-responsive element binding GO:0030350 8.62 ACO1 IREB2
Sources

Sources for Microcytic Anemia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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