Microcytic Anemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:11252

MeSH ⁴³ C562385

SNOMED-CT ⁶⁸ 722005000

UMLS ⁷¹ C0085576

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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...

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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:

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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

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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

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Genetic Tests for Microcytic Anemia

Genetic tests related to Microcytic Anemia:

#	Genetic test	Affiliating Genes
1	Microcytic Anemia ²⁸

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Anatomical Context for Microcytic Anemia

Organs/tissues related to Microcytic Anemia:

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

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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	Turro E...Ouwehand WH	32581362	2020
2	Not all DMT1 mutations lead to iron overload. ⁵³ ⁶²	Blanco E...Beaumont C	19553145	2009
3	Exosome secretion, including the DNA damage-induced p53-dependent secretory pathway, is severely compromised in TSAP6/Steap3-null mice. ⁵³ ⁶²	Lespagnol A...Telerman A	18617898	2008
4	A novel beta-Thalassemic allele due to a two nucleotide deletion: beta76 (-GC). ⁵³ ⁶²	Foulon K...Cadet E	17365003	2007
5	Belgrade rats display liver iron loading. ⁵³ ⁶²	Thompson K...Wessling-Resnick M	17116712	2006
6	Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. ⁵³ ⁶²	Beaumont C...Tchernia G	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	Lam-Yuk-Tseung S...Gros P	16584902	2006
8	Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2). ⁵³ ⁶²	Iolascon A...Camaschella C	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	Lam-Yuk-Tseung S...Gros P	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	Lam-Yuk-Tseung S...Gros P	16142913	2005
11	Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2. ⁵³ ⁶²	Cooperman SS...Rouault TA	15831703	2005
12	Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. ⁵³ ⁶²	Mims MP...Prchal JT	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	Tagarelli A...Mosca A	15369716	2004
14	[Conventional and new laboratory parameters in the evaluation of hematologic disease]. ⁵³ ⁶²	Herklotz R...Huber AR	15018392	2004
15	Anemia with erythropoietin deficiency occurs early in diabetic nephropathy. ⁵³ ⁶²	Bosman DR...Watkins PJ	11289474	2001
16	Cellular and subcellular localization of the Nramp2 iron transporter in the intestinal brush border and regulation by dietary iron. ⁵³ ⁶²	Canonne-Hergaux F...Gros P	10361139	1999
17	The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms. ⁵³ ⁶²	Lee PL...Beutler E	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	Cazzola M...Martini A	8639855	1996
19	The molecular basis of the sideroblastic anemias. ⁵³ ⁶²	Fitzsimons EJ...May A	9372069	1996
20	Risk factors and prognostic significance of anemia in children with HIV infection on antiretroviral therapy. ⁶²	Lubega J...Scheurer M	36052537	2022
21	Aluminum overload in the reverse osmosis dialysis era: does it exist? ⁶²	Chen MY...Chen CL	36190833	2022
22	Cerebral Venous Sinus Thrombosis in a Patient With Alcohol Withdrawal Symptoms: A Case Report and Literature Review. ⁶²	Vashi AP...Brown CE	36449713	2022
23	Performance analysis of machine learning algorithms and screening formulae for β-thalassemia trait screening of Indian antenatal women. ⁶²	Das R...Saha S	36174416	2022
24	Double trouble: A case of fraternal twins with iron-refractory iron-deficiency anemia. ⁶²	Malherbe JAJ...Cole CH	36254154	2022
25	Diagnostic dilemma of celiac disease presenting with weight loss and secondary amenorrhea: A case report. ⁶²	Mumtaz A...Yousaf Z	36281172	2022
26	Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant. ⁶²	Gok V...Unal E	36308763	2022
27	Successful control of intestinal bleeding from metastasis of pulmonary pleomorphic carcinoma with pembrolizumab: A case report. ⁶²	Ikushima H...Usui K	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	Sanjeevi N...Freeland-Graves JH	36055958	2022
29	A 7-Year-Old With Persistent Fever and Cough. ⁶²	Vorel ES...Greenfield ME	36017677	2022
30	Stroke propensity in the Th3+/ mouse model of β-thalassemia intermedia. ⁶²	Sun YY...Kuan CY	35753626	2022
31	Anemia in Celiac Disease: Prevalence, Associated Clinical and Laboratory Features, and Persistence after Gluten-Free Diet. ⁶²	Seidita A...Carroccio A	36294721	2022
32	Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay. ⁶²	Al Tuwaijri A...Alfadhel M	35611801	2022
33	Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. ⁶²	Tasdelen E...Pehlivan D	35332675	2022
34	Xanthogranulomatous pyelonephritis in a pediatric patient. ⁶²	Caixeta KEG...Barbosa KCK	33877258	2022
35	Dilemma of identifying congenital hemolytic anemias in primary care. ⁶²	Kleinert D...Seibert DC	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	Tamura K...Yoshida T	35246371	2022
37	New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation. ⁶²	Romero-Cortadellas L...Sanchez M	35457224	2022
38	Familial Adenomatous Polyposis (FAP) Presenting as Iron Deficiency Anemia in a 33-Year-Old Female: A Case Report. ⁶²	Ali A...Ahmed SE	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	Ebrahimpour Sadagheyani H...Shahmirzalou P	35936522	2022
40	Differentiation between Anemia of Chronic Disease and Iron Deficiency Anemia Using Newer Erythrocyte Parameters. ⁶²	Makharia A...Lakhotia M	35443539	2022
41	Diagnostic Workup of Microcytic Anemia. ⁶²	Cadamuro J...Mrazek C	35472855	2022
42	Nutritional imbalances in a Mexican vegan group: urgent need for country-specific dietary guidelines. ⁶²	Espinosa-Marron A...Laviada-Molina H	35012322	2022
43	Clinical spectrum of Celiac Disease in adults at a tertiary care hospital in Karachi, Pakistan. ⁶²	Arshad V...Ismail FW	35480550	2022
44	Alpha- and Beta-thalassemia: Rapid Evidence Review. ⁶²	Baird DC...Sparks SK	35289581	2022
45	The Role of Ferric Nitrilotriacetate in Renal Carcinogenesis and Cell Death: From Animal Models to Clinical Implications. ⁶²	Okazaki Y	35326646	2022
46	Microcytic Anemia: An Insidious Presentation of Sickle Cell Beta+ Thalassemia, a Rare Sickle Cell Variant. ⁶²	Shankar M...Chowdhury T	35449671	2022
47	Assessment of serum endocan levels in patients with beta-thalassemia minor. ⁶²	Khanmammadov N...Cakirca M	35239873	2022
48	36-year-old male with X-linked congenital sideroblastic anemia presenting as chronic microcytic anemia with iron overload. ⁶²	Simpson SJ...Rets A	34783180	2022
49	Anemia of inflammation in patients with colorectal cancer: Correlation with interleukin-1, interleukin-33 and galectin-1. ⁶²	Jocic M...Jovanovic M	35611243	2022
50	Systemic argyria with severe anemia (hemoglobin 2.4 g/L). ⁶²	Chow N...Stetson C	35518817	2022

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Genes for Microcytic Anemia

Genes related to Microcytic Anemia (1 elite genes):

(show all 28)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TMPRSS6	Transmembrane Serine Protease 6	Protein Coding	440.33	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	32581362
2	SLC11A2	Solute Carrier Family 11 Member 2	Protein Coding	45.82	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries Pathways & Interactions (show sections)	16584902 16023393 17116712 (more) 16160008 15459009 16439678 10361139 9642100 19553145 16142913
3	ALAS2	5'-Aminolevulinate Synthase 2	Protein Coding	24.78	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9372069
4	IREB2	Iron Responsive Element Binding Protein 2	Protein Coding	23.1	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
5	TFRC	Transferrin Receptor	Protein Coding	22.54	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15018392 18617898
6	PSMB8	Proteasome 20S Subunit Beta 8	Protein Coding	22.42	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
7	TF	Transferrin	Protein Coding	15.21	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15018392 15831703
8	G6PD	Glucose-6-Phosphate Dehydrogenase	Protein Coding	14.3	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15369716
9	HEPH	Hephaestin	Protein Coding	13.12	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
10	EPO	Erythropoietin	Protein Coding	12.6	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11289474 8639855
11	LPIN2	Lipin 2	Protein Coding	12.4	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
12	HBA2	Hemoglobin Subunit Alpha 2	Protein Coding	12.38	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17365003
13	KARS1	Lysyl-TRNA Synthetase 1	Protein Coding	11.19	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
14	TKFC	Triokinase And FMN Cyclase	Protein Coding	10.5	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
15	HAMP	Hepcidin Antimicrobial Peptide	Protein Coding	7.8	DISEASES inferred ¹⁴
16	CARD10	Caspase Recruitment Domain Family Member 10	Protein Coding	7.44	GeneCards inferred via : Disorders (show sections)
17	HJV	Hemojuvelin BMP Co-Receptor	Protein Coding	7.17	DISEASES inferred ¹⁴
18	ACO1	Aconitase 1	Protein Coding	7.12	DISEASES inferred ¹⁴
19	SLC40A1	Solute Carrier Family 40 Member 1	Protein Coding	6.8	DISEASES inferred ¹⁴
20	CRP	C-Reactive Protein	Protein Coding	6.74	DISEASES inferred ¹⁴
21	TFR2	Transferrin Receptor 2	Protein Coding	6.64	DISEASES inferred ¹⁴
22	FECH	Ferrochelatase	Protein Coding	6.55	DISEASES inferred ¹⁴
23	GLRX5	Glutaredoxin 5	Protein Coding	6.54	DISEASES inferred ¹⁴
24	CYBRD1	Cytochrome B Reductase 1	Protein Coding	6.52	DISEASES inferred ¹⁴
25	HBB	Hemoglobin Subunit Beta	Protein Coding	6.52	DISEASES inferred ¹⁴
26	STEAP3	STEAP3 Metalloreductase	Protein Coding	6.49	DISEASES inferred ¹⁴
27	HFE	Homeostatic Iron Regulator	Protein Coding	6.47	DISEASES inferred ¹⁴
28	SLC11A1	Solute Carrier Family 11 Member 1	Protein Coding	6.42	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Microcytic Anemia

Search GEO for disease gene expression data for Microcytic Anemia.

Sources

Pathways for Microcytic Anemia

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

#	Super pathways	Score	Top Affiliating Genes
1	Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Show member pathways Amino acid transport across the plasma membrane ⁶⁶ Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) ⁶⁶ Defective SLC12A1 causes Bartter syndrome 1 (BS1) ⁶⁶ Defective SLC12A3 causes Gitelman syndrome (GS) ⁶⁶ Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) ⁶⁶ Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) ⁶⁶ Defective SLC17A5 causes Salla disease (SD) and ISSD ⁶⁶ Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) ⁶⁶ Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) ⁶⁶ Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) ⁶⁶ Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) ⁶⁶ Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) ⁶⁶ Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) ⁶⁶ Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) ⁶⁶ Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) ⁶⁶ Defective SLC26A4 causes Pendred syndrome (PDS) ⁶⁶ Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) ⁶⁶ Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) ⁶⁶ Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) ⁶⁶ Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) ⁶⁶ Defective SLC6A5 causes hyperekplexia 3 (HKPX3) ⁶⁶ Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) ⁶⁶ Defective SLC9A9 causes autism 16 (AUTS16) ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Proton-coupled neutral amino acid transporters ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transport of bile salts and organic acids, metal ions and amine compounds ⁶⁶ Transport of small molecules ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶ Variant SLC6A14 may confer susceptibility towards obesity ⁶⁶	13.16	TFRC TF SLC40A1 SLC11A2 PSMB8 IREB2
2	Glucose / Energy Metabolism ³	12.24	SLC11A2 IREB2 G6PD ACO1
3	Disorders of transmembrane transporters ⁶⁶ Show member pathways SLC transporter disorders ⁶⁶	12.17	SLC40A1 SLC11A2 PSMB8 HEPH
4	Metal ion SLC transporters ⁶⁶ Show member pathways Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ) ⁶⁶ Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) ⁶⁶ Metallothioneins bind metals ⁶⁶ MTF1 activates gene expression ⁶⁶ Response to metal ions ⁶⁶ Zinc efflux and compartmentalization by the SLC30 family ⁶⁶ Zinc homeostasis ⁷⁴ Zinc influx into cells by the SLC39 gene family ⁶⁶ Zinc transporters ⁶⁶	11.74	SLC40A1 SLC11A2 HEPH
5	3q29 copy number variation syndrome ⁷⁴	11.42	HAMP SLC40A1 TF TFRC
6	Insulin receptor recycling ⁶⁶ Show member pathways ATP biosynthesis ⁶¹ Events associated with phagocytolytic activity of PMN cells ⁶⁶ Iron uptake and transport ⁶⁶ melatonin degradation III ⁶¹ ROS and RNS production in phagocytes ⁶⁶ Transferrin endocytosis and recycling ⁶⁶	11.4	TFRC TF SLC40A1 SLC11A2 IREB2 HEPH
7	HIF-1-alpha transcription factor network ⁶¹	11.39	TFRC TF EPO
8	Ferroptosis ⁷⁴	11.36	TFRC TF SLC40A1 SLC11A2 IREB2
9	Hfe effect on hepcidin production ⁷⁴	10.28	TMPRSS6 HJV HAMP
10	Iron metabolism in placenta ⁷⁴	10.16	SLC40A1 SLC11A2 IREB2 ACO1

Sources

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

Sources for Microcytic Anemia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: MCR018 MIFTS: 47	Microcytic Anemia Categories: Blood diseases	Data Licensing For inquiries, contact: [email protected]
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