IRIDA
MCID: IRN004
MIFTS: 38

Iron-Refractory Iron Deficiency Anemia (IRIDA) malady

Categories: Genetic diseases, Rare diseases, Blood diseases, Metabolic diseases

Aliases & Classifications for Iron-Refractory Iron Deficiency Anemia

Aliases & Descriptions for Iron-Refractory Iron Deficiency Anemia:

Name: Iron-Refractory Iron Deficiency Anemia 54 50 24 25 56 66 13 69
Irida 50 24 25 66
Irida Syndrome 50 25 56
Anemia, Hypochromic Microcytic, with Defect in Iron Metabolism 50 25
Iron-Handling Disorder, Hereditary 50 25
Pseudo-Iron-Deficiency Anemia 50 66
Hypochromic Microcytic Anemia with Defect in Iron Metabolism 66
Hereditary Iron-Handling Disorder 66

Characteristics:

Orphanet epidemiological data:

56
irida syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
iron-refractory iron deficiency anemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 206200
Orphanet 56 ORPHA209981
ICD10 via Orphanet 34 D50.8
MedGen 40 C0085576

Summaries for Iron-Refractory Iron Deficiency Anemia

NIH Rare Diseases : 50 iron-refractory iron deficiency anemia (irida) is a condition characterized by iron deficiency anemia (ida) that is unresponsive to oral iron treatment but partially responsive to parenteral iron therapy (provided by injection or i.v.). it is currently unclear whether affected individuals are iron-deficient at birth; iron transfer in utero may be normal with depletion of iron stores occurring after birth. despite laboratory evidence of severe iron deficiency, signs and symptoms of iron deficiency have been noted in only some of the reported cases and have included pallor, dry skin, and lesions at the corners of the mouth. growth and development is reportedly normal. irida is caused by mutations in the tmprss6 gene and is inherited in an autosomal recessive manner. last updated: 4/15/2013

MalaCards based summary : Iron-Refractory Iron Deficiency Anemia, also known as irida, is related to microcytic anemia and deficiency anemia, and has symptoms including intellectual disability, ichthyosis and pallor. An important gene associated with Iron-Refractory Iron Deficiency Anemia is TMPRSS6 (Transmembrane Protease, Serine 6), and among its related pathways/superpathways is Hfe effect on hepcidin production. The drugs Iron and Chelating Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotype is liver/biliary system.

Genetics Home Reference : 25 Iron-refractory iron deficiency anemia is one of many types of anemia, which is a group of conditions characterized by a shortage of healthy red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues.

UniProtKB/Swiss-Prot : 66 Iron-refractory iron deficiency anemia: Key features include congenital hypochromic microcytic anemia, very low mean corpuscular erythrocyte volume, low transferrin saturation, abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron, and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron.

Description from OMIM: 206200

Related Diseases for Iron-Refractory Iron Deficiency Anemia

Diseases related to Iron-Refractory Iron Deficiency Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
id Related Disease Score Top Affiliating Genes
1 microcytic anemia 11.4
2 deficiency anemia 10.6
3 iron deficiency anemia 10.6
4 renal cell carcinoma 9.9
5 essential thrombocythemia 9.9
6 nasu-hakola disease 9.9 HFE2 TMPRSS6
7 post-thrombotic syndrome 9.8 EPO HFE2
8 cat-scratch disease 9.7 EPO TMPRSS6
9 neuronal ceroid-lipofuscinoses 9.6 EPO HFE2 TMPRSS6
10 optic atrophy 5 9.4 EPO HFE2 TMPRSS11A TMPRSS6
11 blind hypotensive eye 9.4 EPO HFE2 TMPRSS11A TMPRSS6

Graphical network of the top 20 diseases related to Iron-Refractory Iron Deficiency Anemia:



Diseases related to Iron-Refractory Iron Deficiency Anemia

Symptoms & Phenotypes for Iron-Refractory Iron Deficiency Anemia

Symptoms by clinical synopsis from OMIM:

206200

Clinical features from OMIM:

206200

Human phenotypes related to Iron-Refractory Iron Deficiency Anemia:

56 32 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
2 ichthyosis 56 32 Very frequent (99-80%) HP:0008064
3 pallor 56 32 Very frequent (99-80%) HP:0000980
4 hyperkeratosis 56 32 Very frequent (99-80%) HP:0000962
5 peripheral neuropathy 56 32 Very frequent (99-80%) HP:0009830
6 abnormality of the intestine 56 32 Very frequent (99-80%) HP:0002242
7 intrahepatic cholestasis 56 32 Frequent (79-30%) HP:0001406
8 hypocupremia 56 32 Frequent (79-30%) HP:0011967
9 iron deficiency anemia 32 HP:0001891
10 hypochromic microcytic anemia 32 HP:0004840

MGI Mouse Phenotypes related to Iron-Refractory Iron Deficiency Anemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.8 EPO HFE2 TMPRSS6

Drugs & Therapeutics for Iron-Refractory Iron Deficiency Anemia

Drugs for Iron-Refractory Iron Deficiency Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2,Phase 1 7439-89-6 23925
2 Chelating Agents Phase 2,Phase 1
3 Trace Elements Phase 2,Phase 1
4 Pharmaceutical Solutions Phase 2,Phase 1
5 Anticoagulants Phase 2,Phase 1
6 Micronutrients Phase 2,Phase 1
7 Calcium, Dietary Phase 2,Phase 1
8 Citrate Nutraceutical Phase 2,Phase 1
9
Citric Acid Nutraceutical, Vet_approved Phase 2,Phase 1 77-92-9 311
10 Iron Supplement Nutraceutical Phase 2,Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Triferic IRIDA Protocol Not yet recruiting NCT02905981 Phase 2
2 Pharmacokinetics and Absolute Bioavailability of Fer-In-Sol and Triferic Administered Orally With Shohl's Solution in Healthy Volunteers Completed NCT02767128 Phase 1
3 Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter Recruiting NCT00481221

Search NIH Clinical Center for Iron-Refractory Iron Deficiency Anemia

Genetic Tests for Iron-Refractory Iron Deficiency Anemia

Genetic tests related to Iron-Refractory Iron Deficiency Anemia:

id Genetic test Affiliating Genes
1 Iron-Refractory Iron Deficiency Anemia 24 TMPRSS6

Anatomical Context for Iron-Refractory Iron Deficiency Anemia

MalaCards organs/tissues related to Iron-Refractory Iron Deficiency Anemia:

39
Skin

Publications for Iron-Refractory Iron Deficiency Anemia

Articles related to Iron-Refractory Iron Deficiency Anemia:

(show all 24)
id Title Authors Year
1
Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child. ( 28460265 )
2017
2
Iron Refractory Iron Deficiency Anemia in Dizygotic Twins Due to a Novel TMPRSS6 Gene Mutation in Addition to Polymorphisms Associated With High Susceptibility to Develop Ferropenic Anemia. ( 28491880 )
2017
3
Iron Refractory Iron Deficiency Anemia (IRIDA): A heterogeneous disease that is not always iron refractory. ( 27643674 )
2016
4
Iron-Refractory Iron Deficiency Anemia May Not Lead to Neurocognitive Dysfunction: A Case Report. ( 27365303 )
2016
5
Coexistence of Essential Thrombocythemia, Iron-Refractory Iron Deficiency Anemia and Renal Cell Carcinoma. ( 27103977 )
2016
6
Iron-refractory iron deficiency anemia (IRIDA) cases with 2 novel TMPRSS6 mutations. ( 27120435 )
2016
7
Response to parenteral iron therapy distinguish unexplained refractory iron deficiency anemia from iron-refractory iron deficiency anemia. ( 26818204 )
2016
8
Iron-Refractory Iron Deficiency Anemia. ( 25805669 )
2015
9
Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia. ( 25588876 )
2015
10
Novel mutation in the TMPRSS6 gene with iron-refractory iron deficiency anemia. ( 25252070 )
2014
11
Iron-refractory iron deficiency anemia (IRIDA). ( 25064705 )
2014
12
Functional and clinical impact of novel tmprss6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies. ( 25156943 )
2014
13
Responsiveness to Parenteral Iron Therapy in Children with Oral Iron-Refractory Iron-Deficiency Anemia. ( 24087940 )
2013
14
Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients. ( 23180434 )
2013
15
Iron refractory iron deficiency anemia. ( 23729726 )
2013
16
Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy. ( 23319530 )
2013
17
A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron- refractory iron deficiency anemia. ( 21618415 )
2012
18
Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia. ( 21643693 )
2011
19
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA). ( 20232450 )
2010
20
Iron-refractory iron deficiency anemia. ( 19786206 )
2009
21
Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia. ( 19357398 )
2009
22
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. ( 19592582 )
2009
23
Iron-refractory iron deficiency anemia: new molecular mechanisms. ( 19776721 )
2009
24
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). ( 18408718 )
2008

Variations for Iron-Refractory Iron Deficiency Anemia

UniProtKB/Swiss-Prot genetic disease variations for Iron-Refractory Iron Deficiency Anemia:

66 (show all 25)
id Symbol AA change Variation ID SNP ID
1 TMPRSS6 p.Gly442Arg VAR_044435 rs137853119
2 TMPRSS6 p.Asp521Asn VAR_044436 rs137853120
3 TMPRSS6 p.Arg774Cys VAR_044437 rs776069764
4 TMPRSS6 p.Tyr141Cys VAR_064075
5 TMPRSS6 p.Ile212Thr VAR_064076 rs776877803
6 TMPRSS6 p.Arg271Gln VAR_064077 rs776180387
7 TMPRSS6 p.Ser304Leu VAR_064078
8 TMPRSS6 p.Cys510Ser VAR_064079
9 TMPRSS6 p.Glu114Lys VAR_068665 rs199474803
10 TMPRSS6 p.Ala118Asp VAR_068666 rs267607121
11 TMPRSS6 p.Leu235Pro VAR_068668 rs199474802
12 TMPRSS6 p.Tyr418Cys VAR_068669 rs199474804
13 TMPRSS6 p.Glu522Lys VAR_068671 rs387907018
14 TMPRSS6 p.Gly603Arg VAR_068672 rs769083817
15 TMPRSS6 p.Pro765Ala VAR_068674 rs199474805
16 TMPRSS6 p.Trp247Cys VAR_072901
17 TMPRSS6 p.Thr287Asn VAR_072902
18 TMPRSS6 p.Cys335Phe VAR_072903
19 TMPRSS6 p.Cys510Arg VAR_072904
20 TMPRSS6 p.Asp521Gly VAR_072905
21 TMPRSS6 p.Trp590Arg VAR_072906 rs770897887
22 TMPRSS6 p.Arg597Trp VAR_072907 rs773272073
23 TMPRSS6 p.Ala605Gly VAR_072908
24 TMPRSS6 p.Leu606Arg VAR_072909
25 TMPRSS6 p.Ser623Thr VAR_072910

ClinVar genetic disease variations for Iron-Refractory Iron Deficiency Anemia:

6 (show all 13)
id 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.1813delG (p.Ala605Profs) deletion Pathogenic rs786205057 GRCh37 Chromosome 22, 37466579: 37466579
3 TMPRSS6 NM_153609.3(TMPRSS6): c.1582+1G> A single nucleotide variant Pathogenic rs786205058 GRCh37 Chromosome 22, 37469571: 37469571
4 TMPRSS6 NM_153609.3(TMPRSS6): c.2140+1G> C single nucleotide variant Pathogenic rs786205059 GRCh37 Chromosome 22, 37465112: 37465112
5 TMPRSS6 NM_153609.3(TMPRSS6): c.1324G> A (p.Gly442Arg) single nucleotide variant Pathogenic rs137853119 GRCh37 Chromosome 22, 37471220: 37471220
6 TMPRSS6 NM_153609.3(TMPRSS6): c.1561G> A (p.Asp521Asn) single nucleotide variant Pathogenic rs137853120 GRCh37 Chromosome 22, 37469593: 37469593
7 TMPRSS6 NM_153609.3(TMPRSS6): c.1065C> A (p.Tyr355Ter) single nucleotide variant Pathogenic rs137853121 GRCh37 Chromosome 22, 37480815: 37480815
8 TMPRSS6 TMPRSS6, 1-BP DEL, 1383A deletion Pathogenic
9 TMPRSS6 NM_153609.3(TMPRSS6): c.1179T> G (p.Tyr393Ter) single nucleotide variant Pathogenic rs137853122 GRCh37 Chromosome 22, 37480379: 37480379
10 TMPRSS6 NM_153609.3(TMPRSS6): c.1795C> T (p.Arg599Ter) single nucleotide variant Pathogenic rs137853123 GRCh37 Chromosome 22, 37466597: 37466597
11 TMPRSS6 NM_153609.3(TMPRSS6): c.2055_2058dupCCCC (p.Val687Profs) duplication Pathogenic rs786205060 GRCh37 Chromosome 22, 37465195: 37465198
12 TMPRSS6 NM_153609.3(TMPRSS6): c.353C> A (p.Ala118Asp) single nucleotide variant Pathogenic rs267607121 GRCh37 Chromosome 22, 37494466: 37494466
13 TMPRSS6 NM_153609.3(TMPRSS6): c.1564G> A (p.Glu522Lys) single nucleotide variant Pathogenic rs387907018 GRCh37 Chromosome 22, 37469590: 37469590

Expression for Iron-Refractory Iron Deficiency Anemia

Search GEO for disease gene expression data for Iron-Refractory Iron Deficiency Anemia.

Pathways for Iron-Refractory Iron Deficiency Anemia

Pathways related to Iron-Refractory Iron Deficiency Anemia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 9.47 HFE2 TMPRSS6

GO Terms for Iron-Refractory Iron Deficiency Anemia

Cellular components related to Iron-Refractory Iron Deficiency Anemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 8.8 EPO HFE2 TMPRSS6

Biological processes related to Iron-Refractory Iron Deficiency Anemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.43 EPO HFE2 TMPRSS6
2 cellular iron ion homeostasis GO:0006879 9.16 HFE2 TMPRSS6
3 negative regulation of BMP signaling pathway GO:0030514 8.96 HFE2 TMPRSS6
4 iron ion homeostasis GO:0055072 8.62 HFE2 TMPRSS6

Molecular functions related to Iron-Refractory Iron Deficiency Anemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.96 TMPRSS11A TMPRSS6
2 serine-type peptidase activity GO:0008236 8.62 TMPRSS11A TMPRSS6

Sources for Iron-Refractory Iron Deficiency Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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33 ICD10
34 ICD10 via Orphanet
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43 MESH via Orphanet
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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