Details of Disease

General Information of Disease (ID: DISPN8YW)

Disease Name IRIDA syndrome
Synonyms
IRIDA; pseudo-iron-deficiency Anemia; iron-handling disorder, hereditary; pseudo-iron-deficiency Anaemia; anemia, hypochromic microcytic, with defect in iron metabolism; iron-refractory iron deficiency anaemia; iron-refractory iron deficiency anemia; IRIDA syndrome
Definition
IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.
Disease Hierarchy
DISQL71U: Inherited deficiency anemia
DISMM9CH: Microcytic anemia
DISPN8YW: IRIDA syndrome
Disease Identifiers
MONDO ID
MONDO_0008788
MESH ID
C562385
UMLS CUI
C0085576
OMIM ID
206200
MedGen ID
39081
Orphanet ID
209981
SNOMED CT ID
722005000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ACVR1 TTJNBQA Limited Biomarker [1]
TMPRSS6 TTL9KE7 Limited Genetic Variation [2]
DNM2 TTVRA5G Strong Biomarker [3]
HAMP TTRV5YJ Strong Biomarker [4]
HBA2 TTQO71U Strong Genetic Variation [5]
TMPRSS6 TTL9KE7 Definitive Autosomal recessive [6]
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⏷ Show the Full List of 6 DTT(s)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC25A38 DTV8SWX Strong Genetic Variation [7]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
ALAS2 DE437BY Strong Genetic Variation [7]
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This Disease Is Related to 13 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACO1 OT2VUR7L Limited Biomarker [8]
BDH2 OTDD7G8S Limited Biomarker [9]
ERFE OTSES1HA Limited Altered Expression [10]
HBG2 OT4J48JJ Limited Biomarker [11]
PCBP1 OTHN0TD7 Limited Biomarker [10]
TFR2 OTMYCCEO Limited Genetic Variation [12]
HBA1 OTW2BQF4 Strong Genetic Variation [5]
HJV OT4235J2 Strong Genetic Variation [13]
IREB2 OT747D24 Strong Biomarker [8]
LPIN2 OTRRTMXX Strong Biomarker [14]
STEAP3 OTS9GZK5 Strong Biomarker [15]
TMPRSS6 OTA17R1M Definitive Autosomal recessive [6]
TRNT1 OTD57ILL Definitive Genetic Variation [7]
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⏷ Show the Full List of 13 DOT(s)

References

1 A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.Blood. 2017 Jun 22;129(25):3392-3395. doi: 10.1182/blood-2017-03-773481. Epub 2017 May 5.
2 Iron Refractory Iron Deficiency Anemia Due to 374 Base Pairs Deletion in the TMPRSS6 Gene.J Pediatr Hematol Oncol. 2019 Jul;41(5):e333-e335. doi: 10.1097/MPH.0000000000001298.
3 Loss of Dynamin 2 GTPase function results in microcytic anaemia.Br J Haematol. 2017 Aug;178(4):616-628. doi: 10.1111/bjh.14709. Epub 2017 May 3.
4 Regulators of hepcidin expression.Vitam Horm. 2019;110:101-129. doi: 10.1016/bs.vh.2019.01.005. Epub 2019 Feb 2.
5 Alpha-globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran.J Clin Lab Anal. 2020 Jan;34(1):e23018. doi: 10.1002/jcla.23018. Epub 2019 Sep 2.
6 Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet. 2008 May;40(5):569-71. doi: 10.1038/ng.130. Epub 2008 Apr 13.
7 Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.Br J Haematol. 2019 Nov;187(4):530-542. doi: 10.1111/bjh.16100. Epub 2019 Jul 23.
8 Methods for Studying Iron Regulatory Protein 1: An Important Protein in Human Iron Metabolism.Methods Enzymol. 2018;599:139-155. doi: 10.1016/bs.mie.2017.09.006. Epub 2017 Dec 6.
9 Endogenous siderophore 2,5-dihydroxybenzoic acid deficiency promotes anemia and splenic iron overload in mice.Mol Cell Biol. 2014 Jul;34(13):2533-46. doi: 10.1128/MCB.00231-14. Epub 2014 Apr 28.
10 PCBP1 and NCOA4 regulate erythroid iron storage and heme biosynthesis.J Clin Invest. 2017 May 1;127(5):1786-1797. doi: 10.1172/JCI90519. Epub 2017 Apr 4.
11 Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.Ann Hematol. 2019 Jul;98(7):1537-1545. doi: 10.1007/s00277-019-03696-w. Epub 2019 Apr 25.
12 A competitive enzyme-linked immunosorbent assay specific for murine hepcidin-1: correlation with hepatic mRNA expression in established and novel models of dysregulated iron homeostasis.Haematologica. 2015 Feb;100(2):167-77. doi: 10.3324/haematol.2014.116723. Epub 2014 Nov 25.
13 A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia.Pediatr Blood Cancer. 2012 Apr;58(4):640-2. doi: 10.1002/pbc.23190. Epub 2011 May 25.
14 Efficacy of anti-IL-1 treatment in Majeed syndrome.Ann Rheum Dis. 2013 Mar;72(3):410-3. doi: 10.1136/annrheumdis-2012-201818. Epub 2012 Oct 20.
15 A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene. Blood. 2011 Dec 15;118(25):6660-6. doi: 10.1182/blood-2011-01-329011. Epub 2011 Oct 26.