IRIDA syndrome

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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 9 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 28447549
 A child with severe iron-deficiency anemia and a complex TMPRSS6 genotype.
Capra AP, Ferro E, Cannavo L, La Rosa MA, Zirilli G.
Hematology. 2017;22(9):559-564.
Iron deficiency anemia
HAMP TMPRSS6
Amino Acid Substitution Biological Markers Child Erythrocyte Indices Females Genetic Association Studies Genetic Predisposition to Disease Genotype Homo sapiens Membrane Proteins Mutation Sequence Analysis, DNA Serine Endopeptidases Severity of Illness Index Single Nucleotide Polymorphism
1
(4.0%)		 27365303
 Iron-Refractory Iron Deficiency Anemia May Not Lead to Neurocognitive Dysfunction: A Case Report.
Arsenault V, Mailloux C, Bonnefoy A, Lemyre E, Pastore Y.
Pediatrics. 2016;138(1):.
Pallor
HAMP TMPRSS6
c|SUB|G|1324|A;RS#:137853119 c|SUB|G|1807|C;RS#:769083817
Child, Preschool Homo sapiens Male Neurocognitive Disorders Neuropsychological Tests
1
(4.0%)		 27103977
(4815946)
 Coexistence of Essential Thrombocythemia, Iron-Refractory Iron Deficiency Anemia and Renal Cell Carcinoma.
Namdaroglu S, Tekgunduz E, Altuntas F.
Hematol Rep. 2016;8(1):6235.
Iron deficiency anemia
JAK2 TMPRSS6
1
(4.0%)		 26339443
 An unusual case of iron deficiency anemia is associated with extremely low level of transferrin receptor.
Hao S, Li H, Sun X, Li J, Li K.
Int J Clin Exp Pathol. 2015;8(7):8613-8.
Iron deficiency anemia
HAMP TF
Administration, Oral Biological Markers Down-Regulation Females Homo sapiens Transferrin Receptor
1
(4.0%)		 25252070
 Novel mutation in the TMPRSS6 gene with iron-refractory iron deficiency anemia.
Kodama K, Noguchi A, Adachi H, Hebiguchi M, Yano M, Takahashi T.
Pediatr Int. 2014;56(4):e41-4.
Anemia
HAMP TF TMPRSS6
p|SUB|P|354|L;RS#:762921295
Child Females Homo sapiens Membrane Proteins Mutation Serine Endopeptidases
1
(4.0%)		 24985168
 [Identification and characterization of clinical features and gene mutation in a patient with iron refractory iron deficiency anemia (IRIDA)].
Xiong Y, Yang W, Li Y, Peng G, Li Y, Fan H, Ye L, Song L, Zhao X, Li J, Jing L, Zhang L, Zhou K, Xu Y, Zhang F.
Zhonghua Xue Ye Xue Za Zhi. 2014;35(6):486-90.
Hypochromic anemia
HAMP TF TMPRSS6
p|SUB|K|253|E;RS#:2235324
Females Homo sapiens Membrane Proteins Mutation Serine Endopeptidases Tertiary Protein Structure Young Adult
1
(4.0%)		 23319530
 Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy.
Khuong-Quang DA, Schwartzentruber J, Westerman M, Lepage P, Finberg KE, Majewski J, Jabado N.
Pediatrics. 2013;131(2):e620-5.
Iron deficiency anemia
TMPRSS6
p|SUB|E|522|K;RS#:387907018 p|SUB|G|442|R;RS#:137853119
Administration, Oral Child Child, Preschool Chromosome Aberrations DNA Mutational Analysis Exome Females Ferritin Follow-Up Studies Genetic Carrier Screening Genotype Homo sapiens Male Membrane Proteins Missense Mutation Serine Endopeptidases
1
(4.0%)		 22169218
 Responsiveness to oral iron and ascorbic acid in a patient with IRIDA.
Cau M, Galanello R, Giagu N, Melis MA.
Blood Cells Mol Dis. 2012;48(2):121-3.
Hypochromic microcytic anemia
TMPRSS6
Administration, Oral Erythrocyte Indices Females Homo sapiens Infant Membrane Proteins Mutation Serine Endopeptidases
1
(4.0%)		 21618415
 A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia.
Choi HS, Yang HR, Song SH, Seo JY, Lee KO, Kim HJ.
Pediatr Blood Cancer. 2012;58(4):640-2.
Hypochromic microcytic anemia
HAMP HJV TF TMPRSS6
c|SUB|G|1807|C;RS#:769083817 c|SUB|G|863+1|T;RS#:757356137 c|SUB|G|IVS6+1|T p|SUB|G|603|R;RS#:769083817
Amino Acid Substitution Antimicrobial Cationic Peptides Asians Child Females GPI-Linked Proteins Genetic Diseases, Inborn Hemochromatosis Protein Homo sapiens Membrane Proteins Missense Mutation RNA Splice Sites Serine Endopeptidases South Korea Transcription, Genetic
        

Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0000962 Hyperkeratosis Very frequent (99-80%)
HP:0000980 Pallor Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0002242 Abnormal intestine morphology Very frequent (99-80%)
HP:0008064 Ichthyosis Very frequent (99-80%)
HP:0009830 Peripheral neuropathy Very frequent (99-80%)
HP:0001406 Intrahepatic cholestasis Frequent (79-30%)
HP:0011967 Decreased circulating copper concentration Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0001891 Iron deficiency anemia 2
HP:0004840 Hypochromic microcytic anemia 2


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
TMPRSS6 transmembrane serine protease 6 164656