Irida Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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.

Genes related to Irida Syndrome

TMPRSS6

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Irida Syndrome

Intellectual disability
Anemia
Peripheral neuropathy
Fatigue
Hyperkeratosis
Pallor
Malabsorption
Ichthyosis
Abnormal intestine morphology
Microcytic anemia

And another 10 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Irida Syndrome Is also known as anemia, hypochromic microcytic, with defect in iron metabolism, iron-refractory iron deficiency anemia, pseudo-iron-deficiency anemia, iron-handling disorder, hereditary.

Researches and researchers

Doctors, researchs, and experts related to Irida Syndrome extracted from public data.

Irida Syndrome Experts map

Current Researchs and researchers

BRESCIA — Dr Maura POLI
Investigator of research project
- Institution/s:
  — Dipartimento Scienze Mediche e Chirurgiche - Clinica Medica - Medicina 1 e 2, ASST Spedali Civili di Brescia
- Research area/topic::
  Novel pharmacologic approaches to hepcidin genetic disorders

LISBOA — Dr Paula FAUSTINO
Investigator of research project
- Institution/s:
  — Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
- Research area/topic::
  Non-classical hereditary hemochromatosis and other rare genetic diseases associated with disorders in iron homeostasis

Irida Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TMPRSS6. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). TMPRSS6 Specificity 100 % Genes 100 %
Iron-refractory iron deficiency anemia (sequence analysis of TMPRSS6 gene). By CGC Genetics (Portugal). TMPRSS6 Specificity 100 % Genes 100 %
Iron-Refractory Iron Deficiency Anemia (IRIDA) via TMPRSS6 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). TMPRSS6 Specificity 100 % Genes 100 %
Iron-refractory iron deficiency anemia. By Centogene AG - the Rare Disease Company (Germany). TMPRSS6 Specificity 100 % Genes 100 %
IRIDA, iron-refractory iron deficient anemia. By BLOODGENETICS BLOODGENETICS (Spain). TMPRSS6 Specificity 100 % Genes 100 %
NGS Panel for Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2). By BLOODGENETICS BLOODGENETICS (Spain). SLC11A2, TF, TMPRSS6, ACVR1, CP, STEAP3, ATP4A, ATP7B Specificity 13 % Genes 100 %
TMPRSS6. By Fulgent Genetics Fulgent Genetics (United States). TMPRSS6 Specificity 100 % Genes 100 %
Comprehensive Hematology Panel. By Blueprint Genetics (Finland). RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RUNX1, BLM, SEC23B, SFTPB, SFTPC, SH2D1A, SLC19A2, BRAF , (...) View the complete list with 218 more genes Panel complete gene list RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RUNX1, BLM, SEC23B, SFTPB, SFTPC, SH2D1A, SLC19A2, BRAF, BRCA1, BRCA2, SMARCD2, SOS1, SPTA1, SPTB, SRC, SRP72, STX11, STXBP2, EPCAM, TBXA2R, TCN2, TERC, TERT, TF, THBD, THPO, TINF2, FAS, FASLG, TP53, TPI1, EGLN1, TYR, TYRP1, VWF, WAS, WIPF1, WDR1, XRCC2, IKZF1, ACTB, SAMD9, SAMD9L, ADAMTS13, ABCG5, ABCG8, MRTFA, NHP2, NOP10, LPIN2, VPS45, AMN, CBL, PUS1, HPS3, HPS4, RTEL1, TUBB1, ACTN1, SLC45A2, TMPRSS6, HAX1, HPS5, CDAN1, DTNBP1, TRNT1, DCLRE1B, NT5C3A, CDKN2A, P2RY12, CEBPA, MCFD2, DDX41, HPS6, MASTL, SBDS, LYST, CYCS, GPR143, CLCN7, BRIP1, FANCL, BLOC1S3, PDHX, VPS13B, UNC13D, FANCM, VKORC1, SLX4, YARS2, CSF2RA, CSF3R, G6PC3, ACD, CTSC, CUBN, WRAP53, FANCI, CXCR4, USB1, SLC25A38, PALB2, CTC1, RNF168, ERCC6L2, JAGN1, C15orf41, DNAJC21, DHFR, CYB5R3, MAGT1, DKC1, GINS1, PIEZO1, ANKRD26, LAMTOR2, SLC46A1, CLPB, NBEAL2, SLFN14, ABCA3, ELANE, EPAS1, EPB41, EPB42, EPOR, ERCC4, ETV6, MECOM, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, AK2, FGA, FGB, FGG, FLI1, FLNA, ALAS2, FYB1, G6PD, SLC37A4, GATA1, GATA2, GFI1, GFI1B, GGCX, GP1BA, GP1BB, GP9, GPI, GSS, ABCB7, HBA1, HBA2, HBB, HFE, ANK1, HOXA11, HPS1, HRAS, IFNGR2, AP3B1, AP3D1, XIAP, ITGA2, ITGA2B, ITGB3, ITK, JAK2, KLF1, KRAS, LMAN1, MAP2K1, MAP2K2, ARPC1B, MLH1, MPL, MSH2, MSH6, MTHFD1, MTR, MYH9, MYO5A, NBN, SERPINC1, NF1, ATM, NRAS, OCA2, BLOC1S6, PARN, PAX5, PC, PDHA1, ATR, ATRX, PGM3, PKLR, PMS2, PRF1, PRKACG, PROC, PROS1, PTPN11, RAB27A, RAC2, RAD51C, RBM8A, RECQL4, REN Specificity 1 % Genes 100 %