TFR2 gene related symptoms and diseases
All the information presented here about the TFR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TFR2 gene
Symptoms // Phenotype | % Cases |
---|---|
Pain | Very Common - Between 80% and 100% cases |
Neutropenia | Very Common - Between 80% and 100% cases |
Increased serum ferritin | Very Common - Between 80% and 100% cases |
Impotence | Very Common - Between 80% and 100% cases |
Purpura | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TFR2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypogonadotrophic hypogonadism
- Lymphopenia
- Hyperpigmentation of the skin
- Amenorrhea
- Cirrhosis
- Anemia
- Abnormality of the liver
- Arthritis
And 6 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TFR2 gene
Here you will find a list of rare diseases related to the TFR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEMOCHROMATOSIS TYPE 3
Alternate names
HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis, hemochromatosis due to defect in transferrin receptor 2
Description
Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
Most common symptoms of HEMOCHROMATOSIS TYPE 3
- Pain
- Anemia
- Fatigue
- Cardiomyopathy
- Abdominal pain
Search interest in TFR2
Potential gene panels for TFR2 gene
TFR2 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the TFR2 gene.
More info about this panelHyperferritinemia Panel Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Hyperferritinemia Panel that also includes the following genes: SEC23B SLC40A1 TF TFR2 HAMP CDAN1 CP STEAP3 SLC25A38 ALAS2
More info about this panelTFR2. Detection of the mutations p.Arg30ProfsX31, p.Met172Lys, p.Tyr250X and p.Ala621_Gln624del by sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TFR2 gene.
More info about this panelTFR2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TFR2 gene.
More info about this panelHemochromatosis (sequence analysis of TFR2 gene) Panel
By CGC Genetics
This panel specifically test the TFR2 gene.
More info about this panelHemochromatosis (NGS panel for 8 genes) Panel
By CGC Genetics Hemochromatosis (NGS panel for 8 genes) that also includes the following genes: BMP2 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV
More info about this panelHemochromatosis (NGS panel for 8 genes) Panel
By CGC Genetics Hemochromatosis (NGS panel for 8 genes) that also includes the following genes: BMP2 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV
More info about this panelHereditary Hemochromatosis Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Hemochromatosis Sequencing Panel with CNV Detection that also includes the following genes: SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV
More info about this panelHereditary Hemochromatosis via TFR2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the TFR2 gene.
More info about this panelHemochromatosis Panel
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Hemochromatosis that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV
More info about this panelHemochromatosis type 3 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the TFR2 gene.
More info about this panelTFR2-Related Hereditary Hemochromatosis Panel
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the TFR2 gene.
More info about this panelGenetic disorders with abnormal pigmentation Panel Panel
By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST
More info about this panelHaemochromatosis Panel
By Laboratory of Human Genetics GENOMED Health Care Center Haemochromatosis that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV
More info about this panelTFR2-Related Hereditary Hemochromatosis (HH type 3, HFE3) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the TFR2 gene.
More info about this panelHemochromatosis Panel
By Asper Biogene Asper Biogene LLC Hemochromatosis that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV
More info about this panelNGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel Panel
By BLOODGENETICS BLOODGENETICS NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel that also includes the following genes: BMP6 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV ATP4A
More info about this panelTFR2-Related Hereditary Hemochromatosis Panel
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the TFR2 gene.
More info about this panelHemochromatosis Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the TFR2 gene.
More info about this panelqCarrier Plus Panel
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panelHemochromatosis Panel
By MedGene
This panel specifically test the TFR2 gene.
More info about this panelInvitae Hereditary Hemochromatosis Panel Panel
By Invitae Invitae Hereditary Hemochromatosis Panel that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV
More info about this panelHemochromatosis type 3, Hereditary: TFR2 gene, Y250X mutation Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TFR2 gene.
More info about this panelHemochromatosis type 3, Hereditary: TFR2 gene mutation screening Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TFR2 gene.
More info about this panelHemochromatosis type 3, Hereditary: TFR2 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TFR2 gene.
More info about this panelTFR2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TFR2 gene.
More info about this panelHereditary Hemochromatosis Panel Panel
By Blueprint Genetics Hereditary Hemochromatosis Panel that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelHemochromatosis type 3 Panel
By Bioarray
This panel specifically test the TFR2 gene.
More info about this panelHemochromatosis NGS and Deletion and Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Hemochromatosis NGS and Deletion and Duplication Panel that also includes the following genes: SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV
More info about this panelTFR2 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the TFR2 gene.
More info about this panelNext Generation Sequencing for Jaundice Associated Genes Variation Test Panel
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panelHEMOCHROMATOSIS TYPE 3 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the TFR2 gene.
More info about this panelHEMOCHROMATOSIS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL HEMOCHROMATOSIS NGS PANEL that also includes the following genes: BMP6 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV
More info about this panelHemochromatosis type 3 Panel
By LifeLabs Genetics
This panel specifically test the TFR2 gene.
More info about this panelHemochromatosis Type 3 , Sequencing TFR2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the TFR2 gene.
More info about this panelHemochromatosis Type 3, Mutation (Y250X) TFR2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the TFR2 gene.
More info about this panelHemochromatosis Type 3 , Screening Mutations TFR2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the TFR2 gene.
More info about this panelHereditary Hemochromatosis , Panel Massive Sequencing (NGS) 6 Genes Panel
By Reference Laboratory Genetics Hereditary Hemochromatosis , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SLC40A1 TFR2 HAMP FTH1 HFE HJV
More info about this panelHemochromatosis type 3 Panel
By Labor Dr. Wisplinghoff
This panel specifically test the TFR2 gene.
More info about this panelTFR2-Related Hereditary Hemochromatosis: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TFR2 gene.
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