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


More info about HEMOCHROMATOSIS TYPE 3

SOURCES: MESH ORPHANET OMIM


Potential gene panels for TFR2 gene

TFR2 Sequencing Panel

United States.

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 panel
United States.

Hyperferritinemia Panel Panel

Argentina.

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 panel
Argentina.

TFR2. Detection of the mutations p.Arg30ProfsX31, p.Met172Lys, p.Tyr250X and p.Ala621_Gln624del by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TFR2 gene.

More info about this panel
Spain.

TFR2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TFR2 gene.

More info about this panel
Spain.

Hemochromatosis (sequence analysis of TFR2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TFR2 gene.

More info about this panel
Portugal.

Hemochromatosis (NGS panel for 8 genes) Panel

Portugal.

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 panel
Portugal.

Hemochromatosis (NGS panel for 8 genes) Panel

Portugal.

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 panel
Portugal.

Hereditary Hemochromatosis Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Hereditary Hemochromatosis via TFR2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TFR2 gene.

More info about this panel
United States.

Hemochromatosis Panel

Germany.

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 panel
Germany.

Hemochromatosis type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TFR2 gene.

More info about this panel
Germany.

TFR2-Related Hereditary Hemochromatosis Panel

Italy.

By Medical Genetics Laboratory Bambino Gesù Children's Hospital

This panel specifically test the TFR2 gene.

More info about this panel
Italy.

Genetic disorders with abnormal pigmentation Panel Panel

Germany.

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 panel
Germany.

Haemochromatosis Panel

Poland.

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 panel
Poland.

TFR2-Related Hereditary Hemochromatosis (HH type 3, HFE3) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the TFR2 gene.

More info about this panel
Germany.

Hemochromatosis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hemochromatosis that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV

More info about this panel
Estonia.

NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel Panel

Spain.

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 panel
Spain.

TFR2-Related Hereditary Hemochromatosis Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the TFR2 gene.

More info about this panel
Netherlands.

Hemochromatosis Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the TFR2 gene.

More info about this panel
Austria.

qCarrier Plus Panel

Spain.

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 panel
Spain.

Hemochromatosis Panel

Slovakia.

By MedGene

This panel specifically test the TFR2 gene.

More info about this panel
Slovakia.

Invitae Hereditary Hemochromatosis Panel Panel

United States.

By Invitae Invitae Hereditary Hemochromatosis Panel that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV

More info about this panel
United States.

Hemochromatosis type 3, Hereditary: TFR2 gene, Y250X mutation Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TFR2 gene.

More info about this panel
Spain.

Hemochromatosis type 3, Hereditary: TFR2 gene mutation screening Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TFR2 gene.

More info about this panel
Spain.

Hemochromatosis type 3, Hereditary: TFR2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the TFR2 gene.

More info about this panel
Spain.

TFR2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TFR2 gene.

More info about this panel
United States.

Hereditary Hemochromatosis Panel Panel

Finland.

By Blueprint Genetics Hereditary Hemochromatosis Panel that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV

More info about this panel
Finland.

Comprehensive Metabolism Panel Panel

Finland.

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 panel
Finland.

Hemochromatosis type 3 Panel

Spain.

By Bioarray

This panel specifically test the TFR2 gene.

More info about this panel
Spain.

Hemochromatosis NGS and Deletion and Duplication Panel Panel

United States.

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 panel
United States.

TFR2 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the TFR2 gene.

More info about this panel
United States.

Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel

Taiwan.

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 panel
Taiwan.

HEMOCHROMATOSIS TYPE 3 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the TFR2 gene.

More info about this panel
Spain.

HEMOCHROMATOSIS NGS PANEL Panel

Spain.

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 panel
Spain.

Hemochromatosis type 3 Panel

Canada.

By LifeLabs Genetics

This panel specifically test the TFR2 gene.

More info about this panel
Canada.

Hemochromatosis Type 3 , Sequencing TFR2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TFR2 gene.

More info about this panel
Spain.

Hemochromatosis Type 3, Mutation (Y250X) TFR2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TFR2 gene.

More info about this panel
Spain.

Hemochromatosis Type 3 , Screening Mutations TFR2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TFR2 gene.

More info about this panel
Spain.

Hereditary Hemochromatosis , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

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 panel
Spain.

Hemochromatosis type 3 Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the TFR2 gene.

More info about this panel
Germany.

TFR2-Related Hereditary Hemochromatosis: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the TFR2 gene.

More info about this panel
Canada.

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