TMPRSS6 gene related symptoms and diseases

All the information presented here about the TMPRSS6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TMPRSS6 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Reticulocytosis Very Common - Between 80% and 100% cases
Decreased serum iron Very Common - Between 80% and 100% cases
Hypocupremia Very Common - Between 80% and 100% cases
Decreased mean corpuscular volume Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TMPRSS6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypochromic microcytic anemia
  • Poikilocytosis
  • Anisocytosis
  • Intrahepatic cholestasis
  • Iron deficiency anemia
  • Anemia
  • Microcytic anemia
  • Abnormal intestine morphology

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TMPRSS6 gene

Here you will find a list of rare diseases related to the TMPRSS6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


IRIDA SYNDROME

Alternate 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

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.

Most common symptoms of IRIDA SYNDROME

  • Intellectual disability
  • Anemia
  • Peripheral neuropathy
  • Fatigue
  • Hyperkeratosis


More info about IRIDA SYNDROME

SOURCES: ORPHANET MESH OMIM


Potential gene panels for TMPRSS6 gene

TMPRSS6. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the TMPRSS6 gene.

More info about this panel
Spain.

Iron-refractory iron deficiency anemia (sequence analysis of TMPRSS6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TMPRSS6 gene.

More info about this panel
Portugal.

Iron-Refractory Iron Deficiency Anemia (IRIDA) via TMPRSS6 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TMPRSS6 gene.

More info about this panel
United States.

Iron-refractory iron deficiency anemia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TMPRSS6 gene.

More info about this panel
Germany.

IRIDA, iron-refractory iron deficient anemia Panel

Spain.

By BLOODGENETICS BLOODGENETICS

This panel specifically test the TMPRSS6 gene.

More info about this panel
Spain.

NGS Panel for Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2) Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2) that also includes the following genes: SLC11A2 TF TMPRSS6 ACVR1 CP STEAP3 ATP4A ATP7B

More info about this panel
Spain.

TMPRSS6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TMPRSS6 gene.

More info about this panel
United States.

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel
Finland.

Anemia Panel Panel

Finland.

By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel
Finland.

IRIDA syndrome Panel

Spain.

By Bioarray

This panel specifically test the TMPRSS6 gene.

More info about this panel
Spain.

IRIDA SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the TMPRSS6 gene.

More info about this panel
Spain.

Iron-Refractory Iron Deficiency Anemia, Sequencing TMPRSS6 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TMPRSS6 gene.

More info about this panel
Spain.

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