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
Search interest in TMPRSS6
Potential gene panels for TMPRSS6 gene
TMPRSS6. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TMPRSS6 gene.
More info about this panelIron-refractory iron deficiency anemia (sequence analysis of TMPRSS6 gene) Panel
By CGC Genetics
This panel specifically test the TMPRSS6 gene.
More info about this panelIron-Refractory Iron Deficiency Anemia (IRIDA) via TMPRSS6 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the TMPRSS6 gene.
More info about this panelIron-refractory iron deficiency anemia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the TMPRSS6 gene.
More info about this panelIRIDA, iron-refractory iron deficient anemia Panel
By BLOODGENETICS BLOODGENETICS
This panel specifically test the TMPRSS6 gene.
More info about this panelNGS Panel for Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2) Panel
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 panelTMPRSS6 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TMPRSS6 gene.
More info about this panelComprehensive Hematology Panel Panel
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 panelAnemia Panel Panel
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 panelIRIDA syndrome Panel
By Bioarray
This panel specifically test the TMPRSS6 gene.
More info about this panelIRIDA SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the TMPRSS6 gene.
More info about this panelIron-Refractory Iron Deficiency Anemia, Sequencing TMPRSS6 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the TMPRSS6 gene.
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