SLC11A2 gene related symptoms and diseases

All the information presented here about the SLC11A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SLC11A2 gene

Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Abnormality of metabolism/homeostasis Very Common - Between 80% and 100% cases
Abnormality of the liver Very Common - Between 80% and 100% cases
Microcytic anemia Very Common - Between 80% and 100% cases
Hypochromic microcytic anemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLC11A2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Decreased mean corpuscular volume
  • Erythroid hyperplasia

Rare diseases associated to SLC11A2 gene

Here you will find a list of rare diseases related to the SLC11A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MICROCYTIC ANEMIA WITH LIVER IRON OVERLOAD

Description

Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.

Most common symptoms of MICROCYTIC ANEMIA WITH LIVER IRON OVERLOAD

  • Anemia
  • Abnormality of metabolism/homeostasis
  • Abnormality of the liver
  • Microcytic anemia
  • Hypochromic microcytic anemia


More info about MICROCYTIC ANEMIA WITH LIVER IRON OVERLOAD

SOURCES: OMIM ORPHANET


Potential gene panels for SLC11A2 gene

Microcytic anemia with liver iron overload (sequence analysis of SLC11A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SLC11A2 gene.

More info about this panel
Portugal.

Microcytic hypochromic anemia with hepatic iron overload Panel

Spain.

By BLOODGENETICS BLOODGENETICS

This panel specifically test the SLC11A2 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.

SLC11A2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC11A2 gene.

More info about this panel
United States.

Hypochromic Microcytic Anemia with Iron Overload , Sequencing SLC11A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SLC11A2 gene.

More info about this panel
Spain.

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