STEAP3 gene related symptoms and diseases
All the information presented here about the STEAP3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to STEAP3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Growth delay | Very Common - Between 80% and 100% cases |
| Increased serum ferritin | Very Common - Between 80% and 100% cases |
| Decreased transferrin saturation | Very Common - Between 80% and 100% cases |
| Elevated hepatic iron concentration | Very Common - Between 80% and 100% cases |
| Anisopoikilocytosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with STEAP3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Increased serum iron
- Hypochromic anemia
- Reticulocytopenia
- Decreased mean corpuscular volume
- Hypochromic microcytic anemia
- Poikilocytosis
- Abnormality of the hypothalamus-pituitary axis
- Microcytic anemia
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to STEAP3 gene
Here you will find a list of rare diseases related to the STEAP3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS
Alternate names
SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS Is also known as severe congenital hypochromic sideroblastic anemia
Description
STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.
Most common symptoms of SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS
- Growth delay
- Anemia
- Hepatomegaly
- Fatigue
- Splenomegaly
More info about SEVERE CONGENITAL HYPOCHROMIC ANEMIA WITH RINGED SIDEROBLASTS
Search interest in STEAP3
Potential gene panels for STEAP3 gene
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.
Anemia, hypochromic microcytic, with iron overload 2 (sequence analysis of STEAP3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the STEAP3 gene.
More info about this panel Portugal.
NGS Panel for Congenital and Acquired Sideroblastic Anemia Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Congenital and Acquired Sideroblastic Anemia that also includes the following genes: SF3B1 SLC19A2 PUS1 LARS2 TRNT1 GLRX5 NDUFB11 YARS2 STEAP3 SLC25A38
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.
STEAP3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the STEAP3 gene.
More info about this panel United States.
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