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  3. STEAP3-AS1

STEAP3-AS1 gene related symptoms and diseases

All the information presented here about the STEAP3-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to STEAP3-AS1 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-AS1 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-AS1 gene

Here you will find a list of rare diseases related to the STEAP3-AS1. 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

SOURCES: OMIM ORPHANET



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