TF gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to TF gene

Symptoms // Phenotype % Cases
Growth delay Very Common - Between 80% and 100% cases
Abnormality of the liver Very Common - Between 80% and 100% cases
Hypochromic anemia Very Common - Between 80% and 100% cases
Hypochromic microcytic anemia Very Common - Between 80% and 100% cases
Abnormality of the pancreas Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Microcytic anemia
  • Abnormality of the cardiovascular system
  • Cirrhosis
  • Scarring
  • Pallor
  • Anemia
  • Arthritis
  • Hypothyroidism

And 6 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TF gene

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


CONGENITAL ATRANSFERRINEMIA

Alternate names

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial, congenital hypotransferrinemia

Description

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

Most common symptoms of CONGENITAL ATRANSFERRINEMIA

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


More info about CONGENITAL ATRANSFERRINEMIA

SOURCES: OMIM ORPHANET MESH


Potential gene panels for TF 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.

ATRANSFERRINEMIA Panel

Spain.

By BLOODGENETICS BLOODGENETICS

This panel specifically test the TF 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.

TF Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TF 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.

Atransferrinemia , Sequencing TF Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the TF gene.

More info about this panel
Spain.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FKTN DBH CYP3A5 TBX4 OGDH DYNC1H1 IFNGR1