TFRC gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to TFRC gene

Symptoms // Phenotype % Cases
Neoplasm Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Frontal balding Uncommon - Between 30% and 50% cases
Hypopnea Uncommon - Between 30% and 50% cases
Conjunctival hyperemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TFRC gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Enlarged ovaries
  • Beta-cell dysfunction
  • Failure to thrive
  • Anemia
  • Diarrhea
  • Immunodeficiency
  • Thrombocytopenia
  • Prostate cancer

And 35 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TFRC gene

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


POLYCYSTIC OVARY SYNDROME 1; PCOS1

Alternate names

POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos

Description

a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance

Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1

  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Obesity
  • Diabetes mellitus
  • Apnea


More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1

SOURCES: OMIM MESH

COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY

Alternate names

COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY Is also known as cid due to tfrc deficiency, tfrc-related combined immunodeficiency

Most common symptoms of COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY

  • Failure to thrive
  • Anemia
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


More info about COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for TFRC gene

TFRC Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TFRC gene.

More info about this panel
United States.

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel
Finland.

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

More info about this panel
Finland.

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TBX15 COASY DBH ALX1 ZNF335 ANXA11 CCDC88C