1. Mendelian
  2. Rare Disease Genes
  3. TFCP2L1

TFCP2L1 gene related symptoms and diseases

All the information presented here about the TFCP2L1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to TFCP2L1 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Glomerulopathy Very Common - Between 80% and 100% cases
Raynaud phenomenon Very Common - Between 80% and 100% cases
Gangrene Very Common - Between 80% and 100% cases
Pulmonary infiltrates Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TFCP2L1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Pustule
  • Uveitis
  • Aseptic necrosis
  • Pulmonary embolism
  • Hemoptysis
  • Pericarditis
  • Keratoconjunctivitis sicca
  • Blurred vision

And 94 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TFCP2L1 gene

Here you will find a list of rare diseases related to the TFCP2L1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BEHÇET DISEASE

Alternate names

BEHÇET DISEASE Is also known as bd, behcet disease

Description

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

Most common symptoms of BEHÇET DISEASE

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


More info about BEHÇET DISEASE

SOURCES: OMIM ORPHANET MESH


Potential gene panels for TFCP2L1 gene

TFCP2L1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TFCP2L1 gene.

More info about this panel
United States.

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