ACTRT3 gene related symptoms and diseases

All the information presented here about the ACTRT3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ACTRT3 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Skin vesicle Very Common - Between 80% and 100% cases
Taurodontia Very Common - Between 80% and 100% cases
Abnormal eyebrow morphology Very Common - Between 80% and 100% cases
Neoplasm of the pancreas Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ACTRT3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Blepharitis
  • Abnormal eyelash morphology
  • Premature loss of teeth
  • Aseptic necrosis
  • Telangiectasia of the skin
  • Aplasia/Hypoplasia of the skin
  • Macule
  • White hair

And 82 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to ACTRT3 gene

Here you will find a list of rare diseases related to the ACTRT3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DYSKERATOSIS CONGENITA


Alternate names

DYSKERATOSIS CONGENITA Is also known as dkc, dc, dyskeratosis congenita, scoggins type, zinsser-engman-cole syndrome

Description

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

Most common symptoms of DYSKERATOSIS CONGENITA

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


More info about DYSKERATOSIS CONGENITA

SOURCES: ORPHANET MESH OMIM


Potential gene panels for ACTRT3 gene

ACTRT3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACTRT3 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NPHP4 BAX ORC4

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more