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.
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
Search interest in ACTRT3
Potential gene panels for ACTRT3 gene
ACTRT3 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACTRT3 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CTRC AMER1 TBCE HNMT DMRT2 ACSF3 IARS2