A4GALT gene related symptoms and diseases
All the information presented here about the A4GALT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to A4GALT gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Uncommon - Between 30% and 50% cases |
| Thoracic dysplasia | Uncommon - Between 30% and 50% cases |
| Leukocytosis | Uncommon - Between 30% and 50% cases |
| Increased antibody level in blood | Uncommon - Between 30% and 50% cases |
| Tibial bowing | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with A4GALT gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Cellulitis
- Restlessness
- Thrombocytosis
- Calvarial hyperostosis
- Hyperostosis
- Anasarca
- Cortical thickening of long bone diaphyses
- Hyperesthesia
And 25 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to A4GALT gene
Here you will find a list of rare diseases related to the A4GALT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CAFFEY DISEASE
Alternate names
CAFFEY DISEASE Is also known as infantile cortical hyperostosis
Description
Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.
Most common symptoms of CAFFEY DISEASE
- Short stature
- Scoliosis
- Pain
- Fever
- Abnormality of the skeletal system
More info about CAFFEY DISEASE
BLOOD GROUP, P1PK SYSTEM
Most common symptoms of BLOOD GROUP, P1PK SYSTEM
- Spontaneous abortion
- Hemoglobinuria
- Blood group antigen abnormality
More info about BLOOD GROUP, P1PK SYSTEM
SOURCES: OMIM
Search interest in A4GALT
Potential gene panels for A4GALT gene
A4GALT Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the A4GALT gene.
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 PAX5 SUGCT POGZ ARHGEF9