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.


Alternate names

CAFFEY DISEASE Is also known as infantile cortical hyperostosis


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



Most common symptoms of BLOOD GROUP, P1PK SYSTEM

  • Spontaneous abortion
  • Hemoglobinuria
  • Blood group antigen abnormality

More info about BLOOD GROUP, P1PK SYSTEM


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.

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