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: NCBIGENE,OMIM,HGNC.

Top 5 symptoms associated to A4GALT gene



Symptoms // Phenotype % Cases
Autosomal dominant inheritance Very Common - Between 80% and 100% cases
Thrombocytosis Uncommon - Between 30% and 50% cases
Cellulitis Uncommon - Between 30% and 50% cases
Tibial bowing Uncommon - Between 30% and 50% cases
Increased antibody level in blood Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with A4GALT gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases

Leukocytosis Hyperostosis Bowing of the legs Restlessness Short palm Vertebral compression fractures Thoracic dysplasia Calvarial hyperostosis

And 25 more phenotypes.

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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.


BLOOD GROUP, P1PK SYSTEM

Most common symptoms of BLOOD GROUP, P1PK SYSTEM

  • Autosomal dominant inheritance
  • Pain
  • Spontaneous abortion
  • Hemoglobinuria
  • Blood group antigen abnormality


More info about BLOOD GROUP, P1PK SYSTEM

SOURCES: OMIM SCTID

CAFFEY DISEASE

Alternate names

CAFFEY DISEASE Is also known as infantile cortical hyperostosis;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

  • Autosomal dominant inheritance
  • Short stature
  • Pica
  • Scoliosis
  • Milia


More info about CAFFEY DISEASE

SOURCES: OMIM SCTID MONDO MESH GARD ORPHANET ICD10 DOID UMLS NCIT

Potential gene panels for A4GALT gene

A4GALT Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the A4GALT gene.

More info about this panel


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