DOP1A gene related symptoms and diseases

All the information presented here about the DOP1A 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 DOP1A gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Vasculitis Very Common - Between 80% and 100% cases
Hemolytic anemia Very Common - Between 80% and 100% cases
Neutropenia Very Common - Between 80% and 100% cases
Asthma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DOP1A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Sensory impairment
  • Lymphoma
  • Eczema
  • Inflammatory abnormality of the skin
  • Bronchiectasis
  • Lymphopenia
  • Narrow palpebral fissure
  • Respiratory tract infection

And 36 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to DOP1A gene

Here you will find a list of rare diseases related to the DOP1A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

PGM3-CDG Is also known as cid due to pgm3 deficiency, immunodeficiency with hyper ige and cognitive impairment, pgm3-related congenital disorder of glycosylation, combined immunodeficiency due to pgm3 deficiency, immunodeficiency-vasculitis-myoclonus syndrome, ivms


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

Most common symptoms of PGM3-CDG

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia

More info about PGM3-CDG


Potential gene panels for DOP1A gene

DOPEY1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DOP1A gene.

More info about this panel
United States.

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