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ORPHA:443811Disease
Also called CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency · PGM3-related congenital disorder of glycosylation
What it 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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
7Common30–79%
18- Ataxia
- Atopic dermatitis
- Chronic otitis media
- Decreased proportion of CD3-positive T cells
- Decreased total T cell count
- Failure to thrive
- Increased circulating IgE concentration
- Increased circulating IgG level
- Intellectual disability, moderate
- Lymphopenia
- Moderate global developmental delay
- Recurrent bacterial infections
- Recurrent pneumonia
- Recurrent viral infections
- Reduced antigen-specific T cell proliferation
- Rheumatoid factor positive
- Sepsis
- Vasculitis in the skin
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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