Search for a rare disease
Other search option(s)
PGM3-CDG
Disease definition
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.
ORPHA:443811
Classification level: Disorder- Synonym(s):
- CID due to PGM3 deficiency
- Combined immunodeficiency due to PGM3 deficiency
- PGM3-related congenital disorder of glycosylation
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Neonatal, Infancy, Childhood
- ICD-10: E77.8
- OMIM: 615816
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Article for general public
Professionals
- Guidance for genetic testing
- English (2019)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.