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PMM2-CDG
Disease definition
A rare congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
ORPHA:79318
Classification level: Disorder- Synonym(s):
- CDG syndrome type Ia
- CDG-Ia
- CDG1A
- Carbohydrate deficient glycoprotein syndrome type Ia
- Congenital disorder of glycosylation type 1a
- Congenital disorder of glycosylation type Ia
- Phosphomannomutase 2 deficiency
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E77.8
- ICD-11: 5C54.0
- OMIM: 212065
- UMLS: C0349653
- MeSH: C535739
- GARD: 9826
- MedDRA: -
A summary on this disease is available in Deutsch (2016) Español (2016) Français (2016) Italiano (2016) Nederlands (2016)
Detailed information
General public
- Article for general public
- Svenska (2019) - Socialstyrelsen
Disease review articles
- Clinical genetics review
- English (2021) - GeneReviews
Clinical Outcome Assessment (COA)
- Patient-Centered Outcome Measures (PCOMs)
- English (2023) - PROQOLIDTM
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information