PMM2-congenital disorder of glycosylation
Findings
No curated finding names PMM2-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The most frequent form of 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.
Definition from the Mondo Disease Ontology (MONDO:0008907), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy · Congenital onset · Infantile onset · Neonatal onset · Death in childhood · Childhood onset
HPO, annotations 2026-09-02
Features
107 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Almond-shaped palpebral fissureHPOHP:0007874
- 3 of 3 reported patients
- Hepatic fibrosisHPOHP:0001395
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Reduced tissue phosphomannomutase activityHPOHP:6000781
- 3 of 3 reported patients
- Type I transferrin isoform profileHPOHP:0003642
- 23 of 23 reported patients
- Global developmental delayHPOHP:0001263
- 21 of 23 reported patients
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PMM2HGNC:9115
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: PMM2-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type IaCDG 1ACDG syndrome type IaCDG-IACDG1Acongenital disorder of glycosylation type 1acongenital disorder of glycosylation type Iaphosphomannomutase 2 deficiencyPMM2-CDG