PMM2-congenital disorder of glycosylation
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.
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
CDG 1A
exact
CDG syndrome type Ia
exact
CDG-IA
exact
CDG1A
exact
PMM2-CDG
exact
PMM2-CDG (CDG-Ia)
related
PMM2-congenital disorder of glycosylation
exact
carbohydrate deficient glycoprotein syndrome type Ia
exact
carbohydrate-deficient glycoprotein syndrome type 1A
related
carbohydrate-deficient glycoprotein syndrome type 1A (formerly)
related
carbohydrate-deficient glycoprotein syndrome, type Ia
related
congenital disorder of glycosylation type 1a
exact
congenital disorder of glycosylation type Ia
exact
congenital disorder of glycosylation, type Ia
related
phosphomannomutase 2 deficiency
exact
SPAC1556.07