congenital disorder of glycosylation It

Term ID

DOID:0080570

Synonyms

• congenital disorder of glycosylation 1t

Definition

A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. https://www.ncbi.nlm.nih.gov/pubmed/24499211

References

• OMIM:614921
• ORDO:319646

Ontology

Human Disease   ( DOID:0080570 )