header logo image header logo text
Downloads Login
Research
General Information
ZIRC
OBO ID: DOID:0080570
Term Name: congenital disorder of glycosylation It Search Ontology:
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:
Ontology: Human Disease   (DOID:0080570)
OTHER congenital disorder of glycosylation It PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PGM1 Congenital disorder of glycosylation, type It 614921
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None