ZFIN Human Disease: congenital disorder of glycosylation It

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:	OMIM:614921 ORDO:319646
Ontology:	Human Disease ( DOID:0080570 )

Relationships

is a type of:	autosomal recessive disease congenital disorder of glycosylation type I autosomal recessive disease congenital disorder of glycosylation type I Show first 5 Terms

OTHER congenital disorder of glycosylation It PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PGM1	pgm1	Congenital disorder of glycosylation, type It	614921

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None