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congenital disorder of glycosylation It
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080570
- Mondo Disease Ontology
- ORDO
- OMIM
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P36871 | Phosphoglucomutase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
| HP:0003201 | Rhabdomyolysis |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003546 | Exercise intolerance |
| HP:0003645 | Prolonged partial thromboplastin time |
| HP:0004322 | Short stature |
| HP:0005305 | Cerebral venous thrombosis |
| HP:0006568 | Increased hepatic glycogen content |
| HP:0008151 | Prolonged prothrombin time |
