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GTR Home > Conditions/Phenotypes > PGM1-congenital disorder of glycosylation

PGM1-congenital disorder of glycosylation

Synonyms
CDG It; Congenital disorder of glycosylation type 1t; GSD XIV; Glycogen storage disease XIV; PGM1 DEFICIENCY; PGM1-CDG; PHOSPHOGLUCOMUTASE 1 DEFICIENCY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014). For a discussion of the classification of CDGs, see CDG1A (212065). [from OMIM]

Available tests

65 tests are in the database for this condition.

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Clinical tests (65 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1T, GSD14, PGM1
    Summary: phosphoglucomutase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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