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DK1-congenital disorder of glycosylation

Synonyms
CDG Im; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; Carbohydrate deficient glycoprotein syndrome type 1m; Congenital disorder of glycosylation type 1M; DK1 DEFICIENCY; DK1-CDG; DOLICHOL KINASE DEFICIENCY; DOLK-CDG (CDG-Im); DOLK-congenital disorder of glycosylation
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

DOLK-congenital disorder of glycosylation (DOLK-CDG, formerly known as congenital disorder of glycosylation type Im) is an inherited condition that often affects the heart but can also involve other body systems. The pattern and severity of this disorder's signs and symptoms vary among affected individuals.\n\nIndividuals with DOLK-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Nearly all individuals with DOLK-CDG develop a weakened and enlarged heart (dilated cardiomyopathy). Other frequent signs and symptoms include recurrent seizures; developmental delay; poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). Less commonly, affected individuals can have distinctive facial features, kidney disease, hormonal abnormalities, or eye problems.\n\nIndividuals with DOLK-CDG typically do not survive into adulthood, often because of complications related to dilated cardiomyopathy, and some do not survive past infancy. [from MedlinePlus Genetics]

Available tests

55 tests are in the database for this condition.

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Clinical tests (55 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1M, DK, DK1, SEC59, TMEM15, DOLK
    Summary: dolichol kinase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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