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Synonyms: CDG syndrome type Im | CDG-Im | CDG1M | Carbohydrate deficient glycoprotein syndrome type Im | Congenital disorder of glycosylation type 1m | Congenital disorder of glycosylation type Im | Dolichol kinase deficiency | Hypotonia and ichthyosis due to dolichol phosphate deficiency

DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1) an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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Advocacy Organizations


Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

Clinical Trials

For a list of clinical trials in this disease area, please click here.