DK1-congenital disorder of glycosylation
Findings
No curated finding names DK1-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
DK1-CDG is characterized 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.
Definition from the Mondo Disease Ontology (MONDO:0012556), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
48 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Type I transferrin isoform profileHPOHP:0003642
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Cardiomyocyte hypertrophyHPOHP:0031319
- Very frequent (80% to 99% of cases)
- Dilated cardiomyopathyHPOHP:0001644
- 2 of 4 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 3 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DOLKHGNC:23406
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: DK1-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type ImCDG syndrome type ImCDG-ImCDG1Mcongenital disorder of glycosylation type 1mcongenital disorder of glycosylation type ImDK1-CDGdolichol kinase deficiencyhypotonia and ichthyosis due to dolichol phosphate deficiency