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DK1-CDG
Disease definition
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.
ORPHA:91131
Classification level: Disorder- Synonym(s):
- 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
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E77.8
- OMIM: 610768
- UMLS: C1835849
- MeSH: -
- GARD: 12393
- MedDRA: -
Detailed information
Professionals
- Emergency guidelines
- Français (2018, pdf)
- Practical genetics
- English (2013, pdf)
- Clinical genetics review
- English (2017)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.