Details of Disease

General Information of Disease (ID: DISQWUBA)

• Disease Name: DK1-congenital disorder of glycosylation
• Synonyms: Dk1 deficiency; CDG Im; CDGIm; congenital disorder of glycosylation, type Im; DOLK-CDG (CDG-Im); congenital disorder of glycosylation type Im; dolichol kinase deficiency; DK1-CDG; CDG syndrome type Im; DK1-congenital disorder of glycosylation; congenital disorder of glycosylation type 1m; CDG1M; hypotonia and ichthyosis due to dolichol phosphate deficiency; carbohydrate deficient glycoprotein syndrome type Im; CDG-Im
• 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.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISBHDU9: Familial dilated cardiomyopathy
  DISO85MT: Disorder of multiple glycosylation
  DISBHHT1: Congenital disorder of glycosylation type I
  DISSCALK: Hereditary skin disorder
  DISQWUBA: DK1-congenital disorder of glycosylation
• Disease Identifiers:
  MONDO ID: MONDO_0012556
  MESH ID: C563666
  UMLS CUI: C1835849
  OMIM ID: 610768
  MedGen ID: 332072
  Orphanet ID: 91131
  SNOMED CT ID: 718712005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DOLK	OT2HTIAN	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.