Details of Disease

General Information of Disease (ID: DISYOKRV)

• Disease Name: Congenital disorder of deglycosylation 1
• Synonyms: CDG IV; congenital disorder of glycosylation, type IV; alacrimia - choreoathetosis - liver dysfunction syndrome; congenital disorder of glycosylation, type IV, formerly; CDG IV, formerly; congenital disorder of deglycosylation; congenital disorder of deglycosylation;CDDG; CDDG; NGLY1 deficiency; congenital disorder of deglycosylation 1; congenital disorder of glycosylation type IV; NGLY1-CDDG; CDG1V; NGLY1-deficiency; NGLY1 Deficiency; deficiency of N-glycanase 1
• Definition: A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.
• Disease Hierarchy:
  DISF7BSZ: Congenital disorder of deglycosylation
  DISOX15Q: Glycoprotein metabolism disease
  DISV24X3: Carbohydrate metabolism disorder
  DISYOKRV: Congenital disorder of deglycosylation 1

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
NGLY1	OTZBQD5Q	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.