Details of Disease

General Information of Disease (ID: DISOX15Q)

• Disease Name: Glycoprotein metabolism disease
• Synonyms: glycoprotein metabolic process disease; glycoprotein metabolism disease; disorder of glycoprotein metabolic process; disorder of glycoprotein metabolism
• Definition: A disease that has its basis in the disruption of glycoprotein metabolic process.|Examples: alpha-n-acetylgalactosaminidase deficiency (disorder), carbohydrate-deficient glycoprotein syndrome (disorder), alpha-1-antitrypsin deficiency (disorder), alpha-2-antitrypsin deficiency (disorder), sialidosis (disorder), aspartylglucosaminuria (disorder), fucosidosis (disorder), mannosidosis (disorder), i-cell disease (disorder), glycoprotein storage disorder (disorder)
• Disease Hierarchy:
  DISO5FAY: Inborn error of metabolism
  DISWD40R: Disease
  DISOX15Q: Glycoprotein metabolism disease
• Disease Identifiers:
  MONDO ID: MONDO_0045010
  UMLS CUI: C0342844
  MedGen ID: 575248
  SNOMED CT ID: 238045003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PMM2	DEBRX3L	Strong	Biomarker	[1]

References

• [1] A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III.Neuropediatrics. 1999 Apr;30(2):90-2. doi: 10.1055/s-2007-973466.