Details of Disease

General Information of Disease (ID: DISQBQCX)

• Disease Name: SSR4-congenital disorder of glycosylation
• Synonyms: CDGIy; congenital disorder of glycosylation, type Iy; CDG 1Y; CDG Iy; congenital disorder of glycosylation, type Iy, X-linked recessive; CDG-Iy; congenital disorder of glycosylation type 1y; CDG syndrome type Iy; SSR4-CDG; CDG1Y; congenital disorder of glycosylation type Iy; carbohydrate deficient glycoprotein syndrome type Iy; SSR4-congenital disorder of glycosylation
• Definition: A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28).
• Disease Hierarchy:
  DISBHHT1: Congenital disorder of glycosylation type I
  DISMFQKM: Developmental anomaly of metabolic origin
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIST8BQR: Disorder of protein N-glycosylation
  DISQBQCX: SSR4-congenital disorder of glycosylation
• Disease Identifiers:
  MONDO ID: MONDO_0010490
  UMLS CUI: C4012395
  OMIM ID: 300934
  MedGen ID: 860832
  Orphanet ID: 370927
  SNOMED CT ID: 733115009

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
SSR4	OTBWBGMR	Strong	X-linked	[1]

References

• [1] A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Hum Mol Genet. 2014 Mar 15;23(6):1602-5. doi: 10.1093/hmg/ddt550. Epub 2013 Nov 11.