Details of Disease

General Information of Disease (ID: DIS0SLL5)

• Disease Name: ALG11-congenital disorder of glycosylation
• Synonyms: ALG11-CDG (CDG-Ip); congenital disorder of glycosylation, type Ip; ALG11-CDG; CDG1P; ALG11-congenital disorder of glycosylation; congenital disorder of glycosylation type Ip; CDG syndrome type Ip; carbohydrate deficient glycoprotein syndrome type Ip; CDG-Ip; congenital disorder of glycosylation type 1p
• Definition: A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).
• Disease Hierarchy:
  DISBHHT1: Congenital disorder of glycosylation type I
  DIST8BQR: Disorder of protein N-glycosylation
  DIS0SLL5: ALG11-congenital disorder of glycosylation
• Disease Identifiers:
  MONDO ID: MONDO_0013349
  UMLS CUI: C3150913
  OMIM ID: 613661
  MedGen ID: 462263
  Orphanet ID: 280071
  SNOMED CT ID: 733085004

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
ALG11	OTTXM241	Strong	Autosomal recessive	[1]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.