Details of Disease

General Information of Disease (ID: DISOX57C)

• Disease Name: ALG1-congenital disorder of glycosylation
• Synonyms: CDG Ik; congenital disorder of glycosylation, type Ik; CDG 1K; ALG1-CDG (CDG-Ik); congenital disorder of glycosylation type Ik; carbohydrate deficient glycoprotein syndrome type Ik; congenital disorder of glycosylation type 1k; ALG1-congenital disorder of glycosylation; CDG-Ik; CDG syndrome type Ik; CDG1K; ALG1-CDG; mannosyltransferase 1 deficiency
• Definition: A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).
• Disease Hierarchy:
  DISBHHT1: Congenital disorder of glycosylation type I
  DIST8BQR: Disorder of protein N-glycosylation
  DISOX57C: ALG1-congenital disorder of glycosylation
• Disease Identifiers:
  MONDO ID: MONDO_0012052
  MESH ID: C535749
  UMLS CUI: C2931005
  OMIM ID: 608540
  MedGen ID: 419308
  Orphanet ID: 79327
  SNOMED CT ID: 720941007

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
ALG1	OTVXPA9E	Definitive	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.