Details of Disease

General Information of Disease (ID: DISBQ49X)

• Disease Name: ALG12-congenital disorder of glycosylation
• Synonyms: CDG 1G; CDG Ig; ALG12-CDG (CDG-Ig); congenital disorder of glycosylation, type Ig; CDG1G; congenital disorder of glycosylation type 1g; CDG-Ig; ALG12-congenital disorder of glycosylation; mannosyltransferase 8 deficiency; carbohydrate deficient glycoprotein syndrome type Ig; congenital disorder of glycosylation type Ig; ALG12-CDG; CDG syndrome type Ig; CDGIg
• Definition: A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).
• Disease Hierarchy:
  DISBHHT1: Congenital disorder of glycosylation type I
  DIST8BQR: Disorder of protein N-glycosylation
  DISBQ49X: ALG12-congenital disorder of glycosylation
• Disease Identifiers:
  MONDO ID: MONDO_0011783
  MESH ID: C535745
  UMLS CUI: C2931001
  OMIM ID: 607143
  MedGen ID: 443954
  Orphanet ID: 79324
  SNOMED CT ID: 711155008

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
ALG12	OTVAT4OJ	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.