Details of Disease

General Information of Disease (ID: DIS8VNJ8)

• Disease Name: MAN1B1-congenital disorder of glycosylation
• Synonyms: intellectual disability-truncal obesity syndrome; MAN1B1-congenital disorder of glycosylation; congenital disorder of glycosylation type II due to MAN1B1 deficiency; carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency; congenital disorder of glycosylation type 2 due to MAN1B1 deficiency; MAN1B1-CDG
• Definition: MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).
• Disease Hierarchy:
  DIS400QP: Congenital disorder of glycosylation
  DIST8BQR: Disorder of protein N-glycosylation
  DIS8VNJ8: MAN1B1-congenital disorder of glycosylation
• Disease Identifiers:
  MONDO ID: MONDO_0018349
  UMLS CUI: C4518783
  MedGen ID: 1375785
  Orphanet ID: 397941
  SNOMED CT ID: 733450008

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
MAN1B1	OTI780UB	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.