Details of Disease

General Information of Disease (ID: DISUWYTI)

• Disease Name: STT3B-congenital disorder of glycosylation
• Synonyms: congenital disorder of glycosylation, type IX; CDG IX; STT3B-congenital disorder of glycosylation; CDG-Ix; carbohydrate deficient glycoprotein syndrome type IX; CDG1X; congenital disorder of glycosylation type IX; congenital disorder of glycosylation type 1x; STT3B-CDG; CDG syndrome type IX
• Definition: STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).
• Disease Hierarchy:
  DISBHHT1: Congenital disorder of glycosylation type I
  DIST8BQR: Disorder of protein N-glycosylation
  DISUWYTI: STT3B-congenital disorder of glycosylation
• Disease Identifiers:
  MONDO ID: MONDO_0014271
  MESH ID: C535751
  UMLS CUI: C2931007
  OMIM ID: 615597
  MedGen ID: 419309
  Orphanet ID: 370924
  SNOMED CT ID: 733112007

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
STT3B	OTRLJTF0	Supportive	Autosomal recessive	[1]

References

• [1] Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Hum Mol Genet. 2013 Nov 15;22(22):4638-45. doi: 10.1093/hmg/ddt312. Epub 2013 Jul 10.