Details of Disease

General Information of Disease (ID: DISXWRLX)

• Disease Name: DPAGT1-congenital disorder of glycosylation
• Synonyms: DPAGT1-CDG (CDG-Ij); CDG 1J; congenital disorder of glycosylation, type Ij; CDG Ij; congenital disorder of glycosylation type 1j; DPAGT1-congenital disorder of glycosylation; CDG syndrome type Ij; congenital disorder of glycosylation type Ij; dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; carbohydrate deficient glycoprotein syndrome type Ij; CDGIj; CDG1J; CDG-Ij; DPAGT1-CDG
• Definition: DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).
• Disease Hierarchy:
  DISBHHT1: Congenital disorder of glycosylation type I
  DIST8BQR: Disorder of protein N-glycosylation
  DISXWRLX: DPAGT1-congenital disorder of glycosylation
• Disease Identifiers:
  MONDO ID: MONDO_0011964
  MESH ID: C535748
  UMLS CUI: C2931004
  OMIM ID: 608093
  MedGen ID: 419694
  Orphanet ID: 86309
  SNOMED CT ID: 725079003

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
DPAGT1	OTYEJAGZ	Strong	Autosomal recessive	[1]

References

• [1] Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Hum Mutat. 2003 Aug;22(2):144-50. doi: 10.1002/humu.10239.