DPAGT1-CDG

What is DPAGT1-CDG?

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 <i>DPAGT1 </i> (11q23.3).

Other condition names

  • CDG syndrome type Ij
  • CDG-Ij
  • CDG1J
  • Carbohydrate deficient glycoprotein syndrome type Ij
  • Congenital disorder of glycosylation type 1j
  • Congenital disorder of glycosylation type Ij
  • Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.