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DPAGT1-CDG

Disease 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).

ORPHA:86309

Classification level: Disorder
  • Synonym(s):
    • 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
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy, Neonatal
  • ICD-10: E77.8
  • OMIM: 608093
  • UMLS: C2931004
  • MeSH: -
  • GARD: 9837
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.