Orphanet: ALG8 CDG
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ALG8-CDG

Disease definition

A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ORPHA:79325

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type Ih
    • CDG-Ih
    • CDG1H
    • Carbohydrate deficient glycoprotein syndrome type Ih
    • Congenital disorder of glycosylation type 1h
    • Congenital disorder of glycosylation type Ih
    • Glucosyltransferase 2 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: E77.8
  • OMIM: 608104
  • UMLS: C2931002
  • MeSH: -
  • GARD: 9834
  • MedDRA: -

Detailed information

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