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MPI-CDG

ORPHA79319
Synonym(s) CDG syndrome type Ib
CDG-Ib
CDG1B
Carbohydrate deficient glycoprotein syndrome type Ib
Congenital disorder of glycosylation type 1b
Congenital disorder of glycosylation type Ib
Phosphomannose isomerase deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • E77.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Disease definition

MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

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Detailed information

Guidance for genetic testing
Article for general public
Clinical genetics review
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