congenital disorder of glycosylation Ib

Term ID

DOID:0080554

Synonyms

• congenital disorder of glycosylation 1b

Definition

A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24. https://www.omim.org/entry/602579

References

• GARD:9830
• OMIM:602579
• ORDO:79319

Ontology

Human Disease   ( DOID:0080554 )