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congenital disorder of glycosylation Ib
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080554
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15305 | Phosphomannomutase 2 | |
| P34949 | Mannose-6-phosphate isomerase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001410 | Decreased liver function |
| HP:0002243 | Protein-losing enteropathy |
| HP:0000969 | Edema |
| HP:0005543 | Reduced protein C activity |
| HP:0002013 | Vomiting |
| HP:0000821 | Hypothyroidism |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0001395 | Hepatic fibrosis |
| HP:0003256 | Abnormality of the coagulation cascade |
| HP:0001929 | Reduced factor XI activity |
