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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:0000707 | Abnormality of the nervous system |
| HP:0002240 | Hepatomegaly |
| HP:0001409 | Portal hypertension |
| HP:0004855 | Reduced protein S activity |
| HP:0000825 | Hyperinsulinemic hypoglycemia |
| HP:0001977 | Abnormal thrombosis |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0001508 | Failure to thrive |
| HP:0003073 | Hypoalbuminemia |
| HP:0001249 | Intellectual disability |
