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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:0002014 | Diarrhea |
| HP:0001394 | Cirrhosis |
| HP:0003819 | Death in childhood |
| HP:0002570 | Steatorrhea |
| HP:0001892 | Abnormal bleeding |
| HP:0000107 | Renal cyst |
| HP:0001399 | Hepatic failure |
| HP:0003593 | Infantile onset |
| HP:0001252 | Hypotonia |
| HP:0001976 | Reduced antithrombin III activity |
