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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0000825 | Hyperinsulinemic hypoglycemia |
| HP:0001395 | Hepatic fibrosis |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000821 | Hypothyroidism |
| HP:0001409 | Portal hypertension |
| HP:0000969 | Edema |
| HP:0001290 | Generalized hypotonia |
| HP:0000114 | Proximal tubulopathy |
| HP:0000007 | Autosomal recessive inheritance |
