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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital disorder of glycosylation If
Summary
- Synonym
-
- congenital disorder of glycosylation 1f
- Definition
- A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080558
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75352 | Mannose-P-dolichol utilization defect 1 protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000803 | Renal cortical cysts |
| HP:0003642 | Type I transferrin isoform profile |
| HP:0003256 | Abnormality of the coagulation cascade |
| HP:0000252 | Microcephaly |
| HP:0001522 | Death in infancy |
| HP:0001019 | Erythroderma |
| HP:0001251 | Ataxia |
| HP:0000486 | Strabismus |
| HP:0003623 | Neonatal onset |
| HP:0000958 | Dry skin |
