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congenital disorder of glycosylation In
Summary
- Synonym
-
- congenital disorder of glycosylation 1n
- Definition
- A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080566
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96AA3 | Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002059 | Cerebral atrophy |
| HP:0002093 | Respiratory insufficiency |
| HP:0007663 | Reduced visual acuity |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0003256 | Abnormality of the coagulation cascade |
| HP:0001336 | Myoclonus |
| HP:0003642 | Type I transferrin isoform profile |
| HP:0001181 | Adducted thumb |
| HP:0010864 | Intellectual disability, severe |
| HP:0001257 | Spasticity |
