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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 |
|---|---|---|
| O15305 | Phosphomannomutase 2 | |
| Q13724 | Mannosyl-oligosaccharide glucosidase | |
| Q9C0K1 | Metal cation symporter ZIP8 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0002401 | Stroke-like episode |
| HP:0000932 | Abnormal posterior cranial fossa morphology |
| HP:0007146 | Bilateral basal ganglia lesions |
| HP:0001977 | Abnormal thrombosis |
| HP:0000365 | Hearing impairment |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0001251 | Ataxia |
| HP:0003186 | Inverted nipples |
| HP:0001892 | Abnormal bleeding |
