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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:0000252 | Microcephaly |
| HP:0002240 | Hepatomegaly |
| HP:0001252 | Hypotonia |
| HP:0004322 | Short stature |
| HP:0000505 | Visual impairment |
| HP:0001928 | Abnormality of coagulation |
| HP:0011968 | Feeding difficulties |
| HP:0001508 | Failure to thrive |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0001250 | Seizure |
