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NGLY1-deficiency
Summary
- Synonym
-
- NGLY1-CDDG
- congenital disorder of deglycosylation
- congenital disorder of glycosylation type Iv
- deficiency of N-glycanase 1
- Definition
- A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24.
- Super Class
- autosomal recessive disease carbohydrate metabolic disorder
External Links
- Disease Ontology
- DOID:0060728
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P36871 | Phosphoglucomutase-1 | |
| Q8NFI3 | Cytosolic endo-beta-N-acetylglucosaminidase | |
| Q96IV0 | Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000297 | Facial hypotonia |
| HP:0000543 | Optic disc pallor |
| HP:0000548 | Cone/cone-rod dystrophy |
| HP:0000559 | Corneal scarring |
| HP:0000577 | Exotropia |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000633 | Decreased lacrimation |
| HP:0000648 | Optic atrophy |
| HP:0000657 | Oculomotor apraxia |
| HP:0001249 | Intellectual disability |
