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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:0006254 | Elevated circulating alpha-fetoprotein concentration |
| HP:0007021 | Pain insensitivity |
| HP:0007957 | Corneal opacity |
| HP:0008954 | Intrinsic hand muscle atrophy |
| HP:0009830 | Peripheral neuropathy |
| HP:0009938 | Sunken cheeks |
| HP:0010536 | Central sleep apnea |
| HP:0011800 | Midface retrusion |
| HP:0012069 | Keratan sulfate excretion in urine |
| HP:0012070 | Chondroitin sulfate excretion in urine |
