Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
gptkb:NGLY1-CDDG
|
| gptkbp:associatedWith |
glycoprotein degradation
|
| gptkbp:category |
gptkb:congenital_disorder_of_deglycosylation
|
| gptkbp:causedBy |
biallelic loss-of-function mutations in NGLY1
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2012
|
| gptkbp:hasOrphanetID |
ORPHA:404447
|
| https://www.w3.org/2000/01/rdf-schema#label |
NGLY1 deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:NGLY1_gene
|
| gptkbp:OMIM |
615273
|
| gptkbp:prevalence |
ultra-rare
|
| gptkbp:researchInterest |
gene therapy
enzyme replacement therapy |
| gptkbp:symptom |
hypotonia
intellectual disability peripheral neuropathy seizures developmental delay movement disorder alacrima elevated liver transaminases |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:NGLD
|
| gptkbp:bfsLayer |
6
|