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
Displaying all 3 entries
Gene ID Gene Symbol Description Source
5236 PGM1 phosphoglucomutase 1
55768 NGLY1 N-glycanase 1
64772 ENGASE endo-beta-N-acetylglucosaminidase
The Human Phenotype Ontology
Displaying entries 51 - 60 of 128 in total
HPO ID HPO Term
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0003086 Acromesomelia
HP:0003121 Limb joint contracture
HP:0003447 Axonal loss
HP:0003563 Decreased LDL cholesterol concentration
HP:0003785 Decreased CSF homovanillic acid concentration
HP:0003834 Shoulder dislocation
HP:0004349 Reduced bone mineral density
HP:0005484 Secondary microcephaly
HP:0005543 Reduced protein C activity
Displaying 1 entry
Gene ID Gene Symbol Description
55768 NGLY1 N-glycanase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024