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NGLY1-deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.
Uniprot Description A multisystem disorder characterized by developmental delay, hypotonia, abnormal involuntary movements and alacrima or poor tear production. Other features include microcephaly, intractable seizures, abnormal eye movements and evidence of liver dysfunction, probably due to cytoplasmic accumulation of storage material in vacuoles.
Disease Ontology Description A carbohydrate metabolic disorder that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. It is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production.
Mondo Term and Equivalent IDs
MONDO:0014109:  NGLY1-deficiency
GARD:0012315: 
NCIT:C126746: 
Orphanet:404454: 
SCTID:768846004: 
UMLS:C3808991: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)