aspartylglucosaminuria

Summary
Synonym
  • aspartylglucosaminidase deficiency
  • aspartylglycosaminuria
  • glycosylasparaginase deficiency
Definition
A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.
Super Class
lysosomal storage disease
External Links
Disease Ontology
DOID:0050461
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
175 AGA aspartylglucosaminidase
1118 CHIT1 chitinase 1
1589 CYP21A2 cytochrome P450 family 21 subfamily A member 2
2517 FUCA1 alpha-L-fucosidase 1
2720 GLB1 galactosidase beta 1
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
4125 MAN2B1 mannosidase alpha class 2B member 1
4758 NEU1 neuraminidase 1
5476 CTSA cathepsin A
The Human Phenotype Ontology
Displaying entries 1 - 10 of 75 in total
HPO ID HPO Term
HP:0000023 Inguinal hernia
HP:0000053 Macroorchidism
HP:0000158 Macroglossia
HP:0000164 Abnormality of the dentition
HP:0000212 Gingival overgrowth
HP:0000280 Coarse facial features
HP:0000303 Mandibular prognathia
HP:0000316 Hypertelorism
HP:0000389 Chronic otitis media
HP:0000431 Wide nasal bridge
Displaying 1 entry
Gene ID Gene Symbol Description
175 AGA aspartylglucosaminidase

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Last updated: August 19, 2024