galactosialidosis

Summary
Definition
A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13.
Super Class
lysosomal storage disease
External Links
Disease Ontology
DOID:0080540
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2720 GLB1 galactosidase beta 1
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
4758 NEU1 neuraminidase 1
5476 CTSA cathepsin A
The Human Phenotype Ontology
Displaying entries 1 - 10 of 19 in total
HPO ID HPO Term
HP:0001249 Intellectual disability
HP:0007957 Corneal opacity
HP:0000365 Hearing impairment
HP:0002652 Skeletal dysplasia
HP:0000280 Coarse facial features
HP:0003468 Abnormal vertebral morphology
HP:0000925 Abnormality of the vertebral column
HP:0010729 Cherry red spot of the macula
HP:0001250 Seizure
HP:0000524 Conjunctival telangiectasia
Displaying 1 entry
Gene ID Gene Symbol Description
5476 CTSA cathepsin A

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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