Details of Disease

General Information of Disease (ID: DIS0XSEE)

Disease Name Galactosialidosis
Synonyms
cathepsin A deficiency of; lysosomal protective protein deficiency of; lysosomal protective Protein deficiency; neuraminidase/Beta-galactosidase expression; GSL; cathepsin A deficiency; PPCA deficiency; protective Protein/Cathepsin a deficiency; neuraminidase deficiency with beta-galactosidase deficiency; galactosialidosis; Goldberg syndrome
Definition
A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
Disease Hierarchy
DISB52BH: Eye disorder
DISZHA63: Lysosomal storage disease with skeletal involvement
DISFKZGQ: Oligosaccharidosis
DIS0XSEE: Galactosialidosis
Disease Identifiers
MONDO ID
MONDO_0009737
MESH ID
C536411
UMLS CUI
C0268233
OMIM ID
256540
MedGen ID
82779
Orphanet ID
351
SNOMED CT ID
35691006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CTSA TT5NILS Strong Genetic Variation [1]
GLB1 TTNGJPH Strong Genetic Variation [1]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CTSA DE14JZK Definitive Autosomal recessive [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AARS2 OTOB0KSG Strong Genetic Variation [3]
NEU1 OTH9BY8Y Strong Biomarker [4]
CTSA OT167UBM Definitive Autosomal recessive [2]
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References

1 Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.J Inherit Metab Dis. 2019 Mar;42(2):295-302. doi: 10.1002/jimd.12010. Epub 2019 Jan 28.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.J Perinat Med. 2018 Nov 27;46(9):968-974. doi: 10.1515/jpm-2017-0124.
4 Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease.Biochem Soc Trans. 2010 Dec;38(6):1453-7. doi: 10.1042/BST0381453.