Deutsch
IllnessGalactosialidosis
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Galactosialidosis
ID
GS8171
Number of genes
1
Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| CTSA | 1497 | NM_000308.4 | AR |
Informations about the disease
Clinical Comment
Lysosomal storage disease with coarse face, macular cherry red spot, dysostosis multiplex; heterogenous symptoms: severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form
Synonyms
- Alias: Cathepsin A deficiency (CTSA)
- Alias: Galactosialidosis (CTSA)
- Alias: Goldberg syndrome (CTSA)
- Alias: Lysosomal protective protein deficiency (CTSA)
- Alias: Neuraminidase deficiency with beta-galactosidase deficiency (CTSA)
- Alias: PPCA deficiency (CTSA)
- Alias: Protective protein/Cathepsin A deficiency (CTSA)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined