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IllnessSialinic acid storage disorder, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Sialic acid storage, differential diagnosis, disease containing 1 core gene and altogether 17 curated genes according to the clinical signs
ID
SP9438
Number of genes
17
Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-Genes)
32,3 kb (Extended panel: incl. additional genes)
32,3 kb (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 |
|---|---|---|---|---|
| SLC17A5 | 1488 | NM_012434.5 | AR | |
| AGA | 1041 | NM_000027.4 | AR | |
| ARSB | 1602 | NM_000046.5 | AR | |
| CTSA | 1497 | NM_000308.4 | AR | |
| FUCA1 | 1401 | NM_000147.5 | AR | |
| GALC | 2058 | NM_000153.4 | AR | |
| GBA1 | 1611 | NM_001005741.3 | AR | |
| GBA2 | 2784 | NM_020944.3 | AR | |
| GLB1 | 2034 | NM_000404.4 | AR | |
| GNPTAB | 3771 | NM_024312.5 | AR | |
| GUSB | 1956 | NM_000181.4 | AR | |
| IDS | 1653 | NM_000202.8 | XLR | |
| IDUA | 1962 | NM_000203.5 | AR | |
| LIPA | 1200 | NM_000235.4 | AR | |
| MAN2B1 | 3036 | NM_000528.4 | AR | |
| NEU1 | 1248 | NM_000434.4 | AR | |
| SMPD1 | 1896 | NM_000543.5 | AR |
Informations about the disease
Clinical Comment
Lysosomal storage disease with a spectrum of clinical manifestations of neurological + developmental disorders with severity ranging from mild, Salla disease to most severe, infantile free sialic acid storage disease
Synonyms
- Alias: Free sialic acid storage disease, infantile form (SLC17A5)
- Alias: Neuraminsäurespeicherkrankheit (SLC17A5)
- Alias: Salla disease (SLC17A5)
- Alias: Sialic acid storage disorder, infantile (SLC17A5)
- Allelic: Lewy body dementia, susceptibility to (GBA)
- Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
- Aspartylglucosaminuria (AGA)
- Cholesteryl ester storage disease (LIPA)
- Fucosidosis (FUCA1)
- GM1-gangliosidosis, types I, II, III (GLB1)
- Galactosialidosis (CTSA)
- Gaucher disease, perinatal lethal (GBA)
- Gaucher disease, types I, II, III, IIIC (GBA)
- Krabbe disease (GALC)
- Mannosidosis, alpha-, types I + II (MAN2B1)
- Mucolipidosis II alpha/beta (GNPTAB)
- Mucolipidosis III alpha/beta (GNPTAB)
- Mucopolysaccharidosis II (IDS)
- Mucopolysaccharidosis IVB [Morquio] (GLB1)
- Mucopolysaccharidosis Ih, Ih/s, Is (IDUA)
- Mucopolysaccharidosis VI [Maroteaux-Lamy] (ARSB)
- Mucopolysaccharidosis VII (GUSB)
- Niemann-Pick disease, types A, B (SMPD1)
- Sialidosis, types I, II (NEU1)
- Spastic paraplegia 46, AR (GBA2)
- Wolman disease (LIPA)
Heredity, heredity patterns etc.
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined