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IllnessSialinic acid storage disorder, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Sialic acid storage, differential diagnosis, disease comprising 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
E88.8
Bioinformatics and clinical interpretation
No text defined