Deutsch
IllnessIsolated Sulfite Oxidase Deficiency; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Isolated Sulfite Oxidase Deficiency containing 1 core gene and altogether 10 curated genes according to the clinical signs
ID
SP1324
Number of genes
9
Accredited laboratory test
Examined sequence length
1,7 kb (Core-/Core-canditate-Genes)
12,9 kb (Extended panel: incl. additional genes)
12,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| SUOX | 1638 | NM_000456.3 | AR | |
| ALDH7A1 | 1620 | NM_001182.5 | AR | |
| AMT | 1212 | NM_000481.4 | AR | |
| GCSH | 522 | NM_004483.5 | AR | |
| GLDC | 3063 | NM_000170.3 | AR | |
| GPHN | 2310 | NM_020806.5 | AD, AR | |
| MOCS1 | 1158 | NM_001075098.4 | AR | |
| MOCS2 | 567 | NM_004531.5 | AR | |
| PNPO | 786 | NM_018129.4 | AR |
Informations about the disease
Synonyms
- Alias: Enzephalopathie durch Sulfitoxidase-Mangel
- Alias: Isolated sulfite oxidase deficiency
- Alias: Sulfocysteinuria
- Cofactor deficiency, brain edema, lens luxation (MOCS3)
- Epilepsy, pyridoxine-dependent (ALDH7A1)
- Glycine encephalopathy (AMT, GCSH, GLDC)
- Molybdenum cofactor deficiency A (MOCS1)
- Molybdenum cofactor deficiency B (MOCS2)
- Molybdenum cofactor deficiency C (GPHN)
- Pyridoxamine 5'-phosphate oxidase deficiency (PNPO)
- Sulfite oxidase deficiency (SUOX)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined