Deutsch
IllnessMannosidase deficiency; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Mannosidase deficiency comprising 1 guideline-curated gene and altogether 13 curated genes according to the clinical signs
ID
MP0259
Number of loci
| Locus type | Count |
|---|---|
| Gen | 12 |
Examined sequence length
3,1 kb (Core-/Core-canditate-Genes)
26,2 kb (Extended panel: incl. additional genes)
26,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| MAN2B1 | 3036 | NM_000528.4 | AR | |
| ABCC9 | 4650 | NM_005691.4 | AR | |
| ARSB | 1602 | NM_000046.5 | AR | |
| GALNS | 1569 | NM_000512.5 | AR | |
| GLB1 | 2034 | NM_000404.4 | AR | |
| GNE | 2262 | NM_001128227.3 | AR | |
| GNPTAB | 3771 | NM_024312.5 | AR | |
| GUSB | 1956 | NM_000181.4 | AR | |
| IDS | 1653 | NM_000202.8 | XLR | |
| KCNJ8 | 1275 | NM_004982.4 | AD | |
| NEU1 | 1248 | NM_000434.4 | AR | |
| SUMF1 | 1125 | NM_182760.4 | AR |
Informations about the disease
Synonyms
- Alias: Alpha-Mannosidose (MAN2B1)
- Alias: Alpha-mannosidase B deficiency
- Alias: Beta-mannosidosis
- Alias: Lysosomal alpha-D-mannosidase deficiency
- Alias: Lysosomal beta-mannosidase deficiency
- Allelic: Atrial fibrillation, familial, 12 (ABCC9)
- Allelic: Cardiomyopathy, dilated, 1O (ABCC9)
- Allelic: Nonaka myopathy (GNE)
- Cantu syndrome (ABCC9, KCNJ8)
- GM1-gangliosidosis, type I - III (GLB1)
- Hypertrichotic osteochondrodysplasia (ABCC9)
- Mannosidosis, alpha-, types I + II (MAN2B1)
- Mannosidosis, beta (MANBA)
- Mucolipidosis II alpha/beta (GNPTAB)
- Mucolipidosis III alpha/beta (GNPTAB)
- Mucopolysaccharidosis II (IDS)
- Mucopolysaccharidosis IVA (GALNS)
- Mucopolysaccharidosis Ih (IDUA)
- Mucopolysaccharidosis Ih/s (IDUA)
- Mucopolysaccharidosis Is (IDUA)
- Mucopolysaccharidosis VII (GUSB)
- Mucopolysaccharidosis type IVB [Morquio] (GLB1)
- Mucopolysaccharidosis type VI [Maroteaux-Lamy] (ARSB)
- Multiple sulfatase deficiency (SUMF1)
- Sialidosis, type I (NEU1)
- Sialidosis, type II (NEU1)
- Sialuria (GNE)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined