Deutsch
IllnessAcid sphingomyelinase deficiency - Niemann-Pick disease type A; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Acid sphingomyelinase deficiency - Niemann-Pick disease, type A, comprising altogether 23 curated genes according to the clinical signs
ID
NP0919
Number of genes
24
Accredited laboratory test
Examined sequence length
1,9 kb (Core-/Core-canditate-Genes)
42,4 kb (Extended panel: incl. additional genes)
42,4 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 | Heredity |
|---|---|---|---|
| SMPD1 | 1896 | AR | |
| ASAH1 | 1188 | AR | |
| G6PC1 | 1074 | AR | |
| GALNS | 1569 | AR | |
| GBA1 | 1611 | AR | |
| GNPTAB | 3771 | AR | |
| GNPTG | 918 | AR | |
| GNS | 1659 | AR | |
| HEXA | 1590 | AR | |
| HEXB | 1671 | AR | |
| HGSNAT | 1908 | AR | |
| IDS | 1653 | XLR | |
| IDUA | 1962 | AR | |
| LIPA | 1200 | AR | |
| MCOLN1 | 1743 | AR | |
| NAGLU | 2232 | AR | |
| NPC1 | 3837 | AR | |
| NPC2 | 456 | AR | |
| PRF1 | 1668 | AR | |
| SGSH | 1509 | AR | |
| SLC37A4 | 1291 | AR | |
| STX11 | 864 | AR | |
| STXBP2 | 1773 | AR | |
| UNC13D | 3273 | AR |
Informations about the disease
Synonyms
- Alias: Acid sphingomyelinase deficiency (SMPD1)
- Allelic: Aplastic anemia (PRF1)
- Allelic: Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
- Allelic: Lewy body dementia, susceptibility to (GBA)
- Allelic: Lymphoma, non-Hodgkin (PRF1)
- Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
- Allelic: Retinitis pigmentosa 73 (HGSNAT)
- Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
- Cholesteryl ester storage disease (LIPA)
- Farber lipogranulomatosis (ASAH1)
- GM2-gangliosidosis, several forms (HEXA)
- Gaucher disease, perinatal lethal (GBA)
- Gaucher disease, types I, II, III, IIIC (GBA)
- Glycogen storage disease Ia (G6PC1)
- Glycogen storage diseases Ib + Ic (SLC37A4)
- Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
- Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
- Hemophagocytic lymphohistiocytosis, familial, 4 (STX11)
- Hemophagocytic lymphohistiocytosis, familial, 5 (STXBP2)
- Hex A pseudodeficiency (HEXA)
- Immune dysregulation + systemic hyperinflammation syndrome (RC3H1)
- Mucolipidosis II alpha/beta + III alpha/beta (GNPTAB)
- Mucolipidosis III gamma (GNPTG)
- Mucolipidosis IV (MCON)
- Mucopolysaccharidosis II (IDS)
- Mucopolysaccharidosis IVA (GALNS)
- Mucopolysaccharidosis Is Mucopolysaccharidosis Ih, Ih/s + Is (IDUA)
- Mucopolysaccharidosis type IIIA [Sanfilippo A] (SGSH)
- Mucopolysaccharidosis type IIIB [Sanfilippo B] (NAGLU)
- Mucopolysaccharidosis type IIIC [Sanfilippo C] (HGSNAT)
- Mucopolysaccharidosis type IIID (GNS)
- Niemann-Pick disease, type A + B (SMPD1)
- Niemann-Pick disease, type C2 (NPC2)
- Niemann-Pick disease, types C1 + D (NPC1)
- Sandhoff disease, infantile, juvenile, and adult forms /HEXB)
- Tay-Sachs disease (HEXA)
- 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