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IllnessLowe syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Lowe syndrome comprising altogether 19 curated genes according to the clinical signs
ID
LP5211
Number of genes
19
Accredited laboratory test
Examined sequence length
2,8 kb (Core-/Core-canditate-Genes)
44,5 kb (Extended panel: incl. additional genes)
44,5 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 |
|---|---|---|---|---|
| OCRL | 2706 | NM_000276.4 | XLR | |
| CTNS | 1203 | NM_001031681.3 | AR | |
| DHCR7 | 1428 | NM_001360.3 | AR | |
| DMPK | 1920 | NM_001081563.2 | AD | |
| LRP2 | 13968 | NM_004525.3 | AR | |
| NHS | 4425 | NM_001136024.4 | XL | |
| PEX1 | 3852 | NM_000466.3 | AR | |
| PEX10 | 1041 | NM_153818.2 | AR | |
| PEX11B | 780 | NM_003846.3 | AR | |
| PEX12 | 1080 | NM_000286.3 | AR | |
| PEX13 | 1212 | NM_002618.4 | AR | |
| PEX14 | 1134 | NM_004565.3 | AR | |
| PEX16 | 1011 | NM_004813.4 | AR | |
| PEX19 | 900 | NM_002857.4 | AR | |
| PEX2 | 918 | NM_000318.3 | AR | |
| PEX26 | 918 | NM_017929.6 | AR | |
| PEX3 | 1122 | NM_003630.3 | AR | |
| PEX5 | 1920 | NM_001131025.2 | AR | |
| PEX6 | 2943 | NM_000287.4 | AR |
Informations about the disease
Clinical Comment
Multisystemic disease: congenital cataract, glaucoma, mental retardation, seizures, postnatal growth retardation, renal tubular dysfunction, chronic renal insufficiency
Synonyms
- Alias: Lowe oculo-cerebro-renal dystrophy; Lowe oculocerebrorenal syndrome
- Alias: Oculocerebrorenal syndrome of Lowe
- Alias: Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
- Allelic: Cataract 40, XL (NHS)
- Allelic: Dent disease 2 (OCRL)
- Cystinosis, atypical nephropathic (CTNS)
- Cystinosis, late-onset juvenile or adolescent nephropathic (CTNS)
- Cystinosis, nephropathic (CTNS)
- Cystinosis, ocular nonnephropathic (CTNS)
- Donnai-Barrow syndrome (LRP2)
- Heimler syndrome 1 (PEX1)
- Heimler syndrome 2 (PEX6)
- Lowe syndrome (OCRL)
- Myotonic dystrophy 1 (DMPK_CTG)
- Nance-Horan syndrome (NHS)
- Peroxisome biogenesis disorders (PEX1-PEX19)
- Smith-Lemli-Opitz syndrome (DHCR)
Heredity, heredity patterns etc.
- AD
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined