Deutsch
IllnessUrofacial syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Urofacial [Ochoa] syndrome comprising 2 or altogether 9 curated genes according to the clinical signs
ID
UP5550
Number of genes
9
Accredited laboratory test
Examined sequence length
4,9 kb (Core-/Core-canditate-Genes)
22,9 kb (Extended panel: incl. additional genes)
22,9 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 |
|---|---|---|---|---|
| HPSE2 | 1605 | NM_001166244.1 | AR | |
| LRIG2 | 3198 | NM_014813.3 | AR | |
| ACTA2 | 1134 | NM_001613.4 | AD | |
| ACTG2 | 1131 | NM_001615.4 | AD | |
| CHRM3 | 1773 | NM_000740.4 | AR | |
| LMOD1 | 1806 | NM_012134.3 | AR | |
| MYH11 | 5919 | NM_002474.3 | AR | |
| MYL9 | 522 | NM_006097.5 | AR | |
| MYLK | 5745 | NM_053025.4 | AR |
Informations about the disease
Synonyms
- Alias: Ochoa syndrome
- Allelic: Aortic aneurysm, familial thoracic 4 (MYH11)
- Allelic: Aortic aneurysm, familial thoracic 6 (ACTA2)
- Allelic: Aortic aneurysm, familial thoracic 7 (MYLK)
- Allelic: Moyamoya disease 5 (ACTA2)
- Allelic: Visceral myopathy 2 (MYH11)
- Megacystis-microcolon-intestinal hypoperistalsis syndrome (MYLK)
- Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MYH11)
- Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 (LMOD1)
- Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 (MYL9)
- Multisystemic smooth muscle dysfunction syndrome (ACTA2)
- Prune belly syndrome (CHRM3)
- Urofacial syndrome 1 (HPSE2)
- Urofacial syndrome 2 (LRIG2)
- Visceral myopathy (ACTG2)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined