English
ErkrankungBrooke-Spiegler-Syndrom ["CYLD cutaneous syndrome"], Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Brooke-Spiegler-Syndrom mit zusammen genommen 9 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
BP9239
Anzahl Gene
9
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
29,2 kb (Core-/Basis-Gene)
33,5 kb (Erweitertes Panel)
33,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| CYLD | 2871 | AD | |
| FLCN | 1740 | AD und/oder SMu und/oder Sus | |
| HR | 3570 | AD und/oder AR | |
| NF1 | 8457 | AD und/oder SMu und/oder Sus | |
| PLCD1 | 2334 | AD und/oder AR | |
| PTEN | 1212 | AD und/oder SMu und/oder Sus | |
| TSC1 | 3495 | AD und/oder Sus | |
| TSC2 | 5424 | AD und/oder Sus | |
| PTCH1 | 4344 | AD und/oder SMu |
Infos zur Erkrankung
Synonyme
- Alias: CYLD Cutaneous Syndrome
- Alias: Familial Cylindromatosis
- Alias: Multiple Familial Trichoepithelioma
- Allelic: Alopecia universalis (HR)
- Allelic: Colorectal cancer, somatic (FLCN)
- Allelic: Cowden syndrome 1 (PTEN)
- Allelic: Focal cortical dysplasia, type II, somatic (TSC1, TSC2)
- Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (CYLD)
- Allelic: Glioma susceptibility 2 (PTEN)
- Allelic: Holoprosencephaly 7 (PTCH1)
- Allelic: Leukemia, juvenile myelomonocytic (NF1)
- Allelic: Lymphangioleiomyomatosis (TSC1)
- Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
- Allelic: Macrocephaly/autism syndrome (PTEN)
- Allelic: Meningioma (PTEN)
- Allelic: Pneumothorax, primary spontaneous (FLCN)
- Allelic: Prostate cancer, somatic (PTEN)
- Allelic: Renal carcinoma, chromophobe, somatic (FLCN)
- Atrichia with papular lesions (HR)
- Basal cell carcinoma, somatic (PTCH1)
- Basal cell nevus syndrome (PTCH1)
- Birt-Hogg-Dube syndrome (FLCN)
- Brooke-Spiegler syndrome (CYLD)
- Cylindromatosis, familial (CYLD)
- Lhermitte-Duclos syndrome (PTEN)
- Nail disorder, nonsyndromic congenital, 3 [leukonychia] (PLCD1)
- Neurofibromatosis, familial spinal (NF1)
- Neurofibromatosis, type 1 (NF1)
- Neurofibromatosis-Noonan syndrome (NF1)
- Trichoepithelioma, multiple familial, 1 (CYLD)
- Tuberous sclerosis-1 (TSC1)
- Tuberous sclerosis-2 (TSC2)
- Watson syndrome (NF1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder SMu
- AD und/oder SMu und/oder Sus
- AD und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
L98.8
Bioinformatik und klinische Interpretation
Kein Text hinterlegt