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GenetischePanel-Diagnostik

ErkrankungBirt-Hogg-Dubé-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Birt-Hogg-Dubé-Syndrom mit zusammen genommen 21 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
BP8555
Anzahl Gene
21 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,8 kb (Core-/Basis-Gene)
49,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
FLCN1740AD und/oder SMu und/oder Sus
BAP12190AD und/oder SMu und/oder Sus
CFTR4443AD und/oder AR
COL3A14401AD und/oder AR und/oder Mult
CYLD2871AD
FBN18616AD und/oder Mult
FH1533AD und/oder AR und/oder SMu und/oder Sus
MAX483AD und/oder Sus
MEN11833AD und/oder Sus
MET4227AD und/oder AR und/oder Sus
PTEN1212AD und/oder SMu und/oder Sus
SDHA1995AD und/oder AR und/oder Sus
SDHAF2501AD und/oder Sus
SDHB843AD und/oder Sus
SDHC510AD und/oder Sus
SDHD480AD und/oder AR und/oder Sus
SERPINA11257AR
TMEM127717AD und/oder Sus
TSC13495AD und/oder Sus
TSC25424AD und/oder Sus
VHL642AD und/oder AR und/oder SMu und/oder Sus

Infos zur Erkrankung

Synonyme
  • Alias: Birt-Hogg-Dube syndrome (FLCN)
  • Alias: Fibrofolliculomas with trichodiscomas + acrochordons
  • Alias: Hornstein-Knickenberg Syndrom
  • Allelic: Acromicric dysplasia (FBN1)
  • Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
  • Allelic: Colorectal cancer, somatic (FLCN)
  • Allelic: Congenital bilateral absence of vas deferens (CFTR)
  • Allelic: Ectopia lentis, familial (FBN1)
  • Allelic: Emphysema-cirrhosis, due to AAT deficiency (SERPINA1)
  • Allelic: Erythrocytosis, familial, 2 (VHL)
  • Allelic: Focal cortical dysplasia, type II, somatic (TSC1, TSC2)
  • Allelic: Fumarase deficiency (FH)
  • Allelic: Gastrointestinal stromal tumor (SDHB, SDHC)
  • Allelic: Geleophysic dysplasia 2 (FBN1)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Hemangioblastoma, cerebellar, somatic (VHL)
  • Allelic: Hemorrhagic diathesis due to antithrombin Pittsburgh (SERPINA1)
  • Allelic: Hypertrypsinemia, neonatal (CFTR)
  • Allelic: Leigh syndrome (SDHA)
  • Allelic: Lymphangioleiomyomatosis (TSC1)
  • Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
  • Allelic: MASS syndrome (FBN1)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Marfan lipodystrophy syndrome (FBN1)
  • Allelic: Meningioma (PTEN)
  • Allelic: Mitochondrial complex II deficiency (SDHD)
  • Allelic: Mitochondrial respiratory chain complex II deficiency (SDHA)
  • Allelic: Osteofibrous dysplasia, susceptibility to (MET)
  • Allelic: Pancreatitis, hereditary (CFTR)
  • Allelic: Pheochromocytoma (SDHB, SDHD, VHL)
  • Allelic: Polymicrogyria with/-out vascular-type EDS (COL3A1)
  • Allelic: Prostate cancer, somatic (PTEN)
  • Allelic: Stiff skin syndrome (FBN1)
  • Allelic: Sweat chloride elevation without CF (CFTR)
  • Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
  • Allelic: von Hippel-Lindau syndrome (VHL)
  • Bronchiectasis with/-out elevated sweat chloride 1, modifier of (CFTR)
  • Brooke-Spiegler syndrome (CYLD)
  • Carcinoid tumor of lung (MEN1)
  • Cowden syndrome 1 (PTEN)
  • Cylindromatosis, familial (CYLD)
  • Cystic fibrosis (CFTR)
  • Deafness, AR 97 (MET)
  • Ehlers-Danlos syndrome, vascular type (COL3A1)
  • Emphysema due to AAT deficiency (SERPINA1)
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (CYLD)
  • Hepatocellular carcinoma, childhood type, somatic (MET)
  • Leiomyomatosis + renal cell cancer (FH)
  • Lhermitte-Duclos syndrome (PTEN)
  • Marfan syndrome (FBN1)
  • Multiple endocrine neoplasia 1 (MEN1)
  • Paraganglioma + gastric stromal sarcoma (SDHB, SDHC, SDHD)
  • Paragangliomas 1, with/-out deafness (SDHD)
  • Paragangliomas 2 (SDHAF2)
  • Paragangliomas 3 (SDHC)
  • Paragangliomas 4 (SDHB)
  • Paragangliomas 5 (SDHA)
  • Pheochromocytoma, susceptibility to (MAX, TMEM127)
  • Pneumothorax, primary spontaneous (FLCN)
  • Renal carcinoma, chromophobe, somatic (FLCN)
  • Renal cell carcinoma, papillary, 1, familial + somatic (MET)
  • Renal cell carcinoma, somatic (VHL)
  • Trichoepithelioma, multiple familial, 1 (CYLD)
  • Tuberous sclerosis-1, -2 (TSC1, TSC2)
  • Tumor predisposition syndrome (BAP1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Mult
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Mult
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
F84.-

Bioinformatik und klinische Interpretation

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