Klinische FragestellungBirt-Hogg-Dubé-Syndrom, Differentialdiagnose

NGS +

illness_ClinicalComment_BP8555

• Birt-Hogg-Dube syndrome (FLCN)
• Alias: Fibrofolliculomas with trichodiscomas + acrochordons
• Alias: Hornstein-Knickenberg-Syndrom (FLCN)
• 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)
• 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)