ErkrankungMultiple gutartige Hauttumore, monogen bedingt; Differentialdiagnose

NGS +

[Sanger]

• Allelic: Alopecia universalis (HR)
• Allelic: Basal ganglia calcification, idiopathic, 4 (PDGFRB)
• Allelic: Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
• Allelic: Colorectal cancer, somatic (FLCN)
• Allelic: Endometrial cancer, familial (MSH6)
• Allelic: Frontotemporal dementia and/or amytrophic lateral sclerosis 8 (CYLD)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Holoprosencephaly 7 (PTCH1)
• Allelic: Kosaki overgrowth syndrome (PDGFRB)
• Allelic: Lateral meningocele syndrome (NOTCH3)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Lymphangioleiomyomatosis (TSC1)
• Allelic: Macrocephaly
• Allelic: Meningioma (PTEN)
• Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
• Allelic: Neurofibromatosis, familial spinal (NF1)
• Allelic: Pneumothorax, primary spontaneous (FLCN)
• Allelic: Renal carcinoma, chromophobe, somatic (FLCN)
• Atrichia with papular lesions (HR)
• Basal cell nevus syndrome (PTCH1)
• Birt-Hogg-Dube syndrome (FLCN)
• Brooke-Spiegler syndrome (CYLD)
• Buschke-Ollendorff syndrome (LEMD3)
• Cowden syndrome 1 (PTEN)
• Cylindromatosis, familial (CYLD)
• Lhermitte-Duclos syndrome (PTEN)
• Mismatch repair cancer syndrome 1 (MLH1)
• Mismatch repair cancer syndrome 2 (MSH2)
• Mismatch repair cancer syndrome 3 (MSH6)
• Mismatch repair cancer syndrome 4 (PMS2)
• Muir-Torre syndrome (MLH1, MSH2)
• Myofibromatosis, infantile 2 (NOTCH3)
• Myofibromatosis, infantile, 1 (PDGFRB)
• Nail disorder, nonsyndromic congenital, 3, [leukonychia; pilar trichol,mmal cysts] (PLCD1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis-Noonan syndrome (NF1)
• Osteopoikilosis with/-out melorheostosis (LEMD3)
• Premature aging syndrome, Penttinen type (PDGFRB)
• Trichoepithelioma, multiple familial, 1 (CYLD)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Watson syndrome (NF1)
• autism syndrome (PTEN)