ErkrankungAmelogenesis imperfecta, Differentialdiagnose

NGS +

Zahn- oder periodontale Erkrankung, Gruppe von Entwicklungsstörungen die Struktur + Klinik des Zahnenamels mehr oder weniger gleichartig betreffen; kann assoziiert sein mit anderen morphologischen + biochemischen Veränderungen

• Alias: Congenital enamel hypoplasia
• Alias: Enamel hypoplasia, XL
• Alias: Hypomaturation amelogenesis imperfecta with variable hypoplastic foci
• Alias: Hypoplastic amelogenesis imperfecta
• Alias: Smooth hypoplastic amelogenesis imperfecta
• Allelic: Epidermolysis bullosa, generalized atrophic benign (LAMA3)
• Allelic: Epidermolysis bullosa, junctional, Herlitz type (LAMA3)
• Allelic: Epidermolysis bullosa, junctional, Herlitz type (LAMB3)
• Allelic: Epidermolysis bullosa, junctional, localisata variant (COL17A1)
• Allelic: Epidermolysis bullosa, junctional, non-Herlitz type (COL17A1)
• Allelic: Epidermolysis bullosa, junctional, non-Herlitz type (LAMB3)
• Allelic: Epileptic encephalopathy, early infantile (SLC13A5)
• Allelic: Epithelial recurrent erosion dystrophy (COL17A1)
• Allelic: Geleophysic dysplasia 3 (LTBP3)
• Allelic: Heimler syndrome 1 (PEX1)
• Allelic: Heimler syndrome 2 (PEX6)
• Allelic: Immunodeficiency 10 (STIM1)
• Allelic: Immunodeficiency 9 (ORAI1)
• Allelic: Myopathy, tubular aggregate, 1 (STIM1)
• Allelic: Myopathy, tubular aggregate, 2 (ORAI1)
• Allelic: Skin/hair/eye pigmentation 6, blond/brown hair (SLC24A4)
• Allelic: Skin/hair/eye pigmentation 6, blue/green eyes (SLC24A4)
• Allelic: Stormorken syndrome (STIM1)
• Allelic: Zellweger syndrome 1A (PEX1)
• Allelic: Zellweger syndrome 4A (PEX6)
• Amelogenesis imperfecta, hypomaturation type, IIA6 (GPR68)
• Amelogenesis imperfecta, type IA (LAMB3)
• Amelogenesis imperfecta, type IB (ENAM)
• Amelogenesis imperfecta, type IC (ENAM)
• Amelogenesis imperfecta, type IE (AMELX)
• Amelogenesis imperfecta, type IF (AMBN)
• Amelogenesis imperfecta, type IG [enamel-renal syndrome] (FAM20A)
• Amelogenesis imperfecta, type IH (ITGB6)
• Amelogenesis imperfecta, type IIA1 (KLK4)
• Amelogenesis imperfecta, type IIA2 (MMP20)
• Amelogenesis imperfecta, type IIA3 (WDR72)
• Amelogenesis imperfecta, type IIA4 (ODAPH)
• Amelogenesis imperfecta, type IIA5 (SLC24A4)
• Amelogenesis imperfecta, type IIIA (FAM83H)
• Amelogenesis imperfecta, type IIIC (RELT)
• Amelogenesis imperfecta, type IJ (ACP4)
• Amelogenesis imperfecta, type IV (DLX3)
• Deafness, AD 39, with dentinogenesis (DSPP)
• Dental anomalies + short stature (LTBP3)
• Dentin dysplasia, type II (DSPP)
• Dentinogenesis imperfecta, Shields type II (DSPP)
• Dentinogenesis imperfecta, Shields type III (DSPP)
• Jalili syndrome [Cone-rod dystrophy + amelogenesis imperfecta] (CNNM4)
• Kohlschütter-Tönz syndrome [Epilepsy + yellow teeth] (ROGDI)
• Laryngoonychocutaneous syndrome (LAMA3)
• Raine syndrome [neonatal osteosclerotic bone dysplasia] (FAM20C)
• Short stature, amelogenesis imperfecta + skeletal dysplasia with scoliosis (SLC10A7)
• Tricho-donto-osseous syndrome (DLX3)