IllnessAmelogenesis imperfecta, differential diagnosis

NGS +

Amelogenesis imperfecta is a condition characterized by abnormally small, discolored, pitted or grooved teeth that are prone to rapid wear and fracture and/or additional dental abnormalities. These variable defects can affect, both, the primary and the permanent teeth. More than two dozen forms have been described as distinguished by their specific dental abnormalities and by their pattern of inheritance. Amelogenesis imperfecta can occur in isolation and without other symptoms or as part of a syndrome, like in dystrophic or junctional epidermolysis bullosa. For example, mutations in the AMELX, ENAM, MMP20 and FAM83H genes can lead to abnormal tooth development and account for ~50% of cases, with mutations in the FAM83H gene causing most of these. Amelogenesis imperfecta can have different inheritance patterns. ~5% of cases of amelogenesis imperfecta are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. Other cases are due to de novo gene mutations. Therefore, negative molecular genetic test results do not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK572295/

• 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)