disease has basis in dysfunction of FAM20A amelogenesis imperfecta type 1G AI1G AIGFS Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. DOID:0110066 FAM20A amelogenesis imperfecta GARD:0000646 GARD:0009860 ICD10:K00.5 ICD9:520.5 MESH:C538241 MONDO:0008771 OMIM:204690 Orphanet:1031 SCTID:109477002 absent enamel, nephrocalcinosis and apparently normal calcium metabolism amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta and nephrocalcinosis amelogenesis imperfecta caused by mutation in FAM20A amelogenesis imperfecta hypoplastic type, Ig amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta nephrocalcinosis amelogenesis imperfecta type Ig amelogenesis imperfecta, hypoplastic, with nephrocalcinosis amelogenesis imperfecta, type 1G amelogenesis imperfecta, type Ig amelogenesis imperfecta-nephrocalcinosis syndrome enamel renal syndrome enamel-renal syndrome enamel-renal-gingival syndrome ers generalized enamel hypoplasia and renal dysfunction malformation syndrome with odontal and/or periodontal component amelogenesis imperfecta nephropathy secondary to a storage or other metabolic disease