amelogenesis imperfecta type 1G
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.
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0019507
amelogenesis imperfecta
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
generalized enamel hypoplasia and renal dysfunction
related
AI1G
exact
AIGFS
exact
ERS
exact
FAM20A amelogenesis imperfecta
exact
absent enamel, nephrocalcinosis and apparently normal calcium metabolism
related
amelogenesis imperfecta and gingival fibromatosis syndrome
exact
amelogenesis imperfecta and nephrocalcinosis
related
amelogenesis imperfecta caused by mutation in FAM20A
exact
amelogenesis imperfecta hypoplastic type, IG
related
amelogenesis imperfecta nephrocalcinosis
related
amelogenesis imperfecta, type IG
related
amelogenesis imperfecta, type IG (enamel-renal syndrome)
exact
amelogenesis imperfecta-gingival hyperplasia syndrome
exact
enamel renal syndrome
related
enamel-renal syndrome
exact
enamel-renal-gingival syndrome
exact
ers
exact
generalised enamel hypoplasia and renal dysfunction
related