Dentin dysplasia (DD/DTDP) is a rare hereditary disturbance of dentin formation. Dentin dysplasia is divided into two main classes based on the clinical and radiographic appearance, type I (DD1/DTDP1) and type II (DD2/DTDP2). Type 1 is referred to as radicular dentin dysplasia and type 2 as coronal dentin dysplasia.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the face, mouth or teeth
LA30 Structural developmental anomalies of teeth and periodontal tissues
H02348 Dentin dysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular processes
nt06548 Integrin signaling
H02348 Dentin dysplasia
Yang Q, Chen D, Xiong F, Chen D, Liu C, Liu Y, Yu Q, Xiong J, Liu J, Li K, Zhao L, Ye Y, Zhou H, Hu L, Tian Z, Shang X, Zhang L, Wei X, Zhou W, Li D, Zhang W, Xu X
Title
A splicing mutation in VPS4B causes dentin dysplasia I.
Xiong F, Ji Z, Liu Y, Zhang Y, Hu L, Yang Q, Qiu Q, Zhao L, Chen D, Tian Z, Shang X, Zhang L, Wei X, Liu C, Yu Q, Zhang M, Cheng J, Xiong J, Li D, Wu X, Yuan H, Zhang W, Xu X
Title
Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I.
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization.
