Dentinogenesis Imperfecta, Shields Type Iii (DGI3)

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OMIM 56 125500 MeSH 43 D003811 ICD10 via Orphanet 33 K00.5 UMLS via Orphanet 72 C0399378

Orphanet 58 ORPHA166265 MedGen 41 C0399378 SNOMED-CT via HPO 68 196286005 263681008 67504007 81407003 89988002 more

NIH Rare Diseases : ⁵² Dentinogenesis imperfecta type 3 is a rare and severe form of dentinogenesis imperfecta , a condition that affects tooth development. People affected by this condition generally have discolored (most often a blue-gray or yellow-brown color) and translucent teeth. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth. Dentinogenesis imperfecta type 3 is caused by changes (mutations ) in the DSPP gene which are inherited in an autosomal dominant manner. Treatment is usually focused on protecting primary (baby) and then permanent teeth with preformed pediatric crowns and other interventions. The replacement of teeth might be considered in the future with dentures and/or implants.

MalaCards based summary : Dentinogenesis Imperfecta, Shields Type Iii, also known as brandywine type dentinogenesis imperfecta, is related to dentinogenesis imperfecta and dentinogenesis imperfecta 1. An important gene associated with Dentinogenesis Imperfecta, Shields Type Iii is DSPP (Dentin Sialophosphoprotein). Affiliated tissues include bone and salivary gland, and related phenotypes are dentinogenesis imperfecta and anterior open-bite malocclusion

UniProtKB/Swiss-Prot : ⁷³ Dentinogenesis imperfecta, Shields type 3: A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI3 teeth typically manifest multiple periapical radiolucencies. DGI3 is not associated with osteogenesis imperfecta.

More information from OMIM: 125500

Clinical features from OMIM:

125500

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