Phenotypes associated with the disease dentin dysplasia type II (OMIM:125420):
- Thistle tube shaped pulp (HP:0033790): A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations. Evidence: PCS. Frequency: 1/1. (PMID:12354781)
- Pulp calcification (HP:0003771): Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies. Evidence: TAS. (OMIM:125420)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 7/7. (PMID:12354781)
- Dentinogenesis imperfecta limited to primary teeth (HP:0011060): Developmental dysplasia of dentin affecting only the primary dentition. Evidence: PCS. Frequency: 7/7. (PMID:12354781)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:12354781)