Possible Causes for defective enamel formation Costello Syndrome MEK1/2 inhibition rescued the hypo-mineralized enamel, normalized the ameloblast polarity defect and restored normal progenitor cell proliferation. [ncbi.nlm.nih.gov] We demonstrate for the first time the central role of Ras signaling in enamel formation in CS individuals and present the mouse incisor as a model system to dissect the roles [ncbi.nlm.nih.gov] To determine through which pathway Ras affects enamel formation, inhibitors targeting either PI3K or MEK 1 and 2 (MEK 1/2), kinases in the MAPK pathway, were utilized. [ncbi.nlm.nih.gov] Amelogenesis Imperfecta Type 2A5 Related phenotypes are carious teeth and amelogenesis imperfecta UniProtKB/Swiss-Prot : 75 Amelogenesis imperfecta, hypomaturation type, 2A5: A defect of enamel formation. [malacards.org] […] of enamel formation. [genecards.org] […] associations of SNPs for SLC24A4 - elite association - COSMIC cancer census association via MalaCards Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5) [MIM:615887]: A defect [genecards.org] Enamel Hypoplasia Abstract A discrete area of defective enamel formation that appears on the labial surface of the crowns of deciduous canine teeth has been described in both recent and prehistoric [ncbi.nlm.nih.gov] […] is hard but thin and deficient in amount as a result of defective enamel matrix formation with a shortage of the cementing substance. [medical-dictionary.thefreedictionary.com] Enamel hypoplasia is a defect of the teeth in which the enamel is deficient in amount, caused by defective enamel matrix formation. [en.wikipedia.org] Amelogenesis Imperfecta Type 1E UniProtKB/Swiss-Prot : 75 Amelogenesis imperfecta 1F: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. [malacards.org] There are nearly 100 hereditary conditions that affect enamel formation. [uncch.pure.elsevier.com] AI is characterized by the defect in enamel formation, resulting in defective mineralization or formation of the matrix. [ijsronline.net] Amelogenesis Imperfecta Type 1C […] is hard but thin and deficient in amount as a result of defective enamel matrix formation with a shortage of the cementing substance. [medical-dictionary.thefreedictionary.com] enamel formation can be explained as defects occurring at the stages of enamel formation. [jisppd.com] […] of enamel formation. [genecards.org] Hereditary Disturbances in Tooth Structure Abstract Defective enamel formation can be explained as defects occurring at the stages of enamel formation. [ncbi.nlm.nih.gov] OBJECTIVE: Hereditary defects in tooth enamel formation, amelogenesis imperfecta (AI), can be non-syndromic or syndromic phenotype. [ncbi.nlm.nih.gov] Abstract Amelogenesis imperfecta (AI) is a developmental defect of dental enamel formation. This enamel defect can be caused by mutation in ENAM gene. [ncbi.nlm.nih.gov] Premature Tooth Eruption HYPOPLASIA: defective enamel formation resulting in grooves, pits, and fissures on the enamel surface due to a disturbance in enamel formation. [discovery.lifemapsc.com] […] year and continue to appear until early adulthood Malformations of the teeth generally are not visible at birth because the teeth do not erupt until after birth (usually) ENAMEL [discovery.lifemapsc.com] Celiac Disease […] seen in the maxillary and mandibular incisors and molars.6 Teeth may be discolored with white, yellow, or brown spots.6 Other specific defects may include poor enamel formation [ada.org] Dental enamel defects are common in children who develop symptoms of celiac disease before 7 years of age. [jcda.ca] […] result of hypoplasia, and most commonly occur in the permanent dentition.4 These defects tend to occur symmetrically and chronologically in all four quadrants, with the most defects [ada.org] Syphilis Hypoplastic defects are produced by incomplete development of the tooth enamel and can be due to any number of causes. [ncbi.nlm.nih.gov] Mulberry molars, also produced by incomplete development, have an irregular formation of the cusps, which makes the chewing surface resemble a mulberry. [ncbi.nlm.nih.gov] Kohlschütter-Tönz Syndrome […] range of clinical phenotypes. 1,2,3 The structural defects of AI may occur at the time of formation of the organic matrix, mineralization of the matrix or maturation of enamel [slda.lk] AI is a heterogeneous group of developmental diseases that affect the formation, structure and clinical appearance of enamel. [karger.com] formation. [slda.lk] Dental Caries Dental enamel defects are common in children who develop symptoms of celiac disease before 7 years of age. [web.archive.org] Under this alternative hypothesis, prevention of dental caries must focus on preventing the formation of dental defects during odontogenesis, by repairing the defects from [doi.org] A hiatus in enamel and dentin formation can occur at a developmental stage corresponding to the onset of gastrointestinal symptoms. [web.archive.org] Myelodysplasia These children, however, are at greater risk for periodontal disease than the general population because of their disabilities and potential defects in the developmental formation [go.galegroup.com] […] of their enamel.(11) At the Childrens' Hospital of Philadelphia, a large percentage of these children present to the dental clinic with both dental caries and latex allergy [go.galegroup.com] Cysts and Fistulae of the Face and Oral Cavity Read More Enamel Hypoplasia – Enamel hypoplasia is a disturbance in the tooth’s development that causes incomplete or defective formation of the outer enamel layer of forming [centralparkdentistry.com] Junctional Epidermolysis Bullosa defects in tooth enamel formation without other systemic manifestations. [ncbi.nlm.nih.gov] The teeth, the changes have been described as deformities, birth defects and abnormal formation of enamel. [oatext.com] Early dental intervention is important in JEB children (because of underlying enamel defects) so that permanent dentition is not lost as a result of severe caries formation [dermatologyadvisor.com] Cerebral Palsy However, they also have more enamel defects than other children, which may make their teeth more susceptible to decay. [healthychildren.org] In addition, some medications such as seizure or asthma drugs may contribute to cavity formation. [healthychildren.org] Amelogenesis Imperfecta Type 2A6 Definition A defect of enamel formation. The disorder involves both primary and secondary dentitions. [uniprot.org] UniProtKB/Swiss-Prot : 73 Amelogenesis imperfecta, hypomaturation type, 2A6: A defect of enamel formation. The disorder involves both primary and secondary dentitions. [malacards.org] Amelogenesis Imperfecta Type 1A UniProtKB/Swiss-Prot : 73 Amelogenesis imperfecta 1A: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. [malacards.org] Amelogenesis Imperfecta Type 2A4 Definition A defect of enamel formation. The disorder involves both primary and secondary dentitions. [uniprot.org] UniProtKB/Swiss-Prot : 73 Amelogenesis imperfecta, hypomaturation type, 2A4: A defect of enamel formation. The disorder involves both primary and secondary dentitions. [malacards.org] […] of enamel formation. [genecards.org] Amelogenesis Imperfecta Type 1H UniProtKB/Swiss-Prot : 73 Amelogenesis imperfecta 1H: A disorder characterized by defective enamel formation, resulting in hypoplastic and hypomineralized tooth enamel that [malacards.org] Definition A disorder characterized by defective enamel formation, resulting in hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored. [uniprot.org] Type III: Hypocalcified In this type, a defect occurs in the initial stages of enamel formation. The enamel may have a normal thickness, but it’s too soft. [healthline.com] Amelogenesis Imperfecta Type 4 UniProtKB/Swiss-Prot : 73 Amelogenesis imperfecta 4: An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. [malacards.org] Description of the condition Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders characterised by defects in enamel formation of the teeth in the absence [cochranelibrary.com] Dental Disorder Amelogenesis Imperfecta and Dentinogenesis Imperfecta: Amelogenesis imperfecta, an inherited disorder, results in the defective formation of tooth enamel, the hard surface [yourdentistryguide.com] Drinking water having more than 1.5 ppm of fluoride can give rise to enamel defects and discoloration of teeth, leading to endemic fluorosis in the population. [ncbi.nlm.nih.gov] Defective dentin causes the normal enamel layer covering it to flake off. [yourdentistryguide.com] Ameloblastoma enamel formation -- Defects of deciduous teeth -- Defects of permanent teeth -- Amelogenesis imperfecta -- Chronological hypoplasia -- Molar-incisor hypomineralisation -- [worldcat.org] Defective dentine formation -- Osteogenesis imperfecta with opalescent teeth -- Dentinogenesis imperfecta -- Dentinal dysplasia ( rootless' teeth) -- Defects of enamel and [worldcat.org] Disorders of tooth development -- Abnormalities in the number of teeth -- Anodontia and oligodontia -- Additional teeth: hyperdontia -- Syndromes associated with hyperdontia -- Defective [worldcat.org] Oculodentodigital Dysplasia A group of hereditary conditions, termed the ectodermal dysplasias, may also be a cause for defective enamel formation, with missing teeth and hair problems being the usual [symptoma.com] Amelogenesis imperfecta is another rare congenital condition in which defective formation of the tooth enamel results in the teeth being more sensitive to extremes of temperature [symptoma.com] Adamantinoma enamel formation -- Defects of deciduous teeth -- Defects of permanent teeth -- Amelogenesis imperfecta -- Chronological hypoplasia -- Molar-incisor hypomineralisation -- [worldcat.org] Defective dentine formation -- Osteogenesis imperfecta with opalescent teeth -- Dentinogenesis imperfecta -- Dentinal dysplasia ( rootless' teeth) -- Defects of enamel and [worldcat.org] Disorders of tooth development -- Abnormalities in the number of teeth -- Anodontia and oligodontia -- Additional teeth: hyperdontia -- Syndromes associated with hyperdontia -- Defective [worldcat.org] Amelogenesis Imperfecta Type 2A1 Definition A defect of enamel formation. The disorder involves both primary and secondary dentitions. [uniprot.org] Type III: Hypocalcified In this type, a defect occurs in the initial stages of enamel formation. The enamel may have a normal thickness, but it’s too soft. [healthline.com] formation. [aegisdentalnetwork.com] Renal Tubular Acidosis formation and calcification. [2], [3], [4] The association between AI and nephrocalcinosis is also established. [2], [4] AI is the result of many inherited defects of enamel [jpediatrdent.org] formation that affects quantity and quality of enamel and might be identified in all or some teeth in the deciduous and/or permanent dentition. [2], [4] Amelogenin, enamelin [jpediatrdent.org] […] here to view Discussion Dental alterations are described in different renal tubular disorders (Bartter syndrome, Fanconi syndrome, and dRTA), particularly those related to enamel [jpediatrdent.org] Rieger Syndrome We demonstrate that during normal tooth development Pitx2 activates Amelogenin (Amel) expression, whose product is required for enamel formation, and that this regulation [ncbi.nlm.nih.gov] In this report, we outline the transcriptional mechanism that is defective in ARS. [ncbi.nlm.nih.gov] Tricho-Dento-Osseous Syndrome […] of enamel formation associated with enlarged pulp chambers. [genecards.org] AI4 is an autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Sequence similarities Belongs to the distal-less homeobox family. [abcam.com] Disease description An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced. [uniprot.org] Distal Renal Tubular Acidosis […] of dental enamel formation characterized by both clinical and genetic heterogeneity. [indianjnephrol.org] Its pathogenic mechanism is poorly understood, but it has been related to a low ability of the H K ATPase pump in the collecting duct. [9] AI is a group of inherited defects [indianjnephrol.org] Hypohidrotic Ectodermal Dysplasia No previous study reported the occurrence of defects in enamel formation in patients with BS. [cyberleninka.org] […] in enamel formation. [indianjnephrol.org] Dental defects: Abnormal morphogenesis or absence of teeth as well as enamel defects may occur. [13] Nail dystrophy: Abnormal nail plate formation may result in brittle, thin [emedicine.medscape.com]
