The AMELX gene encodes for the structural modeling protein, amelogenin, which works with other amelogenesis-related proteins to direct the mineralisation of enamel. (wikipedia.org)
Computational approach towards identification of pathogenic missense mutations in AMELX gene and their possible association with amelogenesis imperfecta. (cdc.gov)
Amelogenesis Imperfecta via AMELX Gene Sequencing with CNV Detection. (mendelian.co)
Genotype-phenotype correlations1
The identification of novel genes and of rare, highly penetrant pathogenic variants is helping to enhance our understanding of genotype-phenotype correlations. (mdpi.com)
Correlations1
Performing a molecular diagnosis enables the patient and their family to receive appropriate genetic counseling, to obtain a better understanding of the patient's prognosis, and to establish correlations between their genotype and phenotype. (ipcares.org)
Genes3
Amelogenesis is a highly intricate biomineralizing process controlled by the expression of several genes [ 2 ]. (biomedcentral.com)
A large number of NDD genes have been identified in cases where varying phenotypes depend on the type of inheritance (for example, dominant or recessive), the nature (for example missense or truncating) or location of the mutation. (mdpi.com)
A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. (edu.sa)
Genotypes and Phenotypes1
Please see alpha 1-antitrypsin for a discussion of the various genotypes and phenotypes associated with A1AD. (the-medical-dictionary.com)
Pattern of inheritance1
The diagnosis of amelogenesis imperfecta involves the exclusion of environmental factors and the establishment of a likely pattern of inheritance, recognition of the phenotype and correlation with enamel formation. (bvsalud.org)
Amelogenesis imperfecta (AI) is a mineralization defect with an overall estimated incidence of 1/700 to 1/14 000. (genedent.com)
Mutations1
Other cases of amelogenesis imperfecta result from new gene mutations and occur in people with no history of the disorder in their family. (medlineplus.gov)
Variants1
The human gene mutation database (HGMD, 2019) has a record of five pathogenic variants in SLC24A4 , causing AI phenotype. (biomedcentral.com)
Gene2
Amelogenesis imperfecta can have different inheritance patterns depending on the gene that is altered. (medlineplus.gov)
ID#: 3893740, "Amelogenesis Imperfecta Protects Against Dental Caries," 2023 IADR/LAR General Session & Exhibition with WCPD. (llu.edu)
Enamel6
230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI), a developmental enamel defect. (bmj.com)
The AI phenotype was consistent with enamel of near normal thickness and variable focal hypoplasia with surface irregularities including pitting. (bmj.com)
Amelogenin is an extracellular matrix protein involved in the process of amelogenesis, the formation of enamel on teeth. (wikipedia.org)
Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and composition. (biomedcentral.com)
4q13.3) encodes a glycine, leucine, and proline-rich enamel matrix protein called ameloblastin, a second most abundant protein expressed during amelogenesis. (biomedcentral.com)
Amelogenesis imperfecta is a hereditary disease that disrupts enamel formation, affecting both the deciduous and permanent teeth. (bvsalud.org)
Syndrome1
Additionally, amelogenesis imperfecta can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body. (medlineplus.gov)
Onset1
Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. (beds.ac.uk)
Clinical3
Patient phenotypes were assessed by clinical examination and analyses of affected teeth. (bmj.com)
The study of the genotype-phenotype correlation is not simple in recently-described genetic syndromes, with limited numbers of clinical cases, but it is very important for the clinician, who has to interpret the genetic results and organize the follow-up for children with genetic syndromes. (mdpi.com)
Phenotypes or the clinical presentation may show a degree of severity and this may be one of the reasons for discrepancy in analysis and interpretation of results. (genedent.com)
Amelogenesis imperfecta and related disorders Deletion/ Duplication panel. (mendelian.co)
Disease2
Identification of a monogenic cause of kidney stone disease facilitates optimal stone prevention management and identification of associated phenotypes. (nature.com)
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. (mousephenotype.org)
Dental2
In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition. (medlineplus.gov)
Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. (nih.gov)
Patient1
The aim of this paper is to report a case of aesthetic and functional rehabilitation of a patient with amelogenesis imperfecta and immunosuppressant-induced gingival hyperplasia using composite resins. (bvsalud.org)
Patients2
Amelogenesis imperfecta (AI) was described in 90% of patients, nephrocalcinosis in 62.5%, polyuria in 55.5%, proximal muscle weakness in 55.5%, and rickets in two patients. (ipcares.org)
Affected individuals often have a clinically recognizable phenotype including a typical facial gestalt, feeding problems, seizures, hypertonia, gait disturbances, and foot anomalies. (beds.ac.uk)
The Burmese phenotype, which is the mildest form of albinism, is characterized by a normal pigmentation of the extremities and a slight shading of normal body colour. (labogen.com)
Significant1
Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured. (mousephenotype.org)
Panel1
Amelogenesis Imperfecta Sequencing Panel with CNV Detection. (mendelian.co)
Individuals1
In individuals with PiSS, PiMZ and PiSZ phenotypes, blood levels of AAT are reduced to between 40 and 60 % of normal levels. (the-medical-dictionary.com)