Amelogenesis Imperfecta (AI) malady
Genetic diseases, Rare diseases, Oral diseases, Nephrological diseases, Fetal diseases categories
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21Genetics Home Reference, 42NIH Rare Diseases, 65Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Amelogenesis imperfecta (ai) (amelogenesis -┬áenamel formation; imperfecta - imperfect)┬áis a disorder┬áthat affects the structure and┬áappearance of the enamel of the teeth. this condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage.┬áthese dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. there are┬á4 main types of ai that are classified based on the type of enamel defect.┬áthese 4 types are divided further into 14┬ásubtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance. ai can be inherited in an autosomal dominant, autosomal recessive or x-linked recessive pattern. last updated: 12/12/2013
MalaCards based summary: Amelogenesis Imperfecta, also known as congenital enamel hypoplasia, is related to dentinogenesis imperfecta and dentin dysplasia. An important gene associated with Amelogenesis Imperfecta is AMELX (amelogenin, X-linked). Affiliated tissues include kidney and skin, and related mouse phenotype craniofacial.
Genetics Home Reference:21 Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth.
Wikipedia:65 Amelogenesis imperfecta (AI) presents with a rare abnormal formation of the enamel or external layer of... more...
Descriptions from OMIM:46 613211, 104510, 204700, 130900, 612529 301200, 104500, 204650 more
Amelogenesis Imperfecta, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Oral diseases, Nephrological diseases
MalaCards organs/tissues related to Amelogenesis Imperfecta:32
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Cells/anatomical compartments in embryo or adult related to Amelogenesis Imperfecta:
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Cellular components related to Amelogenesis Imperfecta according to GeneCards/GeneDecks:
Biological processes related to Amelogenesis Imperfecta according to GeneCards/GeneDecks:
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet