AMELOGENESIS IMPERFECTA, TYPE IE
General Information (adopted from Orphanet):
Synonyms, Signs: |
AMELOGENESIS IMPERFECTA, X-LINKED 1 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 ENAMEL HYPOPLASIA, X-LINKED AI1E AIH1 |
Number of Symptoms | 18 |
OrphanetNr: | |
OMIM Id: |
301200
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
X-linked dominant inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000705) | Amelogenesis imperfecta | 25 / 7739 | ||||
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(HPO:0006297) | Hypoplasia of dental enamel | 64 / 7739 | ||||
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(HPO:0200095) | Anterior open bite | 8 / 7739 | ||||
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(HPO:0000691) | Microdontia | 104 / 7739 | ||||
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(HPO:0011073) | Abnormality of dental color | 24 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(OMIM) | Soft enamel | 1 / 7739 | ||||
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(HPO:0003812) | Phenotypic variability | 129 / 7739 | ||||
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(OMIM) | Hard enamel | 1 / 7739 | ||||
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(OMIM) | Thin enamel | 2 / 7739 | ||||
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(HPO:0001423) | X-linked dominant inheritance | 69 / 7739 | ||||
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(OMIM) | Normal dentin | 1 / 7739 | ||||
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(OMIM) | Rough tooth surface | 1 / 7739 | ||||
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(OMIM) | Vertical ridges on enamel | 1 / 7739 | ||||
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(OMIM) | 'Snow-capped' appearance of teeth | 1 / 7739 | ||||
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(OMIM) | Wide spacing between teeth | 1 / 7739 | ||||
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(OMIM) | Hypomineralized enamel | 1 / 7739 | ||||
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(OMIM) | Enamel pitting | 6 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness ... |
Clinical Description OMIM |
Witkop (1957) was the first to describe a hypomaturation form of AI. In this form, both dentitions are affected. In males, primary teeth are opaque ground-glass white, and secondary teeth are mottled yellow-brown and white. Enamel is of ... |
Molecular genetics OMIM |
By Southern blot analysis, Lagerstrom et al. (1991) demonstrated a deletion extending over 5 kb of the amelogenin gene (300391.0001) in males with the hypomineralization form of amelogenesis imperfecta. Carrier females were heterozygous for the molecular defect which ... |