Amelogenesis imperfecta, type ie

Preferred Label : Amelogenesis imperfecta, type ie;

Symbol : AI1E;

CISMeF acronym : AIH1; AI1E;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1; Amelogenesis imperfecta, X-linked 1; Enamel hypoplasia, X-linked 1; Amelogenesis imperfecta, hypomaturation type, with snow-capped teeth; AIH1;

Description : 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 of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1989).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the amelogenin gene (AMELX, 300391.0001);

Prefixed ID : #301200;

Details

Origin ID

301200;

UMLS CUI

C1845053;

Automatic exact mappings (from CISMeF team)
- X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [DO Concept]
- amelogenesis imperfecta type 1E [DO Concept]
Broader ORDO disease(s)
- Hypomaturation amelogenesis imperfecta [ORDO Disease]
CISMeF manual mappings
- Amelogenesis imperfecta - hypomaturation - snow capped teeth (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 1 [MeSH concept]
- amelogenesis imperfecta, hypomaturation type, with Snow-Capped teeth [MeSH Supplementary Concept]
- amelogenesis imperfecta, hypomaturation type, with Snow-Capped teeth [MeSH concept]
DO Cross reference
- amelogenesis imperfecta type 1E [DO Concept]
Genes related to phenotype
- Amelogenin [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Amelogenesis imperfecta [HPO term]
- Anterior open bite [HPO term]
- Anterior open-bite malocclusion [HPO term]
- Enamel hypoplasia [HPO term]
- Microdontia [HPO term]
- X-linked dominant inheritance [HPO term]
Not associated HPO term(s)
- Abnormal dentin morphology [HPO term]
ORDO concept(s)
- Amelogenesis imperfecta [ORDO Disease]
- Hypomaturation amelogenesis imperfecta [ORDO Disease]
See also inter- (CISMeF)
- Amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- amelogenesis imperfecta, hypomaturation type, with Snow-Capped teeth [MeSH concept]
- amelogenesis imperfecta, hypomaturation type, with Snow-Capped teeth [MeSH Supplementary Concept]

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