Links from Gene

Amelogenesis imperfecta, type 1J(AI1J)

MedGen UID:: 934597
•Concept ID:: C4310630
•: Congenital Abnormality

Synonyms:	AI1J; Amelogenesis imperfecta, type IJ

Gene (location): Gene(s) directly associated with this condition or phenotype.	ACP4 (19q13.33)

Monarch Initiative:	MONDO:0015008
OMIM®:	617297

Definition

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, 1988). [from OMIM]

Clinical features

From HPO

Amelogenesis imperfecta

MedGen UID:: 240
•Concept ID:: C0002452
•: Congenital Abnormality

A developmental dysplasia of the dental enamel.

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Carious teeth

MedGen UID:: 8288
•Concept ID:: C0011334
•: Disease or Syndrome

Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.

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Enamel hypoplasia

MedGen UID:: 3730
•Concept ID:: C0011351
•: Disease or Syndrome

Developmental hypoplasia of the dental enamel.

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Increased overbite

MedGen UID:: 539656
•Concept ID:: C0266063
•: Disease or Syndrome

Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.

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Widely spaced teeth