Amelogenesis imperfecta hypomaturation type 2A5(AI2A5)

MedGen UID:: 863015
•Concept ID:: C4014578
•: Disease or Syndrome

Synonym:	Amelogenesis imperfecta, hypomaturation type IIA5

Gene (location): Gene(s) directly associated with this condition or phenotype.	SLC24A4 (14q32.12)

Monarch Initiative:	MONDO:0014385
OMIM®:	615887

Definition

Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989). [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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Yellow-brown discoloration of the teeth