Amelogenesis imperfecta, hypomaturation type, IIa6(AI2A6)

MedGen UID:: 934632
•Concept ID:: C4310665
•: Disease or Syndrome

Synonyms:	AI2A6; AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6

Gene (location): Gene(s) directly associated with this condition or phenotype.	GPR68 (14q32.11)

Monarch Initiative:	MONDO:0014971
OMIM®:	617217

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.

See: Feature record | Search on this feature

Enamel hypomineralization

MedGen UID:: 1802594
•Concept ID:: C5690820
•: Disease or Syndrome

A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.

See: Feature record | Search on this feature

Anterior open-bite malocclusion

MedGen UID:: 120566
•Concept ID:: C0266060
•: Finding

Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.

See: Feature record | Search on this feature

Show all Hide all