Amelogenesis imperfecta type 2A1(AI2A1)

MedGen UID:: 436039
•Concept ID:: C2673922
•: Disease or Syndrome

Synonyms:	Amelogenesis imperfecta, hypomaturation type, IIA1; AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE, 1; Amelogenesis imperfecta, type IIA1

Gene (location): Gene(s) directly associated with this condition or phenotype.	KLK4 (19q13.41)

Monarch Initiative:	MONDO:0008772
OMIM®:	204700

Definition

Autosomal recessive amelogenesis imperfecta 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). Genetic Heterogeneity of the Hypomaturation Type of Amelogenesis Imperfecta See also AI2A2 (612529), caused by mutation in the MMP20 gene (604629); AI2A3 (613211), caused by mutation in the WDR72 gene (613214); and AI2A4 (614832), caused by mutation in the C4ORF26 gene (614829). [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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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.

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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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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.

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Yellow-brown discoloration of the teeth