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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): 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.
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.
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.
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.
Yellow-brown discoloration of the teeth
MedGen UID:
350813
Concept ID:
C1863008
Finding

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