Amelogenesis imperfecta type 1H(AI1H)

MedGen UID:: 863994
•Concept ID:: C4015557
•: Disease or Syndrome

Synonym:	Amelogenesis imperfecta, type IH

Gene (location): Gene(s) directly associated with this condition or phenotype.	ITGB6 (2q24.2)

Monarch Initiative:	MONDO:0014540
OMIM®:	616221

Definition

Amelogenesis imperfecta type IH is characterized by hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored (Wang et al., 2014 and Poulter et al., 2014). [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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Dental enamel pits

MedGen UID:: 395958
•Concept ID:: C1860711
•: Finding

The presence of small depressions in the dental enamel.

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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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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