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Amelogenesis imperfecta type 1C(AI1C)

MedGen UID:
388763
Concept ID:
C2673923
Disease or Syndrome
Synonyms: AMELOGENESIS IMPERFECTA, LOCAL HYPOPLASTIC TYPE, AUTOSOMAL RECESSIVE; Amelogenesis imperfecta, type IC
 
Gene (location): ENAM (4q13.3)
 
Monarch Initiative: MONDO:0008770
OMIM®: 204650

Definition

Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth.

Researchers have described at least 14 forms of amelogenesis imperfecta. These types are distinguished by their specific dental abnormalities and by their pattern of inheritance. Additionally, amelogenesis imperfecta can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body. [from MedlinePlus Genetics]

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.
Taurodontism
MedGen UID:
75596
Concept ID:
C0266039
Disease or Syndrome
Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.
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

Professional guidelines

PubMed

Wang SK, Zhang H, Lin HC, Wang YL, Lin SC, Seymen F, Koruyucu M, Simmer JP, Hu JC
Int J Mol Sci 2024 Jun 1;25(11) doi: 10.3390/ijms25116132. PMID: 38892321Free PMC Article

Recent clinical studies

Etiology

Leban T, Trebušak Podkrajšek K, Kovač J, Fidler A, Pavlič A
Genes (Basel) 2022 Jul 18;13(7) doi: 10.3390/genes13071272. PMID: 35886055Free PMC Article

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