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Amelogenesis imperfecta type 1A(AI1A)

MedGen UID:
859840
Concept ID:
C4011403
Disease or Syndrome
Synonyms: Amelogenesis imperfecta local hypoplastic; Amelogenesis imperfecta, hypoplastic type; AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA; Amelogenesis imperfecta, type IA
 
Gene (location): LAMB3 (1q32.2)
 
Monarch Initiative: MONDO:0007094
OMIM®: 104530

Definition

Hypoplastic amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness. The enamel may have pits on the labial or buccal surfaces that are often arranged in rows and columns (see 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.
Dental enamel pits
MedGen UID:
395958
Concept ID:
C1860711
Finding
The presence of small depressions in the dental enamel.
Enamel hypoplasia
MedGen UID:
3730
Concept ID:
C0011351
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
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.
Generalized microdontia
MedGen UID:
870614
Concept ID:
C4025065
Finding
A generalized form of microdontia.
Abnormality of the skin
MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
An abnormality of the skin.

Recent clinical studies

Diagnosis

Liu AQ, Zhang LS, Guo H, Wu ML, Li TY, Xuan K, Wei KW
Medicine (Baltimore) 2020 Oct 9;99(41):e22508. doi: 10.1097/MD.0000000000022508. PMID: 33031289Free PMC Article

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