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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.
See: Feature record | Search on this feature
Dental enamel pits
MedGen UID:
395958
•Concept ID:
C1860711
•
Finding
The presence of small depressions in the dental enamel.
See: Feature record | Search on this feature
Enamel hypoplasia
MedGen UID:
3730
•Concept ID:
C0011351
•
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Generalized microdontia
MedGen UID:
870614
•Concept ID:
C4025065
•
Finding
A generalized form of microdontia.
See: Feature record | Search on this feature
Abnormality of the skin
MedGen UID:
11449
•Concept ID:
C0037268
•
Congenital Abnormality
An abnormality of the skin.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.
Wang X, Zhao Y, Yang Y, Qin M
PLoS One 2015;10(3):e0116514. Epub 2015 Mar 13 doi: 10.1371/journal.pone.0116514. PMID: 25769099Free PMC Article

Diagnosis

Long-term dental intervention and laboratory examination in a patient with Vitamin D-dependent rickets type I: A case report.
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
Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.
Wang X, Zhao Y, Yang Y, Qin M
PLoS One 2015;10(3):e0116514. Epub 2015 Mar 13 doi: 10.1371/journal.pone.0116514. PMID: 25769099Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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