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Amelogenesis imperfecta type 3B(AI3B)

MedGen UID:
1621302
•Concept ID:
C4539891
•
Disease or Syndrome
Synonym: AMELOGENESIS IMPERFECTA, TYPE IIIB
 
Gene (location): AMTN (4q13.3)
 
Monarch Initiative: MONDO:0021547
OMIM®: 617607

Definition

Hypomineralized amelogenesis imperfecta type IIIB (AI3B) is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places (Smith et al., 2016). [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
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.
See: Feature record | Search on this feature

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
    • GTR(Research)
      Research tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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