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Amelogenesis imperfecta, IIa 1K(AI1K)

MedGen UID:
1824019
•Concept ID:
C5774246
•
Disease or Syndrome
Synonyms: AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IK; AMELOGENESIS IMPERFECTA, TYPE 1K; AMELOGENESIS IMPERFECTA, TYPE IK
 
Gene (location): SP6 (17q21.32)
 
Monarch Initiative: MONDO:0031084
OMIM®: 620104

Definition

Amelogenesis imperfecta type 1K (AI1K) is characterized by hypoplastic enamel of all teeth. In some individuals, the pulp chambers may be enlarged and some molars may exhibit taurodontism (summary by Kim et al., 2021). [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 hypoplasia
MedGen UID:
3730
•Concept ID:
C0011351
•
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
See: Feature record | Search on this feature
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Supplemental Content

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    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

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