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Amelogenesis imperfecta type 1F(AI1F)

MedGen UID:: 898597
•Concept ID:: C4225394
•: Disease or Syndrome

Synonyms:	AI1F; AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IF; Amelogenesis imperfecta, type IF

Gene (location): Gene(s) directly associated with this condition or phenotype.	AMBN (4q13.3)

Monarch Initiative:	MONDO:0014560
OMIM®:	616270

Definition

Amelogenesis imperfecta type IF (AI1F) is characterized by hypoplastic enamel of the primary and secondary dentition. The teeth may appear rough and discolored, and the tooth enamel may be absent, pitted, or of varying thickness (Poulter et al. (2014)). [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.

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Abnormality of dental color

MedGen UID:: 869132
•Concept ID:: C4023551
•: Finding

A developmental defect of tooth color.

See: Feature record | Search on this feature

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Abnormality of head or neck
- Abnormality of dental color
- Enamel hypoplasia
Abnormality of the musculoskeletal system
- Amelogenesis imperfecta
- Dental enamel pits

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAmelogenesis imperfecta

Abnormality of the musculoskeletal system
- Abnormality of connective tissue
  - Abnormal odontoid tissue morphology
    - Abnormal dental enamel morphology
      - Amelogenesis imperfecta
        Amelogenesis imperfecta type 1
        Amelogenesis imperfecta type 1F

Supplemental Content

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Related information

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OMIM
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