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Amelogenesis imperfecta hypomaturation type 2A3(AI2A3)

MedGen UID:: 416381
•Concept ID:: C2750771
•: Disease or Syndrome

Synonyms:	Amelogenesis imperfecta, hypomaturation type, IIA3; Amelogenesis imperfecta, type IIA3

Gene (location): Gene(s) directly associated with this condition or phenotype.	WDR72 (15q21.3)

Monarch Initiative:	MONDO:0013181
OMIM®:	613211

Definition

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene. [from MONDO]

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

Hypomature dental enamel

MedGen UID:: 869122
•Concept ID:: C4023540
•: Finding

A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.

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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

Abnormality of the musculoskeletal system

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 2
        Amelogenesis imperfecta hypomaturation type 2A3

Supplemental Content

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