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Amelogenesis imperfecta, type 3C(AI3C)

MedGen UID:: 1676410
•Concept ID:: C5193069
•: Disease or Syndrome

Synonym:	AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL RECESSIVE

Gene (location): Gene(s) directly associated with this condition or phenotype.	RELT (11q13.4)

Monarch Initiative:	MONDO:0032717
OMIM®:	618386

Definition

Amelogenesis imperfecta type IIIC is characterized by hypocalcified enamel in both the primary and secondary dentition. The enamel is rough and yellow-brown; under normal use, the enamel disintegrates from occlusal surfaces of the molars, leaving a ring of intact enamel remaining on the sides. Some affected individuals have anterior open bite (Kim et al., 2019). [from OMIM]

Clinical features

From HPO

Amelogenesis imperfecta

MedGen UID:: 240
•Concept ID:: C0002452
•: Congenital Abnormality

A developmental dysplasia of the dental enamel.

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Hypocalcification of dental enamel

MedGen UID:: 869123
•Concept ID:: C4023541
•: Disease or Syndrome

A form of hypomineralization of enamel characterized by reduced calcification.

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Anterior open-bite malocclusion

MedGen UID:: 120566
•Concept ID:: C0266060
•: Finding

Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.

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Yellow-brown discoloration of the teeth

MedGen UID:: 350813
•Concept ID:: C1863008
•: Finding

See: Feature record | Search on this feature

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Abnormality of head or neck
- Anterior open-bite malocclusion
- Yellow-brown discoloration of the teeth
Abnormality of the musculoskeletal system
- Amelogenesis imperfecta
- Hypocalcification of dental enamel

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, hypocalcification type
        Amelogenesis imperfecta, type 3C

Recent clinical studies

Diagnosis

Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.

Kantaputra P, Guven Y, Aksu B, Kalayci T, Doğan C, Intachai W, Olsen B, Tongsima S, Ngamphiw C, Noppakun K
J Am Dent Assoc 2022 Jul;153(7):668-676. Epub 2022 Mar 5 doi: 10.1016/j.adaj.2021.12.009. PMID: 35260236

See all (1)

Clinical prediction guides

Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.

See all (1)

MedGen

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Links from Gene

Amelogenesis imperfecta, type 3C(AI3C)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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