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Amelogenesis imperfecta, hypocalcification type(AI3A)

MedGen UID:: 140773
•Concept ID:: C0399376
•: Disease or Syndrome

Synonyms:	AI3A; AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT; AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE; Amelogenesis Imperfecta, Type III; AMELOGENESIS IMPERFECTA, TYPE IIIA
SNOMED CT:	Amelogenesis imperfecta - hypomineralization (109471001); Amelogenesis imperfecta - hypocalcified (109471001); Amelogenesis imperfecta, hypocalcification type (109471001)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	FAM83H (8q24.3)

Monarch Initiative:	MONDO:0007538
OMIM®:	130900
Orphanet:	ORPHA100032

Definition

Hypocalcified amelogenesis imperfecta is characterized by enamel of normal thickness on newly erupted and unerupted and unresolved teeth. The enamel is soft and may be lost soon after eruption leaving the crown composed only of dentin. The enamel has a cheesy consistency and can be scraped from the dentin. An anterior open bite has been recorded in over 60% of the cases observed. The hypocalcification type is the most frequent type of enamel dysplasia, occurring in about 1 in 20,000 individuals (Witkop and Sauk, 1976). Large masses of supragingival calculus become deposited on the teeth, and this is frequently associated with severe gingivitis or periodontitis (Winter and Brook, 1975). [from OMIM]

Additional description

From MedlinePlus Genetics
Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth.

Researchers have described at least 14 forms of amelogenesis imperfecta. These types are distinguished by their specific dental abnormalities and by their pattern of inheritance. Additionally, amelogenesis imperfecta can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body. https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta

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 malocclusion

MedGen UID:: 9869
•Concept ID:: C0024636
•: Anatomical Abnormality

Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

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Abnormality of head or neck
- Anterior open-bite malocclusion
- Dental malocclusion
Abnormality of the musculoskeletal system
- Amelogenesis imperfecta

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAmelogenesis imperfecta, hypocalcification type

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of connective tissue
    - Abnormal odontoid tissue morphology
      - Abnormal dental enamel morphology
        Amelogenesis imperfecta
        Amelogenesis imperfecta, hypocalcification type

Follow this link to review classifications for Amelogenesis imperfecta, hypocalcification type in Orphanet.

Recent clinical studies

Etiology

Amelogenesis imperfecta: a clinician's challenge.

Chamarthi V, Varma BR, Jayanthi M
J Indian Soc Pedod Prev Dent 2012 Jan-Mar;30(1):70-3. doi: 10.4103/0970-4388.95587. PMID: 22565521

Clinical diagnosis and oral rehabilitation of a patient with amelogenesis imperfecta: a case report.

Sholapurkar AA, Joseph RM, Varghese JM, Neelagiri K, Acharya SR, Hegde V, Pai KM, Bhat M
J Contemp Dent Pract 2008 May 1;9(4):92-8. PMID: 18473032

See all (2)

Diagnosis

Amelogenesis imperfecta: a clinician's challenge.

Chamarthi V, Varma BR, Jayanthi M
J Indian Soc Pedod Prev Dent 2012 Jan-Mar;30(1):70-3. doi: 10.4103/0970-4388.95587. PMID: 22565521

Clinical diagnosis and oral rehabilitation of a patient with amelogenesis imperfecta: a case report.

Sholapurkar AA, Joseph RM, Varghese JM, Neelagiri K, Acharya SR, Hegde V, Pai KM, Bhat M
J Contemp Dent Pract 2008 May 1;9(4):92-8. PMID: 18473032

See all (2)

Prognosis

Amelogenesis imperfecta: a clinician's challenge.

Chamarthi V, Varma BR, Jayanthi M
J Indian Soc Pedod Prev Dent 2012 Jan-Mar;30(1):70-3. doi: 10.4103/0970-4388.95587. PMID: 22565521

Clinical diagnosis and oral rehabilitation of a patient with amelogenesis imperfecta: a case report.

Sholapurkar AA, Joseph RM, Varghese JM, Neelagiri K, Acharya SR, Hegde V, Pai KM, Bhat M
J Contemp Dent Pract 2008 May 1;9(4):92-8. PMID: 18473032

See all (2)

Clinical prediction guides

FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta.

Wang SK, Zhang H, Hu CY, Liu JF, Chadha S, Kim JW, Simmer JP, Hu JCC
J Dent Res 2021 Mar;100(3):293-301. Epub 2020 Oct 9 doi: 10.1177/0022034520962731. PMID: 33034243 Free PMC Article

The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a Chinese family.

Zheng Y, Lu T, Chen J, Li M, Xiong J, He F, Gan Z, Guo Y, Zhang L, Xiong F
Clin Oral Investig 2021 May;25(5):2915-2923. Epub 2020 Oct 2 doi: 10.1007/s00784-020-03609-6. PMID: 33009625

See all (2)

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Amelogenesis imperfecta, hypocalcification type(AI3A)

Definition

Additional description

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

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