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Amelogenesis imperfecta, hypocalcification type(AI3; ADHCAI; AI3A)

MedGen UID:
140773
•Concept ID:
C0399376
•
Disease or Syndrome
Synonyms: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT; AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE; Amelogenesis Imperfecta, Type III; hypocalcified amelogenesis imperfecta
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): FAM83H (8q24.3)
Related genes: AMTN, RELT
 
Monarch Initiative: MONDO:0968955
OMIM®: 130900; 611927
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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Term Hierarchy

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

Professional guidelines

PubMed

Orthodontic findings and treatment need in patients with amelogenesis imperfecta: a descriptive analysis.
Möhlhenrich SC, Chhatwani S, Schmidt P, Kniha K, Postberg J, Schulte AG, Jackowski J, Zimmer S, Danesh G
Head Face Med 2024 Jun 14;20(1):36. doi: 10.1186/s13005-024-00436-y. PMID: 38877506Free PMC Article

Recent clinical studies

Etiology

Orthodontic findings and treatment need in patients with amelogenesis imperfecta: a descriptive analysis.
Möhlhenrich SC, Chhatwani S, Schmidt P, Kniha K, Postberg J, Schulte AG, Jackowski J, Zimmer S, Danesh G
Head Face Med 2024 Jun 14;20(1):36. doi: 10.1186/s13005-024-00436-y. PMID: 38877506Free PMC Article
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

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

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

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: 33034243Free 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

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