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Amelogenesis imperfecta type 1

MedGen UID:: 97992
•Concept ID:: C0399367
•: Congenital Abnormality

Synonyms:	Amelogenesis imperfecta local hypoplastic form; Amelogenesis Imperfecta, Hypoplastic Type; Hypoplastic type amelogenesis imperfecta; Local, hypoplastic type of amelogenesis imperfecta; Microdontia, Generalized
SNOMED CT:	Amelogenesis imperfecta - hypoplastic (109476006); Amelogenesis imperfecta, hypoplastic type (109476006)
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. X-linked dominant inheritance MedGen UID: 376232 •Concept ID: C1847879 • Finding Source: Orphanet A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. See: This record Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet) X-linked dominant inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	ACP4, ENAM, LAMB3, ITGB6, AMBN

Monarch Initiative:	MONDO:0015047
Orphanet:	ORPHA100031

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAmelogenesis imperfecta

Phenotypic abnormality
- 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 - hypoplastic autosomal dominant - local
        Amelogenesis imperfecta type 1A
        Amelogenesis imperfecta type 1C
        Amelogenesis imperfecta type 1F
        Amelogenesis imperfecta type 1H
        Amelogenesis imperfecta, type 1J

Professional guidelines

PubMed

AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.

Wang SK, Zhang H, Lin HC, Wang YL, Lin SC, Seymen F, Koruyucu M, Simmer JP, Hu JC
Int J Mol Sci 2024 Jun 1;25(11) doi: 10.3390/ijms25116132. PMID: 38892321 Free PMC Article

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: 38877506 Free PMC Article

Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.

Nitayavardhana I, Theerapanon T, Srichomthong C, Piwluang S, Wichadakul D, Porntaveetus T, Shotelersuk V
Mol Genet Genomics 2020 Jul;295(4):923-931. Epub 2020 Apr 3 doi: 10.1007/s00438-020-01668-8. PMID: 32246227

See all (6)

Recent clinical studies

Etiology

Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease.

Gruper Y, Wolff ASB, Glanz L, Spoutil F, Marthinussen MC, Osickova A, Herzig Y, Goldfarb Y, Aranaz-Novaliches G, Dobeš J, Kadouri N, Ben-Nun O, Binyamin A, Lavi B, Givony T, Khalaila R, Gome T, Wald T, Mrazkova B, Sochen C, Besnard M, Ben-Dor S, Feldmesser E, Orlova EM, Hegedűs C, Lampé I, Papp T, Felszeghy S, Sedlacek R, Davidovich E, Tal N, Shouval DS, Shamir R, Guillonneau C, Szondy Z, Lundin KEA, Osicka R, Prochazka J, Husebye ES, Abramson J
Nature 2023 Dec;624(7992):653-662. Epub 2023 Nov 22 doi: 10.1038/s41586-023-06776-0. PMID: 37993717

Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.

Prasad MK, Laouina S, El Alloussi M, Dollfus H, Bloch-Zupan A
J Dent Res 2016 Dec;95(13):1457-1463. Epub 2016 Aug 24 doi: 10.1177/0022034516663200. PMID: 27558265

The relationship of amelogenesis imperfecta and nephrocalcinosis syndrome.

Kirzioglu Z, Ulu KG, Sezer MT, Yüksel S
Med Oral Patol Oral Cir Bucal 2009 Nov 1;14(11):e579-82. doi: 10.4317/medoral.14.e579. PMID: 19680205

Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.

Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896 Free PMC Article

Human genes for dental anomalies.

Kurisu K, Tabata MJ
Oral Dis 1997 Dec;3(4):223-8. doi: 10.1111/j.1601-0825.1997.tb00045.x. PMID: 9643216

See all (29)

Diagnosis

Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease.

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.

Zhang Z, Zou X, Feng L, Huang Y, Chen F, Sun K, Song Y, Lv P, Gao X, Dong Y, Tian H
BMC Oral Health 2023 Nov 20;23(1):893. doi: 10.1186/s12903-023-03508-8. PMID: 37985977 Free PMC Article

Management guidelines for amelogenesis imperfecta: a case report and review of the literature.

Roma M, Hegde P, Durga Nandhini M, Hegde S
J Med Case Rep 2021 Feb 9;15(1):67. doi: 10.1186/s13256-020-02586-4. PMID: 33557885 Free PMC Article

WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.

Zhang H, Koruyucu M, Seymen F, Kasimoglu Y, Kim JW, Tinawi S, Zhang C, Jacquemont ML, Vieira AR, Simmer JP, Hu JCC
J Dent Res 2019 May;98(5):541-548. Epub 2019 Feb 19 doi: 10.1177/0022034518824571. PMID: 30779877 Free PMC Article

Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.

Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896 Free PMC Article

See all (26)

Therapy

Enamel Renal Gingival Syndrome in an Adolescent.

Koul R, Chengappa D, Mathur VP, Singh TA, Chopra SS
J Dent Child (Chic) 2024 Jan 15;91(1):38-42. PMID: 38671566

Effect of etching on bonding of a self-etch adhesive to dentine affected by amelogenesis imperfecta.

Epasinghe DJ, Yiu CKY
J Investig Clin Dent 2018 Feb;9(1) Epub 2017 Jun 13 doi: 10.1111/jicd.12276. PMID: 28608463

Developmental defects of enamel in primary teeth - findings of a regional German birth cohort study.

Wagner Y
BMC Oral Health 2016 Jul 7;17(1):10. doi: 10.1186/s12903-016-0235-7. PMID: 27430531 Free PMC Article

Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.

Zobor D, Kaufmann DH, Weckerle P, Sauer A, Wissinger B, Wilhelm H, Kohl S
Ophthalmic Genet 2012 Mar;33(1):34-8. Epub 2011 Jul 5 doi: 10.3109/13816810.2011.592178. PMID: 21728811

The effects of acid-etching on enamel from different clinical variants of amelogenesis imperfecta: an SEM study.

Seow WK, Amaratunge A
Pediatr Dent 1998 Jan-Feb;20(1):37-42. PMID: 9524971

See all (5)

Prognosis

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.

Zhang Z, Zou X, Feng L, Huang Y, Chen F, Sun K, Song Y, Lv P, Gao X, Dong Y, Tian H
BMC Oral Health 2023 Nov 20;23(1):893. doi: 10.1186/s12903-023-03508-8. PMID: 37985977 Free PMC Article

Interdisciplinary Care for a Patient with Amelogenesis Imperfecta: A Clinical Report.

Millet C, Duprez JP, Khoury C, Morgon L, Richard B
J Prosthodont 2015 Jul;24(5):424-31. Epub 2014 Dec 17 doi: 10.1111/jopr.12242. PMID: 25522047

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

The relationship of amelogenesis imperfecta and nephrocalcinosis syndrome.

Kirzioglu Z, Ulu KG, Sezer MT, Yüksel S
Med Oral Patol Oral Cir Bucal 2009 Nov 1;14(11):e579-82. doi: 10.4317/medoral.14.e579. PMID: 19680205

Human genes for dental anomalies.

Kurisu K, Tabata MJ
Oral Dis 1997 Dec;3(4):223-8. doi: 10.1111/j.1601-0825.1997.tb00045.x. PMID: 9643216

See all (8)

Clinical prediction guides

The circadian clock in enamel development.

Wu K, Li X, Bai Y, Heng BC, Zhang X, Deng X
Int J Oral Sci 2024 Sep 6;16(1):56. doi: 10.1038/s41368-024-00317-9. PMID: 39242565 Free PMC Article

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.

Zhang Z, Zou X, Feng L, Huang Y, Chen F, Sun K, Song Y, Lv P, Gao X, Dong Y, Tian H
BMC Oral Health 2023 Nov 20;23(1):893. doi: 10.1186/s12903-023-03508-8. PMID: 37985977 Free PMC Article

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

WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.

The relationship of amelogenesis imperfecta and nephrocalcinosis syndrome.

Kirzioglu Z, Ulu KG, Sezer MT, Yüksel S
Med Oral Patol Oral Cir Bucal 2009 Nov 1;14(11):e579-82. doi: 10.4317/medoral.14.e579. PMID: 19680205

See all (16)

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Amelogenesis imperfecta type 1

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Clinical resources

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Reviews

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