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Amelogenesis imperfecta type 2

MedGen UID:
97994
Concept ID:
C0399372
Congenital Abnormality
Synonym: Amelogenesis imperfecta hypomaturation type
SNOMED CT: Amelogenesis imperfecta - hypomaturation (109475005); Amelogenesis imperfecta, hypomaturation type (109475005)
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).
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.
 
Related genes: WDR72, ODAPH, SLC24A4, KLK4, MMP20, GPR68
 
Monarch Initiative: MONDO:0015048
Orphanet: ORPHA100033

Term Hierarchy

Professional guidelines

PubMed

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
Gjørup H, Haubek D, Hintze H, Haukali G, Løvschall H, Hertz JM, Poulsen S
Acta Odontol Scand 2009;67(4):240-7. doi: 10.1080/00016350902973685. PMID: 19452331
Hart PS, Aldred MJ, Crawford PJ, Wright NJ, Hart TC, Wright JT
Arch Oral Biol 2002 Apr;47(4):261-5. doi: 10.1016/s0003-9969(02)00003-1. PMID: 11922869

Recent clinical studies

Etiology

Wang YL, Lin HC, Liang T, Lin JC, Simmer JP, Hu JC, Wang SK
J Dent Res 2024 Jun;103(6):662-671. Epub 2024 May 8 doi: 10.1177/00220345241236695. PMID: 38716742Free PMC Article
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
Bilge NH, Yeşiltepe S, Törenek Ağırman K, Çağlayan F, Bilge OM
Folia Morphol (Warsz) 2018;77(2):323-328. Epub 2017 Sep 21 doi: 10.5603/FM.a2017.0087. PMID: 28933802
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
Kurisu K, Tabata MJ
Oral Dis 1997 Dec;3(4):223-8. doi: 10.1111/j.1601-0825.1997.tb00045.x. PMID: 9643216

Diagnosis

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
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: 37985977Free PMC Article
Kim YJ, Lee Y, Kasimoglu Y, Seymen F, Simmer JP, Hu JC, Cho ES, Kim JW
J Dent Res 2022 Jan;101(1):37-45. Epub 2021 May 26 doi: 10.1177/00220345211015119. PMID: 34036831Free PMC Article
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: 33557885Free PMC Article
Bilge NH, Yeşiltepe S, Törenek Ağırman K, Çağlayan F, Bilge OM
Folia Morphol (Warsz) 2018;77(2):323-328. Epub 2017 Sep 21 doi: 10.5603/FM.a2017.0087. PMID: 28933802

Therapy

Koul R, Chengappa D, Mathur VP, Singh TA, Chopra SS
J Dent Child (Chic) 2024 Jan 15;91(1):38-42. PMID: 38671566
Epasinghe DJ, Yiu CKY
J Investig Clin Dent 2018 Feb;9(1) Epub 2017 Jun 13 doi: 10.1111/jicd.12276. PMID: 28608463
Wagner Y
BMC Oral Health 2016 Jul 7;17(1):10. doi: 10.1186/s12903-016-0235-7. PMID: 27430531Free PMC Article
Markovic D, Petrovic B, Peric T
Eur Arch Paediatr Dent 2010 Aug;11(4):201-8. doi: 10.1007/BF03262745. PMID: 20840832
Seow WK, Amaratunge A
Pediatr Dent 1998 Jan-Feb;20(1):37-42. PMID: 9524971

Prognosis

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: 37985977Free PMC Article
Xie Y, Meng M, Cao L, Yang J, Ma Q, Huang X, Yu Y, Yang Q, Zou J, Du Q
Clin Oral Investig 2023 Mar;27(3):1289-1299. Epub 2022 Nov 1 doi: 10.1007/s00784-022-04763-9. PMID: 36318336
Smith CEL, Whitehouse LLE, Poulter JA, Wilkinson Hewitt L, Nadat F, Jackson BR, Manfield IW, Edwards TA, Rodd HD, Inglehearn CF, Mighell AJ
Hum Mol Genet 2020 Jun 3;29(9):1417-1425. doi: 10.1093/hmg/ddaa041. PMID: 32167558Free PMC Article
Markovic D, Petrovic B, Peric T
Eur Arch Paediatr Dent 2010 Aug;11(4):201-8. doi: 10.1007/BF03262745. PMID: 20840832
Kurisu K, Tabata MJ
Oral Dis 1997 Dec;3(4):223-8. doi: 10.1111/j.1601-0825.1997.tb00045.x. PMID: 9643216

Clinical prediction guides

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: 37985977Free PMC Article
Xie Y, Meng M, Cao L, Yang J, Ma Q, Huang X, Yu Y, Yang Q, Zou J, Du Q
Clin Oral Investig 2023 Mar;27(3):1289-1299. Epub 2022 Nov 1 doi: 10.1007/s00784-022-04763-9. PMID: 36318336
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: 30779877Free PMC Article
Hu JC, Simmer JP
Orthod Craniofac Res 2007 May;10(2):45-52. doi: 10.1111/j.1601-6343.2007.00384.x. PMID: 17552940
Kurisu K, Tabata MJ
Oral Dis 1997 Dec;3(4):223-8. doi: 10.1111/j.1601-0825.1997.tb00045.x. PMID: 9643216

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