KEGG DISEASE: Amelogenesis imperfecta

DISEASE: Amelogenesis imperfecta

Entry

H00615                      Disease

Name

Amelogenesis imperfecta

Subgroup

Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism [DS:H00618]

Description

Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead to enamel hypoplasia and/or hypomineralization. Mutations in several tooth-specific genes are associated with the disease.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the face, mouth or teeth
    LA30  Structural developmental anomalies of teeth and periodontal tissues
     H00615  Amelogenesis imperfecta

Pathway

hsa04151

PI3K-Akt signaling pathway

hsa04510

Focal adhesion

hsa04512

ECM-receptor interaction

Gene

(AI1A) LAMB3 [HSA:3914] [KO:K06244]
(AI1B/C) ENAM [HSA:10117] [KO:K23444]
(AI1E) AMELX [HSA:265] [KO:K23443]
(AI1F) AMBN [HSA:258] [KO:K23442]
(AI1G) FAM20A [HSA:54757] [KO:K21957]
(AI1H) ITGB6 [HSA:3694] [KO:K06589]
(AI1J) ACP4 [HSA:93650] [KO:K19284]
(AI1K) SP6 [HSA:80320] [KO:K09196]
(AI2A1) KLK4 [HSA:9622] [KO:K08666]
(AI2A2) MMP20 [HSA:9313] [KO:K07999]
(AI2A3) WDR72 [HSA:256764] [KO:K24753]
(AI2A4) ODAPH [HSA:152816] [KO:K24398]
(AI2A5) SLC24A4 [HSA:123041] [KO:K13752]
(AI2A6) GPR68 [HSA:8111] [KO:K08408]
(AI3A) FAM83H [HSA:286077] [KO:K23931]
(AI3B) AMTN [HSA:401138] [KO:K25225]
(AI3C) RELT [HSA:84957] [KO:K05156]

Comment

AI is classified as 4 patterns: hypoplastic, hypomaturation, hypocalcified, and hypomaturation-hypoplastic.

Other DBs

ICD-11:

LA30.6

ICD-10:

K00.5

MeSH:

D000567

OMIM:

104530 104500 204650 301200 616270 204690 616221 617297 620104 204700 612529 613211 614832 615887 617217 130900 617607 618386

Reference

PMID:3150442

Authors

Witkop CJ Jr

Title

Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification.

Journal

J Oral Pathol 17:547-53 (1988)
DOI:10.1111/j.1600-0714.1988.tb01332.x

Reference

PMID:16304440

Authors

Stephanopoulos G, Garefalaki ME, Lyroudia K

Title

Genes and related proteins involved in amelogenesis imperfecta.

Journal

J Dent Res 84:1117-26 (2005)
DOI:10.1177/154405910508401206

Reference

PMID:17408482

Authors

Crawford PJ, Aldred M, Bloch-Zupan A

Title

Amelogenesis imperfecta.

Journal

Orphanet J Rare Dis 2:17 (2007)
DOI:10.1186/1750-1172-2-17

Reference

PMID:20640366

Authors

Canger EM, Celenk P, Yenisey M, Odyakmaz SZ

Title

Amelogenesis imperfecta, hypoplastic type associated with some dental abnormalities: a case report.

Journal

Braz Dent J 21:170-4 (2010)
DOI:10.1590/s0103-64402010000200014

Reference

PMID:23958762 (AI1A)

Authors

Kim JW, Seymen F, Lee KE, Ko J, Yildirim M, Tuna EB, Gencay K, Shin TJ, Kyun HK, Simmer JP, Hu JC

Title

LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.

Journal

J Dent Res 92:899-904 (2013)
DOI:10.1177/0022034513502054

Reference

PMID:11487571 (AI1B)

Authors

Rajpar MH, Harley K, Laing C, Davies RM, Dixon MJ

Title

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta.

Journal

Hum Mol Genet 10:1673-7 (2001)
DOI:10.1093/hmg/10.16.1673

Reference

PMID:14684688 (AI1C)

Authors

Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E

Title

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.

Journal

J Med Genet 40:900-6 (2003)
DOI:10.1136/jmg.40.12.900

Reference

PMID:1916828 (AI1E)

Authors

Lagerstrom M, Dahl N, Nakahori Y, Nakagome Y, Backman B, Landegren U, Pettersson U

Title

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1).

Journal

Genomics 10:971-5 (1991)
DOI:10.1016/0888-7543(91)90187-j

Reference

PMID:24858907 (AI1F)

Authors

Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ

Title

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.

Journal

Hum Mol Genet 23:5317-24 (2014)
DOI:10.1093/hmg/ddu247

Reference

PMID:21990045 (AI1G)

Authors

Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, Jung SE, Song SJ, Yildirim M, Bayram M, Tuna EB, Gencay K, Kim JW

Title

Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.

Journal

Hum Mutat 33:91-4 (2012)
DOI:10.1002/humu.21621

Reference

PMID:24319098 (AI1H)

Authors

Poulter JA, Brookes SJ, Shore RC, Smith CE, Abi Farraj L, Kirkham J, Inglehearn CF, Mighell AJ

Title

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.

Journal

Hum Mol Genet 23:2189-97 (2014)
DOI:10.1093/hmg/ddt616

Reference

PMID:27843125 (AI1J)

Authors

Seymen F, Kim YJ, Lee YJ, Kang J, Kim TH, Choi H, Koruyucu M, Kasimoglu Y, Tuna EB, Gencay K, Shin TJ, Hyun HK, Kim YJ, Lee SH, Lee ZH, Zhang H, Hu JC, Simmer JP, Cho ES, Kim JW

Title

Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.

Journal

Am J Hum Genet 99:1199-1205 (2016)
DOI:10.1016/j.ajhg.2016.09.018

Reference

PMID:32167558 (AI1K)

Authors

Smith CEL, Whitehouse LLE, Poulter JA, Wilkinson Hewitt L, Nadat F, Jackson BR, Manfield IW, Edwards TA, Rodd HD, Inglehearn CF, Mighell AJ

Title

A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.

Journal

Hum Mol Genet 29:1417-1425 (2020)
DOI:10.1093/hmg/ddaa041

Reference

PMID:15235027 (AI2A1)

Authors

Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, Wright JT

Title

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta.

Journal

J Med Genet 41:545-9 (2004)
DOI:10.1136/jmg.2003.017657

Reference

PMID:15744043 (AI2A2)

Authors

Kim JW, Simmer JP, Hart TC, Hart PS, Ramaswami MD, Bartlett JD, Hu JC

Title

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta.

Journal

J Med Genet 42:271-5 (2005)
DOI:10.1136/jmg.2004.024505

Reference

PMID:19853237 (AI2A3)

Authors

El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ

Title

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

Journal

Am J Hum Genet 85:699-705 (2009)
DOI:10.1016/j.ajhg.2009.09.014

Reference

PMID:22901946 (AI2A4)

Authors

Parry DA, Brookes SJ, Logan CV, Poulter JA, El-Sayed W, Al-Bahlani S, Al Harasi S, Sayed J, Raif el M, Shore RC, Dashash M, Barron M, Morgan JE, Carr IM, Taylor GR, Johnson CA, Aldred MJ, Dixon MJ, Wright JT, Kirkham J, Inglehearn CF, Mighell AJ

Title

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.

Journal

Am J Hum Genet 91:565-71 (2012)
DOI:10.1016/j.ajhg.2012.07.020

Reference

PMID:23375655 (AI2A5)

Authors

Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, Anwari BM, Rashid Y, Zhao H, Johnson CA, Inglehearn CF, Mighell AJ

Title

Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.

Journal

Am J Hum Genet 92:307-12 (2013)
DOI:10.1016/j.ajhg.2013.01.003

Reference

PMID:27693231 (AI2A6)

Authors

Parry DA, Smith CE, El-Sayed W, Poulter JA, Shore RC, Logan CV, Mogi C, Sato K, Okajima F, Harada A, Zhang H, Koruyucu M, Seymen F, Hu JC, Simmer JP, Ahmed M, Jafri H, Johnson CA, Inglehearn CF, Mighell AJ

Title

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.

Journal

Am J Hum Genet 99:984-990 (2016)
DOI:10.1016/j.ajhg.2016.08.020

Reference

PMID:18252228 (AI3A)

Authors

Kim JW, Lee SK, Lee ZH, Park JC, Lee KE, Lee MH, Park JT, Seo BM, Hu JC, Simmer JP

Title

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.

Journal

Am J Hum Genet 82:489-94 (2008)
DOI:10.1016/j.ajhg.2007.09.020

Reference

PMID:27412008 (AI3B)

Authors

Smith CE, Murillo G, Brookes SJ, Poulter JA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ

Title

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.

Journal

Hum Mol Genet 25:3578-3587 (2016)
DOI:10.1093/hmg/ddw203

Reference

PMID:30506946 (AI3C)

Authors

Kim JW, Zhang H, Seymen F, Koruyucu M, Hu Y, Kang J, Kim YJ, Ikeda A, Kasimoglu Y, Bayram M, Zhang C, Kawasaki K, Bartlett JD, Saunders TL, Simmer JP, Hu JC

Title

Mutations in RELT cause autosomal recessive amelogenesis imperfecta.

Journal

Clin Genet 95:375-383 (2019)
DOI:10.1111/cge.13487

LinkDB

» Japanese version

DBGET integrated database retrieval system