KEGG   DISEASE: Amelogenesis imperfectaHelp
Entry
H00615                      Disease                                

Name
Amelogenesis imperfecta
Description
Amelogenesis imperfecta 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
Mouth and dental disease
Brite
Human diseases [BR:br08402]
 Digestive system diseases
  Mouth and dental diseases
   H00615  Amelogenesis imperfecta
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
BRITE hierarchy
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) ACPT [HSA:93650] [KO:K19284]
(AI2A1) KLK4 [HSA:9622] [KO:K08666]
(AI2A2) MMP20 [HSA:9313] [KO:K07999]
(AI2A3) WDR72 [HSA:256764]
(AI2A4) C4orf26 [HSA:152816]
(AI2A5) SLC24A4 [HSA:123041] [KO:K13752]
(AI2A6) GPR68 [HSA:8111] [KO:K08408]
(AI3) FAM83H [HSA:286077]
Comment
See also H00618 Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism.
Other DBs
ICD-11: LA30.6
ICD-10: K00.5
MeSH: D000567
OMIM: 104530 104500 204650 301200 616270 204690 616221 617297 204700 612529 613211 614832 615887 617217 130900
Reference
  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
  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: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
  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
  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
  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
  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
  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
  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
  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
  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
  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
  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
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