Several gene expression is needed for enamel formation where the relevant matrix proteins & proteinases are transcribed for regular crystal growth & enamel mineralization. Mutations in the AMELX, ENAM, MMP20, KLK-4, FAM83H, WDR72, C4orf26, SLC24A4 LAMB3 and ITGB6 genes have been found to cause<unk>  (non-syndromic form). AMELX and ENAM encode extracellular matrix proteins of the developing tooth enamel and KLK-4 and MMP20 encode proteases that help degrade organic matter from the enamel matrix during the maturation stage of<unk> . SLC24A4 encodes a calcium transporter that mediates calcium transport to developing enamel during tooth development. Less is known about the function of other genes implicated in<unk> . Researchers expect that mutations in further genes are likely to be identified as causes of<unk> . Types include: Type OMIM Gene Locus<unk> 1B ENAM 4q21<unk> 1C ENAM 4q21<unk> 2A1 KLK4 19q13.4<unk> 2A2 MMP20 11q22.3-q23<unk> 2A3 WDR72 15q21.3<unk> 2A4 ODAPH 4q21.1<unk> 2A5 SLC24A4 14q32.12<unk> 3 FAM83H 8q24.3<unk> H1 AMELX Xp22.3-p22.1<unk> GFS FAM20A 17q24.2<unk>  can have different inheritance patterns depending on the gene that is altered. Mutations in the ENAM gene are the most frequent known cause and are most commonly inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.<unk>  is also inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM, MMP20, KLK4, FAM20A, C4orf26 or SLC24A4 genes. Autosomal recessive inheritance means two copies of the gene in each cell are altered. About 5% of<unk>  cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with an X-linked form of this condition experience more severe dental abnormalities than affected females. Recent genetic studies suggest that the cause of a significant proportion of<unk>  cases remains to be discovered.
Amelogenesis imperfecta
Danon disease
Panayiotopoulos syndrome
Pedophilia
Progeria
Kufs disease
Xeroderma
Hawkinsinuria