Trait
Amelogenesis imperfecta
A developmental dysplasia of the dental enamel.
Summary
Reference genomeGRCh38hg38
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Get my Genome Test34 genes linked to Amelogenesis imperfecta
Changes in these genes cause rare conditions in which Amelogenesis imperfecta is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AMBNameloblastin | Always | In 1 condition |
| AMTNamelotin | Always | In 1 condition |
| ENAMenamelin | Always | In 2 conditions |
| FAM20AFAM20A golgi associated secretory pathway pseudokinase | Always | In 2 conditions |
| KLK4kallikrein related peptidase 4 | Always | In 1 condition |
| LAMB3laminin subunit beta 3 | Always | In 1 condition |
| MMP20matrix metallopeptidase 20 | Always | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Always | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Always | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| SLC10A7solute carrier family 10 member 7 | Always | In 1 condition |
| SLC24A4solute carrier family 24 member 4 | Always | In 1 condition |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Always | In 1 condition |
| SP6Sp6 transcription factor | Always | In 1 condition |
| STIM1stromal interaction molecule 1 | Always | In 1 condition |
| CLDN16claudin 16 | Very often (80–99%) | In 1 condition |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Very often (80–99%) | In 1 condition |
| ROGDIrogdi atypical leucine zipper | Very often (80–99%) | In 2 conditions |
| SLC13A5solute carrier family 13 member 5 | Very often (80–99%) | In 2 conditions |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Often (30–79%) | In 1 condition |
| SATB1SATB homeobox 1 | Sometimes (5–29%) | In 1 condition |
| TMEM165transmembrane protein 165 | Sometimes (5–29%) | In 1 condition |
| CLDN19claudin 19 | Rarely (1–4%) | In 1 condition |
| AMELXamelogenin X-linked | Not recorded | In 1 condition |
| DLX3distal-less homeobox 3 | Not recorded | In 1 condition |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Not recorded | In 1 condition |
| GPR68G protein-coupled receptor 68 | Not recorded | In 1 condition |
| ITGB6integrin subunit beta 6 | Not recorded | In 1 condition |
| LAMA3laminin subunit alpha 3 | Not recorded | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Not recorded | In 1 condition |
| ODAPHodontogenesis associated phosphoprotein | Not recorded | In 1 condition |
| RELTRELT TNF receptor | Not recorded | In 1 condition |
| SACK1Hscaffolding CK1 anchoring protein H | Not recorded | In 1 condition |
| WDR72WD repeat domain 72 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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