# Amelogênese imperfeita

> Página oficial: https://raras.org/doenca/amelogenese-imperfeita
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 88661 — https://www.orpha.net/en/disease/detail/88661
- **CID-10**: K00.5
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A amelogênese imperfeita (AI) representa um grupo de condições de desenvolvimento que afetam a estrutura e a aparência clínica do esmalte de todos ou quase todos os dentes de maneira mais ou menos igual, e que podem estar associadas a alterações morfológicas ou bioquímicas em outras partes do corpo.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, X-linked dominant

## Sinais e sintomas (52 fenótipos HPO)

- **Periodontite** — HPO: HP:0000704
- **Anormalidade do desenvolvimento do pescoço** — HPO: HP:4000104
- **Múltiplos dentes não irrompidos** — HPO: HP:0006283 (Ocasional (29-5%))
- **Má oclusão de mordida aberta anterior** — HPO: HP:0009102 (Frequente (79-30%))
- **Hipoplasia do esmalte** — HPO: HP:0006297 (Frequente (79-30%))
- **Morfologia anormal da mandíbula** — HPO: HP:0030791 (Ocasional (29-5%))
- **Dentes frágeis** — HPO: HP:0025124 (Frequente (79-30%))
- **Descoloração amarelo-acastanhada dos dentes** — HPO: HP:0006286 (Muito frequente (99-80%))
- **Esmalte dentário hipomaduro** — HPO: HP:0011085 (Frequente (79-30%))
- **Hipoplasia dos dentes** — HPO: HP:0000685 (Ocasional (29-5%))
- **Taurodontia** — HPO: HP:0000679 (Ocasional (29-5%))
- **Dentes amplamente espaçados** — HPO: HP:0000687 (Ocasional (29-5%))
- **Anormalidade da dentina** — HPO: HP:0010299 (Ocasional (29-5%))
- **Anormalidade da cor dentária** — HPO: HP:0011073 (Muito frequente (99-80%))
- **Mastigação prejudicada** — HPO: HP:0005216 (Frequente (79-30%))
- **Hipomineralização do esmalte** — HPO: HP:0006285 (Frequente (79-30%))
- **Hipocalcificação do esmalte dentário** — HPO: HP:0011084 (Frequente (79-30%))
- **Anormalidade da morfologia do molar permanente** — HPO: HP:0011071 (Ocasional (29-5%))
- **Amelogênese imperfeita** — HPO: HP:0000705
- **Fóssulas no esmalte dentário** — HPO: HP:0009722
- **Dentes cariados** — HPO: HP:0000670
- **Esmalte hipomaduro** — HPO: HP:0033786
- **Sobremordida** — HPO: HP:0011094
- **Má oclusão dentária** — HPO: HP:0000689
- **Displasia ungueal** — HPO: HP:0002164
- **Microdontia generalizada** — HPO: HP:0006311
- **Anormalidade da pele** — HPO: HP:0000951
- **Nefrocalcinose** — HPO: HP:0000121
- **Supercrescimento** — HPO: HP:0001548
- **Capacidade de concentração renal prejudicada** — HPO: HP:0004727
- **Insuficiência renal** — HPO: HP:0000083
- **Calcificações pulpares em forma de punhal** — HPO: HP:0006302
- **Erupção atrasada dos dentes permanentes** — HPO: HP:0000696
- **Poliúria** — HPO: HP:0000103
- **Fibromatose gengival** — HPO: HP:0000169
- **Enurese** — HPO: HP:0000805
- **Hiperplasia gengival** — HPO: HP:0000212
- **Aumento do nível circulante de osteocalcina** — HPO: HP:0031428
- **Anormalidade do metabolismo cálcio-fosfato** — HPO: HP:0100530
- **Hipocalciúria** — HPO: HP:0003127
- _...e mais 12 sintomas. Ver https://raras.org/doenca/amelogenese-imperfeita._

## Genes associados (18)

- **AMBN** — Ameloblastin [Disease-causing germline mutation(s) in]
  - Função: Involved in the mineralization and structural organization of enamel
- **ACP4** — Testicular acid phosphatase [Disease-causing germline mutation(s) in]
  - Função: May dephosphorylate receptor tyrosine-protein kinase ERBB4 and inhibits its ligand-induced proteolytic cleavage (PubMed:15219672). May play a role in odontogenesis (PubMed:27843125)
- **MMP20** — Matrix metalloproteinase-20 [Disease-causing germline mutation(s) in]
  - Função: Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix prot
- **ITGB6** — Integrin beta-6 [Disease-causing germline mutation(s) in]
  - Função: Integrin alpha-V:beta-6 (ITGAV:ITGB6) is a receptor for fibronectin and cytotactin (PubMed:17158881, PubMed:17545607). It recognizes the sequence R-G-D in its ligands (PubMed:17158881, PubMed:17545607
- **AMELX** — Amelogenin, X isoform [Disease-causing germline mutation(s) in]
  - Função: Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization a
- **GPR68** — G-protein coupled receptor 68 [Disease-causing germline mutation(s) in]
  - Função: Proton-sensing G-protein coupled receptor activated by extracellular pH, which is required to monitor pH changes and generate adaptive reactions (PubMed:12955148, PubMed:29677517, PubMed:32865988, Pub
- **AMTN** — Amelotin [Disease-causing germline mutation(s) in]
  - Função: Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis
- **FAM83H** — Protein FAM83H [Disease-causing germline mutation(s) in]
  - Função: May play a major role in the structural organization and calcification of developing enamel (PubMed:18252228). May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin fila
- **DLX3** — Homeobox protein DLX-3 [Disease-causing germline mutation(s) in]
  - Função: Transcriptional activator (By similarity). Activates transcription of GNRHR, via binding to the downstream activin regulatory element (DARE) in the gene promoter (By similarity)
- **ODAPH** — Odontogenesis associated phosphoprotein [Disease-causing germline mutation(s) in]
  - Função: May promote nucleation of hydroxyapatite
- **KLK4** — Kallikrein-4 [Disease-causing germline mutation(s) in]
  - Função: Has a major role in enamel formation (PubMed:15235027). Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline m
- **ENAM** — Enamelin [Disease-causing germline mutation(s) in]
  - Função: Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation
- **SLC24A4** — Sodium/potassium/calcium exchanger 4 [Disease-causing germline mutation(s) in]
  - Função: Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) (PubMed:12379639, PubMed:26631410). Controls the rapid response termination and proper regulation of ad
- **FAM20A** — Pseudokinase FAM20A [Disease-causing germline mutation(s) in]
  - Função: Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the abili
- **LAMB3** — Laminin subunit beta-3 [Disease-causing germline mutation(s) in]
  - Função: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other ext

## Ensaios clínicos ativos (2)

- **NCT07250906** [RECRUITING]: Oral Health Related Quality of Life of Children With Amelogenesis Imperfecta — https://clinicaltrials.gov/study/NCT07250906
- **NCT04704089** [RECRUITING]: Colorimetric, Ultra-structural and Elemental Comparison of Dental Enamel Defects — https://clinicaltrials.gov/study/NCT04704089
- **NCT04927962** [COMPLETED]: Psycho-social Impact of Amelogenesis and Dentinogenesis Imperfecta — https://clinicaltrials.gov/study/NCT04927962
- **NCT05343247** [COMPLETED]: Dental Age Estimation by Different Methods in Patients With Amelogenesis Imperfecta — https://clinicaltrials.gov/study/NCT05343247
- **NCT03810859** [UNKNOWN]: Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants — https://clinicaltrials.gov/study/NCT03810859
- **NCT04897724** [UNKNOWN]: Clinical Performance of Composites in Patients With Amelogenesis Imperfecta — https://clinicaltrials.gov/study/NCT04897724
- **NCT01746121** [TERMINATED]: Amelogenesis Imperfecta — https://clinicaltrials.gov/study/NCT01746121
- **NCT02994862** [UNKNOWN]: E. Max Laminate Veneers With and Without Using Galla Chinnesis as Natural Cross Linking and Remineralizing Agent — https://clinicaltrials.gov/study/NCT02994862

## Doenças relacionadas (por similaridade fenotípica)

- [Fibromatose gengival - anomalias dentárias](https://raras.org/doenca/fibromatose-gengival-anomalias-dentarias) — ORPHA:171836 — 31 sintomas em comum
- [Síndrome esmalte-renal](https://raras.org/doenca/sindrome-esmalte-renal) — ORPHA:1031 — 31 sintomas em comum
- [Amelogênese imperfeita, tipo hipoplástica](https://raras.org/doenca/amelogenese-imperfeita-tipo-hipoplastica) — ORPHA:100031 — 14 sintomas em comum
- [Odontodisplasia regional](https://raras.org/doenca/odontodisplasia-regional) — ORPHA:83450 — 13 sintomas em comum
- [Alteração do transporte de magnésio](https://raras.org/doenca/alteracao-do-transporte-de-magnesio) — ORPHA:309848 — 11 sintomas em comum
- [Amelogênese imperfeita, tipo hipomaturação](https://raras.org/doenca/amelogenese-imperfeita-tipo-hipomaturacao) — ORPHA:100033 — 10 sintomas em comum
- [Raquitismo hipofosfatêmico](https://raras.org/doenca/raquitismo-hipofosfatemico) — ORPHA:437 — 10 sintomas em comum
- [Síndrome óculo-cerebro-renal de Lowe](https://raras.org/doenca/sindrome-oculo-cerebro-renal-de-lowe) — ORPHA:534 — 10 sintomas em comum
- [Hipomagnesemia primária com hipercalciúria e nefrocalcinose](https://raras.org/doenca/hipomagnesemia-primaria-com-hipercalciuria-e-nefrocalcinose) — ORPHA:306516 — 10 sintomas em comum
- [NÃO RARA NA EUROPA: Hipodontia](https://raras.org/doenca/nao-rara-na-europa-hipodontia) — ORPHA:2227 — 9 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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