# Oligodontia

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

## Identificadores

- **ORPHA**: 99798 — https://www.orpha.net/en/disease/detail/99798
- **CID-10**: K00.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Doença dentária caracterizada pela incapacidade de desenvolver um ou mais dentes perdidos.

## Epidemiologia e herança

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

## Sinais e sintomas (57 fenótipos HPO)

- **Pele fina** — HPO: HP:0000963
- **Agenesia dos dentes permanentes** — HPO: HP:0006349
- **Anormalidade dos dentes decíduos** — HPO: HP:0006481
- **Pelos corporais esparsos** — HPO: HP:0002231
- **Anodontia** — HPO: HP:0000674
- **Infecção do trato respiratório** — HPO: HP:0011947
- **Aplasia da maxila** — HPO: HP:0010667
- **Intolerância ao calor** — HPO: HP:0002046
- **Orelhas de implantação baixa** — HPO: HP:0000369
- **Palato ogival** — HPO: HP:0000218
- **Agenesia de incisivo lateral** — HPO: HP:0200153
- **Agenesia do molar** — HPO: HP:0011054
- **Microcefalia** — HPO: HP:0000252
- **Testa estreita** — HPO: HP:0000341
- **Unha do pé distrófica** — HPO: HP:0001810
- **Unhas distróficas** — HPO: HP:0008391
- **Hiperidrose palmoplantar** — HPO: HP:0007410
- **Fotofobia** — HPO: HP:0000613
- **Sobrancelha esparsa** — HPO: HP:0045075
- **Mastigação prejudicada** — HPO: HP:0005216 (Muito frequente (99-80%))
- **Oligodontia** — HPO: HP:0000677
- **Anormalidade da morfologia do molar primário** — HPO: HP:0006344 (Ocasional (29-5%))
- **Face curta** — HPO: HP:0011219 (Ocasional (29-5%))
- **Eclábio** — HPO: HP:0012472 (Ocasional (29-5%))
- **Má oclusão dentária** — HPO: HP:0000689 (Frequente (79-30%))
- **Microdontia** — HPO: HP:0000691 (Frequente (79-30%))
- **Erupção atrasada dos dentes** — HPO: HP:0000684 (Frequente (79-30%))
- **Dentes amplamente espaçados** — HPO: HP:0000687 (Frequente (79-30%))
- **Agenesia do incisivo lateral maxilar** — HPO: HP:0000690 (Frequente (79-30%))
- **Fenda orofacial** — HPO: HP:0000202 (Ocasional (29-5%))
- **Agenesia do primeiro molar permanente** — HPO: HP:0011056 (Frequente (79-30%))
- **Incisivos laterais superiores em forma de pino** — HPO: HP:0006342 (Ocasional (29-5%))
- **Raízes dentárias curtas** — HPO: HP:0006336 (Frequente (79-30%))
- **Agenesia do pré-molar** — HPO: HP:0011051 (Frequente (79-30%))
- **Taurodontia** — HPO: HP:0000679 (Ocasional (29-5%))
- **Hipoplasia do esmalte** — HPO: HP:0006297 (Ocasional (29-5%))
- **Morfologia dentária anormal** — HPO: HP:0006482 (Ocasional (29-5%))
- **Agenesia do pré-molar mandibular** — HPO: HP:0011053 (Ocasional (29-5%))
- **Anormalidade do canino** — HPO: HP:0011078 (Ocasional (29-5%))
- **Hipoplasia dos dentes** — HPO: HP:0000685 (Ocasional (29-5%))
- _...e mais 17 sintomas. Ver https://raras.org/doenca/oligodontia._

## Genes associados (13)

- **TGFA** — Protransforming growth factor alpha [Disease-causing germline mutation(s) in]
  - Função: TGF alpha is a mitogenic polypeptide that is able to bind to the EGF receptor/EGFR and to act synergistically with TGF beta to promote anchorage-independent cell proliferation in soft agar
- **TSPEAR** — Thrombospondin-type laminin G domain and EAR repeat-containing protein [Disease-causing germline mutation(s) in]
  - Função: Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway (PubMed:27736875). May play a role in development or function of the auditory system (P
- **WNT10A** — Protein Wnt-10a [Disease-causing germline mutation(s) in]
  - Função: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays a role in normal ectoderm de
- **FGFR1** — Fibroblast growth factor receptor 1 [Disease-causing germline mutation(s) in]
  - Função: Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation a
- **EDA** — Ectodysplasin-A [Disease-causing germline mutation(s) in]
  - Função: Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:
- **SUMO1** — Small ubiquitin-related modifier 1 [Candidate gene tested in]
  - Função: Ubiquitin-like protein that can be covalently attached to proteins as a monomer or a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by th
- **WNT10B** — Protein Wnt-10b [Disease-causing germline mutation(s) in]
  - Função: Member of the Wnt ligand gene family that encodes for secreted proteins, which activate the Wnt signaling cascade. Specifically activates canonical Wnt/beta-catenin signaling and thus triggers beta-ca
- **EDARADD** — Ectodysplasin-A receptor-associated adapter protein [Disease-causing germline mutation(s) in]
  - Função: Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B
- **IRF6** — Interferon regulatory factor 6 [Disease-causing germline mutation(s) in]
  - Função: Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in
- **LRP6** — Low-density lipoprotein receptor-related protein 6 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes (PubMed:11357136, PubMed:1144
- **PAX9** — Paired box protein Pax-9 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs
- **MSX1** — Homeobox protein MSX-1 [Disease-causing germline mutation(s) in]
  - Função: Acts as a transcriptional repressor (By similarity). Capable of transcription autoinactivation (By similarity). Binds to the consensus sequence 5'-C/GTAAT-3' in downstream activin regulatory elements
- **GREM2** — Gremlin-2 [Disease-causing germline mutation(s) in]
  - Função: Cytokine that inhibits the activity of BMP2 and BMP4 in a dose-dependent manner, and thereby modulates signaling by BMP family members. Contributes to the regulation of embryonic morphogenesis via BMP

## Doenças relacionadas (por similaridade fenotípica)

- [NÃO RARA NA EUROPA: Hipodontia](https://raras.org/doenca/nao-rara-na-europa-hipodontia) — ORPHA:2227 — 57 sintomas em comum
- [Displasia ectodérmica hipohidrótica](https://raras.org/doenca/displasia-ectodermica-hipohidrotica) — ORPHA:238468 — 20 sintomas em comum
- [Displasia ectodérmica hipohidrótica autossômica recessiva](https://raras.org/doenca/displasia-ectodermica-hipohidrotica-autossomica-recessiva) — ORPHA:248 — 16 sintomas em comum
- [Síndrome EEC](https://raras.org/doenca/sindrome-eec) — ORPHA:1896 — 14 sintomas em comum
- [Displasia ectodérmica hipohidrótica autossômica dominante](https://raras.org/doenca/displasia-ectodermica-hipohidrotica-autossomica-dominante) — ORPHA:1810 — 14 sintomas em comum
- [Síndrome Seckel](https://raras.org/doenca/sindrome-seckel) — ORPHA:808 — 13 sintomas em comum
- [Displasia oculo-dento-digital](https://raras.org/doenca/displasia-oculo-dento-digital) — ORPHA:2710 — 13 sintomas em comum
- [Tricotiodistrofia](https://raras.org/doenca/tricotiodistrofia) — ORPHA:33364 — 13 sintomas em comum
- [Displasia ectodérmica hipohidrótica ligada ao X](https://raras.org/doenca/displasia-ectodermica-hipohidrotica-ligada-ao-x) — ORPHA:181 — 12 sintomas em comum
- [Síndrome Rothmund-Thomson](https://raras.org/doenca/sindrome-rothmund-thomson) — ORPHA:2909 — 12 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Oligodontia. Disponível em: https://raras.org/doenca/oligodontia
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