# Coloboma da íris

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

## Identificadores

- **ORPHA**: 98944 — https://www.orpha.net/en/disease/detail/98944
- **CID-10**: Q13.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma condição de nascença ou adquirida (que aparece depois), caracterizada pela presença de um furo na íris ou bem ao lado dela.

## Epidemiologia e herança


## Genes associados (5)

- **FZD5** — Frizzled-5 [Disease-causing germline mutation(s) (gain of function) in]
  - Função: Receptor for Wnt proteins (PubMed:10097073, PubMed:20530549, PubMed:26908622, PubMed:9054360). Functions in the canonical Wnt/beta-catenin signaling pathway. In vitro activates WNT2, WNT10B, WNT5A, bu
- **ACTG1** — Actin, cytoplasmic 2 [Disease-causing germline mutation(s) in]
  - Função: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. May play a role in the repair of noise-induced stereoci
- **ABCB6** — ATP-binding cassette sub-family B member 6 [Disease-causing germline mutation(s) in]
  - Função: ATP-dependent transporter that catalyzes the transport of a broad-spectrum of porphyrins from the cytoplasm to the extracellular space through the plasma membrane or into the vesicle lumen (PubMed:176
- **SALL2** — Sal-like protein 2 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure
- **PAX6** — Paired box protein Pax-6 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity)

## Ensaios clínicos ativos (1)

- **NCT00368004** [TERMINATED]: Family Studies of Uveal Coloboma — https://clinicaltrials.gov/study/NCT00368004

## 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 — Coloboma da íris. Disponível em: https://raras.org/doenca/coloboma-da-iris
**Formato HTML**: https://raras.org/doenca/coloboma-da-iris
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=98944