# Catarata lamelar de início precoce

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

## Identificadores

- **ORPHA**: 441452 — https://www.orpha.net/en/disease/detail/441452
- **CID-10**: H26.8
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Catarata lamelar de início precoce é uma opacificação hereditária do cristalino, afetando as camadas internas e manifestando-se na infância. Associada a mutações em genes como CRYGS e HSF4, pode causar perda visual significativa.

## Epidemiologia e herança


## Genes associados (11)

- **CRYGS** — Gamma-crystallin S [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **CRYGB** — Gamma-crystallin B [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **MIP** — Lens fiber major intrinsic protein [Disease-causing germline mutation(s) in]
  - Função: Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient (PubMed:11001937, PubMed:24120416
- **HSF4** — Heat shock factor protein 4 [Disease-causing germline mutation(s) in]
  - Função: Heat-shock transcription factor that specifically binds heat shock promoter elements (HSE) (PubMed:22587838, PubMed:23507146). Required for denucleation and organelle rupture and degradation that occu
- **CRYAA** — Alpha-crystallin A chain [Disease-causing germline mutation(s) in]
  - Função: Contributes to the transparency and refractive index of the lens (PubMed:18302245). In its oxidized form (absence of intramolecular disulfide bond), acts as a chaperone, preventing aggregation of vari
- **CRYBA4** — Beta-crystallin A4 [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **CRYAB** — Alpha-crystallin B chain [Disease-causing germline mutation(s) in]
  - Função: May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. In lens epithelial
- **CRYGC** — Gamma-crystallin C [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **CRYBA1** — Beta-crystallin A3 [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **BFSP2** — Phakinin [Disease-causing germline mutation(s) in]
  - Função: Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Plays a role in maintenance of retinal lens optical clarity
- **CRYGD** — Gamma-crystallin D [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens

## 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 — Catarata lamelar de início precoce. Disponível em: https://raras.org/doenca/catarata-lamelar-de-inicio-precoce
**Formato HTML**: https://raras.org/doenca/catarata-lamelar-de-inicio-precoce
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=441452