# Catarata pulverulenta

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

## Identificadores

- **ORPHA**: 98984 — https://www.orpha.net/en/disease/detail/98984
- **CID-10**: Q12.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Uma catarata que tem sua causa em uma mutação genética em apenas uma das cópias do gene CRYGC, localizado no cromossomo 2q33.

## Epidemiologia e herança


## Genes associados (9)

- **VIM** — Vimentin [Disease-causing germline mutation(s) in]
  - Função: Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells. Vimentin is attached to the nucleus, endoplasmic reticulum, and mitochondria, either
- **MAF** — Transcription factor Maf [Disease-causing germline mutation(s) in]
  - Função: Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up
- **CRYGC** — Gamma-crystallin C [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **GJA8** — Gap junction alpha-8 protein [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Structural component of eye lens gap junctions (PubMed:18006672, PubMed:19756179). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking
- **CRYGD** — Gamma-crystallin D [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **CRYBB1** — Beta-crystallin B1 [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **CRYBB2** — Beta-crystallin B2 [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
- **GJA3** — Gap junction alpha-3 protein [Disease-causing germline mutation(s) in]
  - Função: Structural component of lens fiber gap junctions (PubMed:30044662). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells (By similarity). They are formed by the docking

## 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 pulverulenta. Disponível em: https://raras.org/doenca/catarata-pulverulenta
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**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=98984