# Catarata nuclear de início precoce

> Página oficial: https://raras.org/doenca/catarata-nuclear-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**: 98991 — https://www.orpha.net/en/disease/detail/98991
- **CID-10**: Q12.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Catarata nuclear de início precoce é uma opacificação do cristalino que afeta a visão central desde a infância ou adolescência. Pode ser causada por mutações em genes como EPHA2, MIP, CRYGC, CRYBB2 e BFSP1.

## Epidemiologia e herança


## Sinais e sintomas (2 fenótipos HPO)

- **Catarata nuclear** — HPO: HP:0100018
- **Catarata** — HPO: HP:0000518

## Genes associados (18)

- **NHS** — Actin remodeling regulator NHS [Disease-causing germline mutation(s) in]
  - Função: May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial devel
- **CRYBA2** — Beta-crystallin A2 [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **UNC45B** — Protein unc-45 homolog B [Disease-causing germline mutation(s) in]
  - Função: Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens d
- **CRYBB1** — Beta-crystallin B1 [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **FYCO1** — FYVE and coiled-coil domain-containing protein 1 [Disease-causing germline mutation(s) in]
  - Função: May mediate microtubule plus end-directed vesicle transport
- **GJA8** — Gap junction alpha-8 protein [Disease-causing germline mutation(s) 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
- **CRYBB3** — Beta-crystallin B3 [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **CRYGD** — Gamma-crystallin D [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **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
- **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
- **WFS1** — Wolframin [Disease-causing germline mutation(s) in]
  - Função: Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store (PubMed:16989814). Negatively regulates the ER
- **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
- **CRYBA1** — Beta-crystallin A3 [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **BFSP1** — Filensin [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). Involved in altering the calcium regulation of MIP water pe
- **CRYBB2** — Beta-crystallin B2 [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens

## Doenças relacionadas (por similaridade fenotípica)

- [Criohidrocitose hereditária com estomatina reduzida](https://raras.org/doenca/criohidrocitose-hereditaria-com-estomatina-reduzida) — ORPHA:168577 — 2 sintomas em comum
- [Estomatocitose](https://raras.org/doenca/estomatocitose) — ORPHA:98365 — 2 sintomas em comum
- [Catarata zonular de início precoce](https://raras.org/doenca/catarata-zonular-de-inicio-precoce) — ORPHA:98995 — 2 sintomas em comum
- [Acidúria mevalônica](https://raras.org/doenca/aciduria-mevalonica) — ORPHA:29 — 2 sintomas em comum
- [Deficiência de mevalonato quinase](https://raras.org/doenca/deficiencia-de-mevalonato-quinase) — ORPHA:309025 — 2 sintomas em comum
- [Alteração do metabolismo da galactose](https://raras.org/doenca/alteracao-do-metabolismo-da-galactose) — ORPHA:308467 — 2 sintomas em comum
- [Distrofia da córnea](https://raras.org/doenca/distrofia-da-cornea) — ORPHA:34533 — 2 sintomas em comum
- [Catarata parcial de início precoce](https://raras.org/doenca/catarata-parcial-de-inicio-precoce) — ORPHA:98992 — 2 sintomas em comum
- [Deficiência de galactocinase](https://raras.org/doenca/deficiencia-de-galactocinase) — ORPHA:79237 — 2 sintomas em comum
- [Catarata não-sindrômica de início precoce](https://raras.org/doenca/catarata-nao-sindromica-de-inicio-precoce) — ORPHA:91492 — 2 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 — Catarata nuclear de início precoce. Disponível em: https://raras.org/doenca/catarata-nuclear-de-inicio-precoce
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