# Catarata total de início precoce

> Página oficial: https://raras.org/doenca/catarata-total-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**: 98994 — https://www.orpha.net/en/disease/detail/98994
- **CID-10**: Q12.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Catarata total de início precoce é uma condição hereditária rara que causa opacificação completa do cristalino, levando à cegueira desde a infância. Mutações em genes como LIM2, CRYAA e HSF4 estão associadas a esta doença.

## Epidemiologia e herança


## Genes associados (17)

- **CRYBB2** — Beta-crystallin B2 [Disease-causing germline mutation(s) in]
  - Função: Crystallins are the dominant structural components of the vertebrate eye lens
- **SIPA1L3** — Signal-induced proliferation-associated 1-like protein 3 [Disease-causing germline mutation(s) in]
  - Função: Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217)
- **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
- **NHS** — Actin remodeling regulator NHS [Candidate gene tested 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
- **AGK** — Acylglycerol kinase, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively (PubMed:15939762). Does not phosphorylate sphi
- **LEMD2** — LEM domain-containing protein 2 [Disease-causing germline mutation(s) in]
  - Função: Nuclear lamina-associated inner nuclear membrane protein that is involved in nuclear structure organization, maintenance of nuclear envelope (NE) integrity and NE reformation after mitosis (PubMed:163
- **DNMBP** — Dynamin-binding protein [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Plays a critical role as a guanine nucleotide exchange factor (GEF) for CDC42 in several intracellular processes associated with the actin and microtubule cytoskeleton. Regulates the structure of apic
- **GCNT2** — N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase [Disease-causing germline mutation(s) in]
  - Função: Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development an
- **CRYGB** — Gamma-crystallin B [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) 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
- **EPHA2** — Ephrin type-A receptor 2 [Disease-causing germline mutation(s) in]
  - Função: Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The s
- **LSS** — Lanosterol synthase [Disease-causing germline mutation(s) in]
  - Função: Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (PubMed:14766201, PubMed:26200341, PubMed
- **FYCO1** — FYVE and coiled-coil domain-containing protein 1 [Disease-causing germline mutation(s) in]
  - Função: May mediate microtubule plus end-directed vesicle transport
- **PGRMC1** — Membrane-associated progesterone receptor component 1 [Disease-causing germline mutation(s) in]
  - Função: Component of a progesterone-binding protein complex (PubMed:28396637). Binds progesterone (PubMed:25675345). Has many reported cellular functions (heme homeostasis, interaction with CYPs). Required fo
- **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

## 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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