# Nefroblastoma

> Página oficial: https://raras.org/doenca/nefroblastoma
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-08

## Identificadores

- **ORPHA**: 654 — https://www.orpha.net/en/disease/detail/654
- **CID-10**: C64
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O nefroblastoma é o tumor renal maligno mais frequente em crianças e está associado a uma proliferação anormal de células que se assemelham a células renais de um embrião (metanefroma), levando ao termo tumor embrionário.

## Epidemiologia e herança

- **Prevalência**: 1-9 / 100 000
- **Padrão de herança**: Autosomal dominant, Not applicable

## Sinais e sintomas (28 fenótipos HPO)

- **Neoplasia** — HPO: HP:0002664 (Muito frequente (99-80%))
- **Duplicação da pelve renal** — HPO: HP:0005580 (Frequente (79-30%))
- **Rim ectópico** — HPO: HP:0000086 (Ocasional (29-5%))
- **Massa abdominal** — HPO: HP:0031500 (Muito frequente (99-80%))
- **Dispneia** — HPO: HP:0002094 (Raro (<5%))
- **Hematúria macroscópica** — HPO: HP:0012587 (Frequente (79-30%))
- **Nefroblastoma** — HPO: HP:0002667 (Muito frequente (99-80%))
- **Mal-estar** — HPO: HP:0033834 (Ocasional (29-5%))
- **Hematúria microscópica** — HPO: HP:0002907 (Ocasional (29-5%))
- **Dor abdominal** — HPO: HP:0002027 (Frequente (79-30%))
- **Criptorquidia** — HPO: HP:0000028 (Ocasional (29-5%))
- **Anemia** — HPO: HP:0001903 (Ocasional (29-5%))
- **Varicocele** — HPO: HP:0012871 (Ocasional (29-5%))
- **Perda de peso** — HPO: HP:0001824 (Ocasional (29-5%))
- **Atividade reduzida do fator de von Willebrand** — HPO: HP:0008330 (Ocasional (29-5%))
- **Rim em ferradura** — HPO: HP:0000085 (Ocasional (29-5%))
- **Neoplasia do fígado** — HPO: HP:0002896 (Ocasional (29-5%))
- **Hipospadia** — HPO: HP:0000047 (Ocasional (29-5%))
- **Morfologia anormal do útero** — HPO: HP:0031105 (Ocasional (29-5%))
- **Febre** — HPO: HP:0001945 (Ocasional (29-5%))
- **Linfadenopatia** — HPO: HP:0002716 (Ocasional (29-5%))
- **Hipertensão** — HPO: HP:0000822 (Ocasional (29-5%))
- **Neoplasia do pulmão** — HPO: HP:0100526 (Ocasional (29-5%))
- **Policitemia** — HPO: HP:0001901 (Ocasional (29-5%))
- **Aniridia** — HPO: HP:0000526 (Ocasional (29-5%))
- **Hemi-hipertrofia** — HPO: HP:0001528 (Ocasional (29-5%))
- **Hipercalcemia** — HPO: HP:0003072 (Ocasional (29-5%))
- **Início na idade adulta** — HPO: HP:0003581

## Genes associados (10)

- **CTR9** — RNA polymerase-associated protein CTR9 homolog [Disease-causing germline mutation(s) in]
  - Função: Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluri
- **H19** [Role in the phenotype of]
- **BRCA2** — Breast cancer type 2 susceptibility protein [Candidate gene tested in]
  - Função: Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by
- **TRIM28** — Transcription intermediary factor 1-beta [Disease-causing somatic mutation(s) in]
  - Função: Nuclear corepressor for KRAB domain-containing zinc finger proteins (KRAB-ZFPs). Mediates gene silencing by recruiting CHD3, a subunit of the nucleosome remodeling and deacetylation (NuRD) complex, an
- **POU6F2** — POU domain, class 6, transcription factor 2 [Major susceptibility factor in]
  - Função: Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5'-ATGCAAAT-3'. Isoform 1 does not bi
- **TRIP13** — Pachytene checkpoint protein 2 homolog [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed fo
- **REST** — RE1-silencing transcription factor [Major susceptibility factor in]
  - Função: Transcriptional repressor which binds neuron-restrictive silencer element (NRSE) and represses neuronal gene transcription in non-neuronal cells (PubMed:11741002, PubMed:11779185, PubMed:12399542, Pub
- **WT1** — Wilms tumor protein [Major susceptibility factor in]
  - Função: Transcription factor that plays an important role in cellular development and cell survival (PubMed:7862533). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3' (PubMed:17716689, PubMed:2525
- **DIS3L2** — DIS3-like exonuclease 2 [Major susceptibility factor in]
  - Função: 3'-5'-exoribonuclease that specifically recognizes RNAs polyuridylated at their 3' end and mediates their degradation. Component of an exosome-independent RNA degradation pathway that mediates degrada
- **GPC3** — Glypican-3 [Biomarker tested in]
  - Função: Cell surface proteoglycan (PubMed:14610063). Negatively regulates the hedgehog signaling pathway when attached via the GPI-anchor to the cell surface by competing with the hedgehog receptor PTC1 for b

## Ensaios clínicos ativos (3)

- **NCT04423484** [RECRUITING]: Therapeutic Recommendations for Nephroblastoma — https://clinicaltrials.gov/study/NCT04423484
- **NCT05985161** [RECRUITING]: A Study of Selinexor in People With Wilms Tumors and Other Solid Tumors — https://clinicaltrials.gov/study/NCT05985161
- **NCT00945009** [ACTIVE_NOT_RECRUITING]: Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor — https://clinicaltrials.gov/study/NCT00945009
- **NCT05195411** [COMPLETED]: Vascular Thrombus Involvement in Nephroblastoma — https://clinicaltrials.gov/study/NCT05195411

## Doenças relacionadas (por similaridade fenotípica)

- [Sarcoma de tecidos moles](https://raras.org/doenca/sarcoma-de-tecidos-moles) — ORPHA:3394 — 11 sintomas em comum
- [Doença mieloproliferativa crônica](https://raras.org/doenca/doenca-mieloproliferativa-cronica) — ORPHA:98274 — 9 sintomas em comum
- [Hemopatia mieloide](https://raras.org/doenca/hemopatia-mieloide) — ORPHA:171895 — 9 sintomas em comum
- [Carcinoma do fígado e trato biliar intra-hepático](https://raras.org/doenca/424936) — ORPHA:424936 — 8 sintomas em comum
- [Neoplasias endócrinas múltiplas](https://raras.org/doenca/neoplasias-endocrinas-multiplas) — ORPHA:100094 — 8 sintomas em comum
- [Doença Castleman](https://raras.org/doenca/doenca-castleman) — ORPHA:160 — 8 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 8 sintomas em comum
- [Tumores rabdoides](https://raras.org/doenca/tumores-rabdoides) — ORPHA:69077 — 8 sintomas em comum
- [Doença linfoproliferativa associada a vírus Epstein-Barr](https://raras.org/doenca/doenca-linfoproliferativa-associada-a-virus-epstein-barr) — ORPHA:289644 — 7 sintomas em comum
- [Linfoma não-Hodgkin de células B](https://raras.org/doenca/linfoma-nao-hodgkin-de-celulas-b) — ORPHA:171915 — 7 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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