# Agenesia renal unilateral

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

## Identificadores

- **ORPHA**: 93100 — https://www.orpha.net/en/disease/detail/93100
- **CID-10**: Q60.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Agenesia renal unilateral (URA) é uma forma de agenesia renal caracterizada pela completa ausência de desenvolvimento de um rim acompanhada de ausência de ureter.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant

## Genes associados (8)

- **UPK3A** — Uroplakin-3a [Disease-causing germline mutation(s) in]
  - Função: Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction i
- **FREM1** — FRAS1-related extracellular matrix protein 1 [Disease-causing germline mutation(s) in]
  - Função: Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development
- **DSTYK** — Dual serine/threonine and tyrosine protein kinase [Disease-causing germline mutation(s) in]
  - Função: Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation (PubMed:23862974, PubMed:28157540). Involved in the regulation of both caspase-dependent
- **FREM2** — FRAS1-related extracellular matrix protein 2 [Disease-causing germline mutation(s) in]
  - Função: Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia (PubMed:15838507). Required for epidermal adhesion (PubMed:15838507
- **FRAS1** — Extracellular matrix organizing protein FRAS1 [Disease-causing germline mutation(s) in]
  - Função: Involved in extracellular matrix organization (By similarity). Required for the regulation of epidermal-basement membrane adhesion responsible for proper organogenesis during embryonic development (By
- **GREB1L** — GREB1-like protein [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Plays a major role in early metanephros and genital development
- **RET** — Proto-oncogene tyrosine-protein kinase receptor Ret [Disease-causing germline mutation(s) in]
  - Função: Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation in response to glia cell line-deri
- **BMP4** — Bone morphogenetic protein 4 [Disease-causing germline mutation(s) in]
  - Função: Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis (PubMed:31363885). Act

## Ensaios clínicos ativos (1)

- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168

## 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 — Agenesia renal unilateral. Disponível em: https://raras.org/doenca/agenesia-renal-unilateral
**Formato HTML**: https://raras.org/doenca/agenesia-renal-unilateral
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=93100