# Síndrome Zellweger

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

## Identificadores

- **ORPHA**: 912 — https://www.orpha.net/en/disease/detail/912
- **CID-10**: Q87.8
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

É a forma mais grave das doenças relacionadas à formação dos peroxissomos. Caracteriza-se por problemas na migração das células nervosas no cérebro, alterações na forma do rosto e da cabeça, fraqueza muscular intensa, convulsões em recém-nascidos e problemas no funcionamento do fígado.

## Epidemiologia e herança

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

## Sinais e sintomas (336 fenótipos HPO)

- **Reflexos tendíneos reduzidos** — HPO: HP:0001315 (Muito frequente (99-80%))
- **Arritmia** — HPO: HP:0011675
- **Paralisia facial** — HPO: HP:0010628
- **Anormalidade da morfologia da epífise** — HPO: HP:0005930
- **Comportamento atípico** — HPO: HP:0000708
- **Anormalidade da face** — HPO: HP:0000271
- **Contratura articular da mão** — HPO: HP:0009473
- **Tremor** — HPO: HP:0001337
- **Sensação vibratória prejudicada** — HPO: HP:0002495
- **Movimentos sacádicos lentos** — HPO: HP:0000514
- **Perseguição suave prejudicada** — HPO: HP:0007772
- **Comprometimento sensorial distal** — HPO: HP:0002936
- **Reflexo aquileu ausente** — HPO: HP:0003438
- **Neuropatia axonal motora** — HPO: HP:0007002
- **Sensação vibratória distal prejudicada** — HPO: HP:0006886
- **Sacadas dismétricas** — HPO: HP:0000641
- **Menarca atrasada** — HPO: HP:0012569
- **Amiotrofia distal** — HPO: HP:0003693
- **Ataxia de membro** — HPO: HP:0002070
- **Tremor intencional** — HPO: HP:0002080
- **Dilatação** — HPO: HP:0002617
- **Nistagmo pendular** — HPO: HP:0012043
- **Fontanela anterior aberta persistente** — HPO: HP:0004474
- **Estado vegetativo** — HPO: HP:0031358
- **Nível elevado de gama-glutamiltransferase** — HPO: HP:0030948
- **Amiotrofia proximal** — HPO: HP:0007126
- **Alfa-fetoproteína elevada** — HPO: HP:0006254
- **Telangiectasia conjuntival** — HPO: HP:0000524
- **Tremor cefálico** — HPO: HP:0002346
- **Sensação de vibração prejudicada nos membros inferiores** — HPO: HP:0002166
- **Creatina quinase levemente elevada** — HPO: HP:0008180
- **Atrofia espinocerebelar** — HPO: HP:0007263
- **Degeneração coclear** — HPO: HP:0005102
- **Disartria espástica** — HPO: HP:0002464
- **Cegueira** — HPO: HP:0000618
- **Neuropatia sensorial** — HPO: HP:0000763
- **Neuropatia sensorimotora** — HPO: HP:0007141
- **Pequeno para a idade gestacional** — HPO: HP:0001518
- **Esplenomegalia** — HPO: HP:0001744
- **Aumento da concentração circulante de lactato desidrogenase** — HPO: HP:0025435
- _...e mais 296 sintomas. Ver https://raras.org/doenca/sindrome-zellweger._

## Genes associados (14)

- **PEX16** — Peroxisomal membrane protein PEX16 [Disease-causing germline mutation(s) in]
  - Função: Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from
- **PEX7** — Peroxisomal targeting signal 2 receptor [Disease-causing germline mutation(s) in]
  - Função: Receptor required for the peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal (PubMed:11931631, PubMed:22057399, PubMed:25538232, PubMed:9090381). Specificall
- **PEX12** — Peroxisome assembly protein 12 [Disease-causing germline mutation(s) in]
  - Função: Component of a retrotranslocation channel required for peroxisome organization by mediating export of the PEX5 receptor from peroxisomes to the cytosol, thereby promoting PEX5 recycling (PubMed:246622
- **PEX2** — Peroxisome biogenesis factor 2 [Disease-causing germline mutation(s) in]
  - Função: E3 ubiquitin-protein ligase component of a retrotranslocation channel required for peroxisome organization by mediating export of the PEX5 receptor from peroxisomes to the cytosol, thereby promoting P
- **PEX19** — Peroxisomal biogenesis factor 19 [Disease-causing germline mutation(s) in]
  - Função: Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cy
- **PEX3** — Peroxisomal biogenesis factor 3 [Disease-causing germline mutation(s) in]
  - Função: Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal me
- **PEX6** — Peroxisomal ATPase PEX6 [Disease-causing germline mutation(s) in]
  - Função: Component of the PEX1-PEX6 AAA ATPase complex, a protein dislocase complex that mediates the ATP-dependent extraction of the PEX5 receptor from peroxisomal membranes, an essential step for PEX5 recycl
- **PEX14** — Peroxisomal membrane protein PEX14 [Disease-causing germline mutation(s) in]
  - Função: Component of the PEX13-PEX14 docking complex, a translocon channel that specifically mediates the import of peroxisomal cargo proteins bound to PEX5 receptor (PubMed:24235149, PubMed:28765278, PubMed:
- **PEX10** — Peroxisome biogenesis factor 10 [Disease-causing germline mutation(s) in]
  - Função: E3 ubiquitin-protein ligase component of a retrotranslocation channel required for peroxisome organization by mediating export of the PEX5 receptor from peroxisomes to the cytosol, thereby promoting P
- **PEX1** — Peroxisomal ATPase PEX1 [Disease-causing germline mutation(s) in]
  - Função: Component of the PEX1-PEX6 AAA ATPase complex, a protein dislocase complex that mediates the ATP-dependent extraction of the PEX5 receptor from peroxisomal membranes, an essential step for PEX5 recycl
- **PEX13** — Peroxisomal membrane protein PEX13 [Disease-causing germline mutation(s) in]
  - Função: Component of the PEX13-PEX14 docking complex, a translocon channel that specifically mediates the import of peroxisomal cargo proteins bound to PEX5 receptor (PubMed:28765278, PubMed:8858165, PubMed:9
- **PEX11B** — Peroxisomal membrane protein 11B [Disease-causing germline mutation(s) in]
  - Função: Involved in peroxisomal proliferation (PubMed:9792670). May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane (PubMed:12618434). Promotes membrane
- **PEX26** — Peroxisome assembly protein 26 [Disease-causing germline mutation(s) in]
  - Função: Peroxisomal docking factor that anchors PEX1 and PEX6 to peroxisome membranes (PubMed:12717447, PubMed:12851857, PubMed:16257970, PubMed:16763195, PubMed:16854980, PubMed:21362118). PEX26 is therefore
- **PEX5** — Peroxisomal targeting signal 1 receptor [Disease-causing germline mutation(s) in]
  - Função: Receptor that mediates peroxisomal import of proteins containing a C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) (PubMed:11101887, PubMed:11336669, PubMed:12456682, PubMed:16

## Ensaios clínicos ativos (2)

- **NCT03047369** [RECRUITING]: The Myelin Disorders Biorepository Project — https://clinicaltrials.gov/study/NCT03047369
- **NCT02171104** [ACTIVE_NOT_RECRUITING]: MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis — https://clinicaltrials.gov/study/NCT02171104
- **NCT02699190** [COMPLETED]: LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies — https://clinicaltrials.gov/study/NCT02699190
- **NCT00007020** [COMPLETED]: Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid — https://clinicaltrials.gov/study/NCT00007020
- **NCT03856866** [COMPLETED]: Hydroxychloroquine Administration for Reduction of Pexophagy — https://clinicaltrials.gov/study/NCT03856866
- **NCT00004442** [TERMINATED]: Study of Bile Acids in Patients With Peroxisomal Disorders — https://clinicaltrials.gov/study/NCT00004442

## Doenças relacionadas (por similaridade fenotípica)

- [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 81 sintomas em comum
- [Doença da beta-oxidação peroxissomal](https://raras.org/doenca/doenca-da-beta-oxidacao-peroxissomal) — ORPHA:79188 — 80 sintomas em comum
- [Ataxia cerebelar sindrômica autossômica recessiva](https://raras.org/doenca/ataxia-cerebelar-sindromica-autossomica-recessiva) — ORPHA:98099 — 77 sintomas em comum
- [Monossomia parcial do braço curto do cromossomo 1](https://raras.org/doenca/monossomia-parcial-do-braco-curto-do-cromossomo-1) — ORPHA:261857 — 75 sintomas em comum
- [Síndrome de hipotonia-transtorno da linguagem-transtorno do desenvolvimento intelectual grave](https://raras.org/doenca/sindrome-de-hipotonia-transtorno-da-linguagem-transtorno-do-desenvolvimento-intelectual-grave) — ORPHA:371364 — 74 sintomas em comum
- [Duplicação/triplicação parcial do cromossomo 5](https://raras.org/doenca/duplicacaotriplicacao-parcial-do-cromossomo-5) — ORPHA:262211 — 73 sintomas em comum
- [Síndrome aneuploidia variada em mosaico](https://raras.org/doenca/sindrome-aneuploidia-variada-em-mosaico) — ORPHA:1052 — 67 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 67 sintomas em comum
- [Deficiência de complexo III isolada](https://raras.org/doenca/deficiencia-de-complexo-iii-isolada) — ORPHA:1460 — 65 sintomas em comum
- [Doença do metabolismo da ornitina](https://raras.org/doenca/doenca-do-metabolismo-da-ornitina) — ORPHA:289869 — 65 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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