# Neuropatia periférica, genética

> Página oficial: https://raras.org/doenca/neuropatia-periferica-genetica
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-21

## Identificadores

- **ORPHA**: 98497 — https://www.orpha.net/en/disease/detail/98497
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um caso de neuropatia periférica causada por uma modificação genômica herdada em um indivíduo.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000

## Sinais e sintomas (1792 fenótipos HPO)

- **Pé cavo** — HPO: HP:0001761
- **Deformidades congênitas de contratura do pé** — HPO: HP:0005853
- **Anormalidade da gengiva** — HPO: HP:0000168
- **Morfologia anormal do hipocampo** — HPO: HP:0025100
- **Crepitação da articulação temporomandibular** — HPO: HP:0012479
- **Bater a cabeça** — HPO: HP:0012168
- **Tricotilomania** — HPO: HP:0012167
- **Comportamentos compulsivos** — HPO: HP:0000722
- **Blefaroespasmo** — HPO: HP:0000643
- **Aumento da beta-hexosaminidase sérica** — HPO: HP:0003333
- **Mania** — HPO: HP:0100754
- **Função ventricular cardíaca anormal** — HPO: HP:0030872
- **Hiperisoleucinemia** — HPO: HP:0010913
- **Comportamento inapropriado** — HPO: HP:0000719
- **Fala ausente** — HPO: HP:0001344
- **Concentração diminuída de carnitina circulante** — HPO: HP:0003234
- **Hipercoagulabilidade** — HPO: HP:0100724
- **Encefalopatia hepática** — HPO: HP:0002480
- **Distonia oromandibular** — HPO: HP:0012048
- **Atrofia cortical frontal** — HPO: HP:0006913
- **Movimentos sacádicos em onda quadrada** — HPO: HP:0025402
- **Distonia de membro** — HPO: HP:0002451
- **Anormalidade do metabolismo de glicolipídeos** — HPO: HP:0010969
- **Anormalidade da dentição** — HPO: HP:0000164
- **Morfologia anormal do putâmen** — HPO: HP:0031982
- **Micrografia** — HPO: HP:0031908
- **Bradifrenia** — HPO: HP:0031843
- **Distonia lingual** — HPO: HP:0031008
- **Hipocampo hipoplásico** — HPO: HP:0025517
- **Autonegligência** — HPO: HP:0025479
- **Paranoia** — HPO: HP:0011999
- **Bradicinesia** — HPO: HP:0002067
- **Tiques fônicos** — HPO: HP:0100035
- **Tiques motores** — HPO: HP:0100034
- **Atividade enzimática eritrocitária anormal** — HPO: HP:0030272
- **Extensão limitada do joelho** — HPO: HP:0003066
- **Níveis plasmáticos elevados de aminoácidos de cadeia ramificada** — HPO: HP:0008344
- **Face estreita** — HPO: HP:0000275
- **Anormalidade da morfologia da epífise** — HPO: HP:0005930
- **Anormalidade do sistema urinário** — HPO: HP:0000079
- _...e mais 1752 sintomas. Ver https://raras.org/doenca/neuropatia-periferica-genetica._

## Genes associados (81)

- **FH** — Fumarate hydratase, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Catalyzes the reversible stereospecific interconversion of fumarate to L-malate (PubMed:30761759). Experiments in other species have demonstrated that specific isoforms of this protein act in defined
- **MT-TV** [Candidate gene tested in]
- **MT-ND3** — NADH-ubiquinone oxidoreductase chain 3 [Candidate gene tested in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **ARSA** — ATPase GET3 [Candidate gene tested in]
  - Função: ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum (PubMed:17382883). Recognizes and selectively binds the transmembrane domain of TA prote
- **GAN** — Gigaxonin [Candidate gene tested in]
  - Função: Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex whi
- **YARS1** — Tyrosine--tRNA ligase, cytoplasmic [Candidate gene tested in]
  - Função: Tyrosine--tRNA ligase that catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA
- **IARS2** — Isoleucine--tRNA ligase, mitochondrial [Candidate gene tested in]
  - Função: Aminoacyl-tRNA synthetase that catalyzes the specific attachment of isoleucine to its cognate tRNA (tRNA(Ile))
- **HARS1** — Histidine--tRNA ligase, cytoplasmic [Candidate gene tested in]
  - Função: Catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP) (PubMed:29235198). Plays a role in axon guidance
- **DYNC1H1** — Cytoplasmic dynein 1 heavy chain 1 [Candidate gene tested in]
  - Função: Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to
- **RRM2B** — Ribonucleoside-diphosphate reductase subunit M2 B [Candidate gene tested in]
  - Função: Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free
- **COQ4** — Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial [Candidate gene tested in]
  - Função: Lyase that catalyzes the C1-decarboxylation of 4-hydroxy-3-methoxy-5-(all-trans-decaprenyl)benzoic acid into 2-methoxy-6-(all-trans-decaprenyl)phenol during ubiquinone biosynthesis
- **GDAP1** — Ganglioside-induced differentiation-associated protein 1 [Candidate gene tested in]
  - Função: Regulates the mitochondrial network by promoting mitochondrial fission
- **MARS1** — Methionine--tRNA ligase, cytoplasmic [Candidate gene tested in]
  - Função: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of th
- **FDXR** — NADPH:adrenodoxin oxidoreductase, mitochondrial [Candidate gene tested in]
  - Função: Serves as the first electron transfer protein in all the mitochondrial P450 systems including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal
- **PEX11B** — Peroxisomal membrane protein 11B [Candidate gene tested 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

## Medicamentos em desenvolvimento (18)

- PATISIRAN SODIUM — Fase Phase 4 (Transthyretin mRNA RNAi inhibitor)
- VUTRISIRAN SODIUM — Fase Phase 4 (Transthyretin mRNA rnai inhibitor)
- INOTERSEN SODIUM — Fase Phase 4 (Transthyretin mRNA antisense inhibitor)
- VUTRISIRAN — Fase Phase 4 (Transthyretin mRNA rnai inhibitor)
- CHENODIOL — Fase Phase 4 (Bile acid receptor FXR agonist)
- RISDIPLAM — Fase Phase 4 (SMN2 pre-mRNA positive modulator)
- TORIPALIMAB — Fase Phase 4 (Programmed cell death protein 1 antagonist)
- ATIDARSAGENE AUTOTEMCEL — Fase Phase 4 (ARSA exogenous gene)
- PATISIRAN — Fase Phase 3 (Transthyretin mRNA RNAi inhibitor)
- INOTERSEN — Fase Phase 3 (Transthyretin mRNA antisense inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0020127

## Ensaios clínicos ativos (5)

- **NCT01089101** [ACTIVE_NOT_RECRUITING]: Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma — https://clinicaltrials.gov/study/NCT01089101
- **NCT03871257** [ACTIVE_NOT_RECRUITING]: A Study of the Drugs Selumetinib Versus Carboplatin/Vincristine in Patients With Neurofibromatosis and Low-Grade Glioma — https://clinicaltrials.gov/study/NCT03871257
- **NCT03190915** [ACTIVE_NOT_RECRUITING]: Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia — https://clinicaltrials.gov/study/NCT03190915
- **NCT06507748** [RECRUITING]: A Study to Evaluate the Feasibility of a Physiologic Biomarker to Assess Pain and Other Sensory Problems Using Pupillometry in Participants With Neurofibromatosis Type 1 (NF1) — https://clinicaltrials.gov/study/NCT06507748
- **NCT00111384** [COMPLETED]: Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1) — https://clinicaltrials.gov/study/NCT00111384

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## 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 — Neuropatia periférica, genética. Disponível em: https://raras.org/doenca/neuropatia-periferica-genetica
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