# Narcolepsia tipo 1

> Página oficial: https://raras.org/doenca/narcolepsia-tipo-1
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 2073 — https://www.orpha.net/en/disease/detail/2073
- **CID-10**: G47.4
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A narcolepsia com cataplexia é uma patologia do sono caracterizada por sonolência excessiva durante o dia com sono incontrolável e cataplexia (perda do tónus muscular frequentemente desencadeada por emoções agradáveis).

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Unknown

## Sinais e sintomas (35 fenótipos HPO)

- **Apneia do sono** — HPO: HP:0010535 (Ocasional (29-5%))
- **Anormalidade do desenvolvimento da boca** — HPO: HP:4000064
- **Puberdade precoce** — HPO: HP:0000826 (Ocasional (29-5%))
- **Disartria** — HPO: HP:0001350 (Ocasional (29-5%))
- **Depressão** — HPO: HP:0000716 (Ocasional (29-5%))
- **Enxaqueca** — HPO: HP:0002076 (Ocasional (29-5%))
- **Nictúria** — HPO: HP:0000017 (Frequente (79-30%))
- **Amnésia global transitória** — HPO: HP:0010534 (Muito frequente (99-80%))
- **Hipertensão** — HPO: HP:0000822 (Frequente (79-30%))
- **Função pupilar anormal** — HPO: HP:0007686 (Frequente (79-30%))
- **Sialorreia** — HPO: HP:0002307 (Frequente (79-30%))
- **Transtorno do déficit de atenção com hiperatividade** — HPO: HP:0007018 (Frequente (79-30%))
- **Parassonia do sono não REM** — HPO: HP:0025235 (Frequente (79-30%))
- **Anormalidade do sono** — HPO: HP:0002360 (Muito frequente (99-80%))
- **Alucinações hipnagógicas** — HPO: HP:0002519 (Frequente (79-30%))
- **Sono REM anormal** — HPO: HP:0002494 (Frequente (79-30%))
- **Disfunção sexual feminina** — HPO: HP:0030014 (Frequente (79-30%))
- **Alucinações** — HPO: HP:0000738 (Muito frequente (99-80%))
- **Cataplexia** — HPO: HP:0002524 (Muito frequente (99-80%))
- **Inquietação** — HPO: HP:0000711 (Ocasional (29-5%))
- **Constipação** — HPO: HP:0002019 (Frequente (79-30%))
- **Hiperidrose** — HPO: HP:0000975 (Frequente (79-30%))
- **Ansiedade** — HPO: HP:0000739 (Frequente (79-30%))
- **Obesidade** — HPO: HP:0001513 (Ocasional (29-5%))
- **Pernas inquietas** — HPO: HP:0012452 (Frequente (79-30%))
- **Disfunção sexual masculina** — HPO: HP:0040307 (Frequente (79-30%))
- **Paralisia do sono** — HPO: HP:0025233 (Ocasional (29-5%))
- **Alucinações hipnopômpicas** — HPO: HP:0006896 (Frequente (79-30%))
- **Psicose** — HPO: HP:0000709 (Raro (<5%))
- **Síncope** — HPO: HP:0001279 (Ocasional (29-5%))
- **Sonolência diurna excessiva** — HPO: HP:0001262 (Muito frequente (99-80%))
- **Período de movimento rápido dos olhos no início do sono** — HPO: HP:5200356
- **Ataque de sono** — HPO: HP:0002330
- **Apneia obstrutiva do sono** — HPO: HP:0002870
- **Diabetes mellitus tipo 2** — HPO: HP:0005978

## Genes associados (8)

- **HLA-DRB1** — HLA class II histocompatibility antigen, DRB1 beta chain [Major susceptibility factor in]
  - Função: A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA-DRA, displays antigenic peptides on professional antigen presenting c
- **P2RY11** — P2Y purinoceptor 11 [Major susceptibility factor in]
  - Função: Receptor for ATP and ADP coupled to G-proteins that activate both phosphatidylinositol-calcium and adenylyl cyclase second messenger systems. Not activated by UTP or UDP
- **HCRT** — Hypocretin neuropeptide precursor [Major susceptibility factor in]
  - Função: Neuropeptides that play a significant role in the regulation of food intake and sleep-wakefulness, possibly by coordinating the complex behavioral and physiologic responses of these complementary home
- **CTSH** — Pro-cathepsin H [Major susceptibility factor in]
  - Função: Important for the overall degradation of proteins in lysosomes
- **MOG** — Myelin-oligodendrocyte glycoprotein [Major susceptibility factor in]
  - Função: Mediates homophilic cell-cell adhesion (By similarity). Minor component of the myelin sheath. May be involved in completion and/or maintenance of the myelin sheath and in cell-cell communication (Micr
- **ZNF365** — Talanin [Major susceptibility factor in]
  - Função: May play a role in uric acid excretion
- **HLA-DQB1** — HLA class II histocompatibility antigen, DQ beta 1 chain [Major susceptibility factor in]
  - Função: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cle
- **TNFSF4** — Tumor necrosis factor ligand superfamily member 4 [Major susceptibility factor in]
  - Função: Cytokine that binds to TNFRSF4. Co-stimulates T-cell proliferation and cytokine production

## Ensaios clínicos ativos (18)

- **NCT07455383** [RECRUITING]: A Study to Evaluate the Efficacy and Safety of ALKS 2680 in Adults With Narcolepsy Type 1 — https://clinicaltrials.gov/study/NCT07455383
- **NCT07096674** [RECRUITING]: A Long-term Extension Study of ORX750 in Participants With Narcolepsy and Idiopathic Hypersomnia — https://clinicaltrials.gov/study/NCT07096674
- **NCT07363720** [RECRUITING]: A Trial of TAK-861 for the Treatment of Narcolepsy With Cataplexy — https://clinicaltrials.gov/study/NCT07363720
- **NCT05816382** [RECRUITING]: A Study of TAK-861 for the Treatment of Selected Central Hypersomnia Conditions — https://clinicaltrials.gov/study/NCT05816382
- **NCT07299097** [RECRUITING]: Epidemiology of Narcolepsy Type 1 and Type 2 in Spain — https://clinicaltrials.gov/study/NCT07299097
- **NCT06767683** [RECRUITING]: A Long-Term Study of ALKS 2680 in Subjects With Narcolepsy and Idiopathic Hypersomnia — https://clinicaltrials.gov/study/NCT06767683
- **NCT07365566** [RECRUITING]: Pain Assessment in Patients With Idiopathic REM Sleep Behaviour Disorder — https://clinicaltrials.gov/study/NCT07365566
- **NCT06292598** [RECRUITING]: Bacterial Translocation and Gut Microbiota in Type 1 Narcolepsy Patients Versus a Control Population — https://clinicaltrials.gov/study/NCT06292598
- **NCT06809803** [RECRUITING]: Extended-release Sodium Oxybate in Children — https://clinicaltrials.gov/study/NCT06809803
- **NCT06752668** [RECRUITING]: A Study of ORX750 in Participants With Narcolepsy and Idiopathic Hypersomnia — https://clinicaltrials.gov/study/NCT06752668

## Doenças relacionadas (por similaridade fenotípica)

- [Narcolepsia](https://raras.org/doenca/narcolepsia) — ORPHA:619284 — 35 sintomas em comum
- [Distrofia miotônica](https://raras.org/doenca/distrofia-miotonica) — ORPHA:206647 — 11 sintomas em comum
- [NÃO RARA NA EUROPA: Doença de Parkinson](https://raras.org/doenca/nao-rara-na-europa-doenca-de-parkinson) — ORPHA:319705 — 11 sintomas em comum
- [Porfiria hepática](https://raras.org/doenca/porfiria-hepatica) — ORPHA:659694 — 9 sintomas em comum
- [Acromegalia](https://raras.org/doenca/acromegalia) — ORPHA:963 — 9 sintomas em comum
- [Porfiria aguda intermitente](https://raras.org/doenca/porfiria-aguda-intermitente) — ORPHA:79276 — 8 sintomas em comum
- [Doença de Parkinson de início juvenil](https://raras.org/doenca/doenca-de-parkinson-de-inicio-juvenil) — ORPHA:2828 — 8 sintomas em comum
- [Síndrome de Kleefstra](https://raras.org/doenca/sindrome-de-kleefstra) — ORPHA:261494 — 8 sintomas em comum
- [Síndrome Schaaf-Yang](https://raras.org/doenca/sindrome-schaaf-yang) — ORPHA:398069 — 8 sintomas em comum
- [Epilepsia parcial familiar](https://raras.org/doenca/epilepsia-parcial-familiar) — ORPHA:309 — 8 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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