# Tumor carcinoide e síndrome carcinoide

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

## Identificadores

- **ORPHA**: 100093 — https://www.orpha.net/en/disease/detail/100093
- **CID-10**: E34.0
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Tumor carcinoide e síndrome carcinoide são condições associadas a tumores neuroendócrinos, frequentemente pulmonares, que produzem excesso de serotonina. Isso pode levar a sintomas como diarreia, rubor, sopros cardíacos e rinorreia, com mutações no gene SDHD sendo um fator de risco.

## Epidemiologia e herança


## Sinais e sintomas (27 fenótipos HPO)

- **Tumor carcinoide pulmonar** — HPO: HP:0030445 (Ocasional (29-5%))
- **Tumor carcinoide pulmonar atípico** — HPO: HP:0030446 (Raro (<5%))
- **Ausência de ruídos hidroaéreos** — HPO: HP:0030145 (Raro (<5%))
- **Aumento da serotonina sérica** — HPO: HP:0003144 (Ocasional (29-5%))
- **Rinorreia** — HPO: HP:0031417 (Ocasional (29-5%))
- **Necrose hepática** — HPO: HP:0002605 (Raro (<5%))
- **Sopro cardíaco** — HPO: HP:0030148 (Ocasional (29-5%))
- **Placa eritematosa** — HPO: HP:0025474 (Frequente (79-30%))
- **Tumor carcinoide** — HPO: HP:0100570
- **Diarreia prolongada** — HPO: HP:0004385 (Frequente (79-30%))
- **Palpitações** — HPO: HP:0001962 (Ocasional (29-5%))
- **Regurgitação tricúspide** — HPO: HP:0005180 (Ocasional (29-5%))
- **Insuficiência ventricular direita** — HPO: HP:0001708 (Ocasional (29-5%))
- **Nível anormal de peptídeo natriurético tipo B** — HPO: HP:0031138 (Ocasional (29-5%))
- **Concentração elevada de transaminase hepática circulante** — HPO: HP:0002910 (Ocasional (29-5%))
- **Asma** — HPO: HP:0002099 (Ocasional (29-5%))
- **Dor abdominal episódica** — HPO: HP:0002574 (Frequente (79-30%))
- **Carcinoide do intestino delgado** — HPO: HP:0006722 (Frequente (79-30%))
- **Epífora** — HPO: HP:0009926 (Ocasional (29-5%))
- **Paraganglioma** — HPO: HP:0002668 (Raro (<5%))
- **Carcinoide intestinal** — HPO: HP:0006723 (Frequente (79-30%))
- **Náusea e vômito** — HPO: HP:0002017 (Ocasional (29-5%))
- **Telangiectasia facial** — HPO: HP:0007380 (Ocasional (29-5%))
- **Suores noturnos** — HPO: HP:0030166 (Frequente (79-30%))
- **Linfadenopatia crônica não infecciosa** — HPO: HP:0002730 (Ocasional (29-5%))
- **Broncoconstrição** — HPO: HP:4000007 (Ocasional (29-5%))
- **Miopatia** — HPO: HP:0003198 (Raro (<5%))

## Genes associados (1)

- **SDHD** — Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial [Candidate gene tested in]
  - Função: Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to

## Ensaios clínicos ativos (5)

- **NCT07087054** [RECRUITING]: Carcinoid Syndrome Efficacy Study Featuring an Oral Daily Paltusotine Regimen — https://clinicaltrials.gov/study/NCT07087054
- **NCT05756608** [RECRUITING]: Fibrosis in Chronic and Delayed Myocardial Infarction — https://clinicaltrials.gov/study/NCT05756608
- **NCT04993261** [ACTIVE_NOT_RECRUITING]: An Investigational Scan (Dual Energy CT) in Detecting Gastrointestinal Carcinoid Tumors — https://clinicaltrials.gov/study/NCT04993261
- **NCT05064514** [ACTIVE_NOT_RECRUITING]: Investigation of a Transcatheter Tricuspid Valved Stent Graft in Patients With Carcinoid Heart Disease — https://clinicaltrials.gov/study/NCT05064514
- **NCT07450287** [NOT_YET_RECRUITING]: CardioNETPOL National Registry of Carcinoid Heart Disease — https://clinicaltrials.gov/study/NCT07450287
- **NCT05361668** [COMPLETED]: Study to Evaluate the Safety, PK, and Dose Response of Paltusotine in Subjects With Carcinoid Syndrome — https://clinicaltrials.gov/study/NCT05361668
- **NCT03453489** [COMPLETED]: AMT-PET in Monitoring Telotristat Etiprate Treatment in Participants With MetastaticNeuroendocrine Neoplasm — https://clinicaltrials.gov/study/NCT03453489
- **NCT03223428** [COMPLETED]: Real-world Evidence Study EvaLuating PAtient-Reported Outcomes With XERMELO — https://clinicaltrials.gov/study/NCT03223428
- **NCT04713202** [WITHDRAWN]: Prospective Assessment of Patients With Neuroendocrine Tumors and Current or Prior History of Carcinoid Syndrome or Diarrhea Undergoing Peptide Receptor Radionuclide Therapy With or Without Telotristat Ethyl — https://clinicaltrials.gov/study/NCT04713202
- **NCT03722511** [COMPLETED]: Evaluating an Amino Acid Based Medical Food w/ Diarrhea in Carcinoid Syndrome & Other NETs — https://clinicaltrials.gov/study/NCT03722511

## Doenças relacionadas (por similaridade fenotípica)

- [Tumor endócrino enteropancreático](https://raras.org/doenca/tumor-endocrino-enteropancreatico) — ORPHA:100092 — 21 sintomas em comum
- [Tumor endócrino do cólon](https://raras.org/doenca/tumor-endocrino-do-colon) — ORPHA:100080 — 17 sintomas em comum
- [Tumor endócrino gástrico](https://raras.org/doenca/tumor-endocrino-gastrico) — ORPHA:100075 — 15 sintomas em comum
- [NÃO RARA NA EUROPA: Câncer colorretal](https://raras.org/doenca/nao-rara-na-europa-cancer-colorretal) — ORPHA:466667 — 13 sintomas em comum
- [Carcinoma do fígado e trato biliar intra-hepático](https://raras.org/doenca/424936) — ORPHA:424936 — 13 sintomas em comum
- [Tumor endócrino retal](https://raras.org/doenca/tumor-endocrino-retal) — ORPHA:100081 — 12 sintomas em comum
- [Tumor epitelial do canal anal](https://raras.org/doenca/424010) — ORPHA:424010 — 12 sintomas em comum
- [Tumor endócrino anal](https://raras.org/doenca/tumor-endocrino-anal) — ORPHA:100082 — 12 sintomas em comum
- [Carcinoma do canal anal](https://raras.org/doenca/424013) — ORPHA:424013 — 12 sintomas em comum
- [Tumor endócrino hepático](https://raras.org/doenca/tumor-endocrino-hepatico) — ORPHA:100085 — 12 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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