# Discinesia ciliar primária

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

## Identificadores

- **ORPHA**: 244 — https://www.orpha.net/en/disease/detail/244
- **CID-10**: Q34.8
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

A discinesia ciliar primária (PCD) é uma doença respiratória rara caracterizada por broncorreia crónica com bronquiectasias e sinusite crónica.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Autosomal dominant, Autosomal recessive, X-linked recessive

## Sinais e sintomas (181 fenótipos HPO)

- **Infecção do trato respiratório** — HPO: HP:0011947 (Frequente (79-30%))
- **Espessamento da parede brônquica** — HPO: HP:0033542
- **Átrio comum** — HPO: HP:0011565
- **Quarto ventrículo dilatado** — HPO: HP:0002198
- **Defeito do septo ventricular perimembranoso** — HPO: HP:0011682
- **Agenesia do ducto venoso** — HPO: HP:0034196
- **Baço hipoplásico** — HPO: HP:0006270
- **Cardiomegalia** — HPO: HP:0001640
- **Dorso nasal proeminente** — HPO: HP:0000426
- **Hipoplasia do nervo óptico** — HPO: HP:0000609
- **Hipoplasia cerebelar** — HPO: HP:0001321
- **Hipoplasia do vermis cerebelar** — HPO: HP:0001320
- **Flagelos de espermatozoides enrolados** — HPO: HP:0032560
- **Doença pulmonar crônica** — HPO: HP:0006528
- **Refluxo gastroesofágico** — HPO: HP:0002020
- **Oligozoospermia** — HPO: HP:0000798
- **Motilidade espermática progressiva reduzida** — HPO: HP:0034011
- **Cauda de espermatozoide com formato irregular** — HPO: HP:0033393
- **Estenose da artéria pulmonar** — HPO: HP:0004415
- **Razão FEV1/FVC reduzida** — HPO: HP:0030877
- **Hipotireoidismo** — HPO: HP:0000821
- **Bócio** — HPO: HP:0000853
- **Defeito ventilatório restritivo** — HPO: HP:0002091
- **Eletrólitos anormais no suor** — HPO: HP:0040128
- **Flagelos espermáticos ausentes** — HPO: HP:0032558
- **Capacidade vital forçada reduzida** — HPO: HP:0032341
- **Morfologia anormal do axonema do espermatozoide** — HPO: HP:0033524
- **Flagelos espermáticos curtos** — HPO: HP:0032559
- **Insuficiência pulmonar** — HPO: HP:0010444
- **Hidrocefalia comunicante** — HPO: HP:0001334
- **Anosmia** — HPO: HP:0000458
- **Ausência de seios frontais** — HPO: HP:0002688
- **Morfologia anormal da córnea** — HPO: HP:0000481
- **Cefaleia** — HPO: HP:0002315
- **Braços externos de dineína ausentes/encurtados** — HPO: HP:0200109
- **Defeito do braço de dineína dos cílios móveis respiratórios** — HPO: HP:0012255
- **Pneumonia** — HPO: HP:0002090
- **Bronquite recorrente** — HPO: HP:0002837
- **Boca larga** — HPO: HP:0000154
- **Catarata** — HPO: HP:0000518
- _...e mais 141 sintomas. Ver https://raras.org/doenca/discinesia-ciliar-primaria._

## Genes associados (56)

- **DNAAF3** — Dynein axonemal assembly factor 3 [Disease-causing germline mutation(s) in]
  - Função: Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia
- **TP73** — Tumor protein p73 [Disease-causing germline mutation(s) in]
  - Função: Participates in the apoptotic response to DNA damage. Isoforms containing the transactivation domain are pro-apoptotic, isoforms lacking the domain are anti-apoptotic and block the function of p53 and
- **CFAP54** — Cilia- and flagella-associated protein 54 [Disease-causing germline mutation(s) in]
  - Função: Required for assembly and function of cilia and flagella
- **CENPF** — Centromere protein F [Disease-causing germline mutation(s) in]
  - Função: Required for kinetochore function and chromosome segregation in mitosis. Required for kinetochore localization of dynein, LIS1, NDE1 and NDEL1. Regulates recycling of the plasma membrane by acting as
- **CCDC40** — Coiled-coil domain-containing protein 40 [Disease-causing germline mutation(s) in]
  - Função: Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia an
- **DNAJB13** — DnaJ homolog subfamily B member 13 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia
- **CCNO** — Cyclin-O [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Specifically required for generation of multiciliated cells, possibly by promoting a cell cycle state compatible with centriole amplification and maturation. Acts downstream of MCIDAS to promote mothe
- **NEK10** — Serine/threonine-protein kinase Nek10 [Disease-causing germline mutation(s) in]
  - Função: Plays a role in the cellular response to UV irradiation. Mediates G2/M cell cycle arrest, MEK autoactivation and ERK1/2-signaling pathway activation in response to UV irradiation. In ciliated cells of
- **ODAD3** — Outer dynein arm-docking complex subunit 3 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule (PubMed:25192045). Involved in mediating assembly of both ODAs and
- **RSPH3** — Radial spoke head protein 3 homolog [Disease-causing germline mutation(s) in]
  - Função: Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia (By similarity). Functions as a protein kinase A-anchoring protein that scaffolds th
- **CCDC39** — Coiled-coil domain-containing protein 39 [Disease-causing germline mutation(s) in]
  - Função: Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia an
- **GAS2L2** — GAS2-like protein 2 [Disease-causing germline mutation(s) in]
  - Função: Involved in the cross-linking of microtubules and microfilaments (PubMed:12584248, PubMed:24706950). Regulates microtubule dynamics and stability by interacting with microtubule plus-end tracking prot
- **ZMYND10** — Zinc finger MYND domain-containing protein 10 [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Plays a role in axonemal structure organization and motility (PubMed:23891469, PubMed:23891471). Involved in axonemal pre-assembly of inner and outer dynein arms (IDA and ODA, respectively) for proper
- **HYDIN** — Hydrocephalus-inducing protein homolog [Disease-causing germline mutation(s) (loss of function) in]
  - Função: Required for ciliary motility
- **DNAL1** — Dynein axonemal light chain 1 [Disease-causing germline mutation(s) in]
  - Função: Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency (By similarity). Component of the outer arm dynein (ODA). May be involved in a m

## Medicamentos em desenvolvimento (3)

- IVACAFTOR — Fase Phase 2 (Cystic fibrosis transmembrane conductance regulator positive modulator)
- IDREVLORIDE — Fase Phase 2 (Amiloride-sensitive sodium channel, ENaC blocker)
- ALBUTEROL — Fase Phase 0.5 (Beta-2 adrenergic receptor agonist)
- Fonte: https://platform.opentargets.org/disease/MONDO_0016575

## Ensaios clínicos ativos (22)

- **NCT07274631** [RECRUITING]: A Cohort for Inflammatory Respiratory Diseases: From Phenotyping to Personalised Medicine — https://clinicaltrials.gov/study/NCT07274631
- **NCT05951478** [RECRUITING]: DCP (RaDiCo Cohort) (RaDiCo-DCP) — https://clinicaltrials.gov/study/NCT05951478
- **NCT07357558** [RECRUITING]: A Qualitative Study Investigating the Lived Experiences and Impact of Reproductive Issues in Adults With Primary Ciliary Dyskinesia — https://clinicaltrials.gov/study/NCT07357558
- **NCT07288827** [RECRUITING]: Examining Bronchial Hyperresponsiveness in Primary Ciliary Dyskinesia — https://clinicaltrials.gov/study/NCT07288827
- **NCT04602481** [RECRUITING]: Living With Primary Ciliary Dyskinesia (Living With PCD) — https://clinicaltrials.gov/study/NCT04602481
- **NCT04611516** [RECRUITING]: The Ear-Nose-Throat (ENT) Prospective International Cohort of PCD Patients (EPIC-PCD) — https://clinicaltrials.gov/study/NCT04611516
- **NCT06959251** [RECRUITING]: Glycine and Magnesium+Thiamine for the Treatment of Primary Ciliary Dyskinesia — https://clinicaltrials.gov/study/NCT06959251
- **NCT03606200** [RECRUITING]: Swiss Primary Ciliary Dyskinesia Registry — https://clinicaltrials.gov/study/NCT03606200
- **NCT05889013** [RECRUITING]: Utility of PCD Diagnostics to Improve Clinical Care — https://clinicaltrials.gov/study/NCT05889013
- **NCT03704207** [RECRUITING]: Utility of PCD Diagnostics to Improve Clinical Care — https://clinicaltrials.gov/study/NCT03704207

## Doenças relacionadas (por similaridade fenotípica)

- [Heterotaxia](https://raras.org/doenca/450) — ORPHA:450 — 54 sintomas em comum
- [Situs ambiguus](https://raras.org/doenca/situs-ambiguus) — ORPHA:157769 — 54 sintomas em comum
- [Anomalia do retorno venoso](https://raras.org/doenca/anomalia-do-retorno-venoso) — ORPHA:98729 — 38 sintomas em comum
- [Síndrome de malformação fetal cerebral fatal – atresia duodenal – hipoplasia renal bilateral](https://raras.org/doenca/sindrome-de-malformacao-fetal-cerebral-fatal-atresia-duodenal-hipoplasia-renal-bilateral) — ORPHA:444069 — 30 sintomas em comum
- [Síndrome Stromme](https://raras.org/doenca/506307) — ORPHA:506307 — 30 sintomas em comum
- [Anomalia dos grandes vasos (aorta, arco aórtico, artérias pulmonares), congênita](https://raras.org/doenca/anomalia-dos-grandes-vasos-aorta-arco-aortico-arterias-pulmonares-congenita) — ORPHA:98724 — 29 sintomas em comum
- [Síndrome Meckel](https://raras.org/doenca/sindrome-meckel) — ORPHA:564 — 28 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 28 sintomas em comum
- [Síndrome aneuploidia variada em mosaico](https://raras.org/doenca/sindrome-aneuploidia-variada-em-mosaico) — ORPHA:1052 — 27 sintomas em comum
- [Síndrome 3C](https://raras.org/doenca/sindrome-3c) — ORPHA:7 — 27 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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