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🇫🇷 Fiche Orphanet officielle

Dyskinésie ciliaire primitive

ORPHA:244PathologieCIM-10 : Q34.8CIM-11 : LA75.YOMIM : 215518

Synonymes : DCP

Définition clinique

Maladie rare, génétiquement hétérogène, principalement respiratoire, caractérisée par une maladie chronique des voies respiratoires supérieures et inférieures. Environ la moitié des patients présentent une anomalie de latéralité des organes (situs inversus total ou situs ambiguus/hétérotaxie).

🩺 Symptômes & manifestations cliniques

47 phénotypes HPO annotés Orphanet

🟠 Fréquent (79-30%) — 13

  • Chronic otitis media
  • Recurrent otitis media
  • Nasal congestion
  • Chronic rhinitis
  • Neonatal respiratory distress
  • Male infertility
  • Recurrent sinopulmonary infections
  • Chronic sinusitis
  • Respiratory tract infection
  • Abnormal sperm motility
  • Productive cough
  • Abnormal sputum
  • Nasal polyposis
🟡 Occasionnel / autres (34) ↓
  • Abnormality of the genitourinary system(Occasionel (29-5%))
  • Hearing impairment(Occasionel (29-5%))
  • Conductive hearing impairment(Occasionel (29-5%))
  • Delayed speech and language development(Occasionel (29-5%))
  • Abnormality of the skeletal system(Occasionel (29-5%))
  • Clubbing(Occasionel (29-5%))
  • Abnormal heart morphology(Occasionel (29-5%))
  • Situs inversus totalis(Occasionel (29-5%))
  • Morphological central nervous system abnormality(Occasionel (29-5%))
  • Bronchiectasis(Occasionel (29-5%))
  • Airway obstruction(Occasionel (29-5%))
  • Female infertility(Occasionel (29-5%))
  • Recurrent mycobacterial infections(Occasionel (29-5%))
  • Pulmonary situs ambiguus(Occasionel (29-5%))
  • Peribronchovascular interstitial thickening(Occasionel (29-5%))
  • Abnormal cardiovascular system morphology(Occasionel (29-5%))
  • Wheezing(Occasionel (29-5%))
  • Ectopic pregnancy(Occasionel (29-5%))
  • Lithoptysis(Occasionel (29-5%))
  • Atelectasis(Occasionel (29-5%))
  • Hydrocephalus(Très rare (4-1%))
  • Rod-cone dystrophy(Très rare (4-1%))
  • Transposition of the great arteries(Très rare (4-1%))
  • Double outlet right ventricle(Très rare (4-1%))
  • Asplenia(Très rare (4-1%))
  • Polysplenia(Très rare (4-1%))
  • Ventriculomegaly(Très rare (4-1%))
  • Intestinal malrotation(Très rare (4-1%))
  • Respiratory failure(Très rare (4-1%))
  • Persistent left superior vena cava(Très rare (4-1%))
  • Anomalous pulmonary venous return(Très rare (4-1%))
  • Abnormal atrial arrangement(Très rare (4-1%))
  • Atrial situs ambiguous(Très rare (4-1%))
  • Abnormal inferior vena cava morphology(Très rare (4-1%))

🔀 Diagnostic différentiel

Maladies rares qui partagent le plus de phénotypes discriminants avec Dyskinésie ciliaire primitive. Calcul automatique sur les annotations HPO/Orphanet — à confronter au tableau clinique réel.

🔬 Examens & investigations

📋 PNDS — recommandations officielles françaises

Le Protocole National de Diagnostic et Soins est le référentiel HAS pour la prise en charge d'une maladie rare en France. Environ 300 maladies en disposent (plus rare que la maladie elle-même → plus de chances qu'il n'existe pas).

🏥 Centres experts

Liste Orphanet officielle des centres experts pour cette maladie spécifique (CRMR / CCMR) — coordonnées et coordinateurs.

📍 Trouver un spécialiste près de chez vous

Entrez votre ville ou code postal pour filtrer l'annuaire MonRhumato et localiser les centres experts les plus proches.

🔍 Annuaire MonRhumato →🗺️ Google Maps ↗

🧬 Gènes associés & variants

  • RPGRXp11.4

    ClinVar : 2462 variants

    Disease-causing germline mutation(s) inAssessed

  • DNAH117p15.3

    Disease-causing germline mutation(s) inAssessed

  • DNAH55p15.2

    Disease-causing germline mutation(s) inAssessed

  • DNAI19p13.3

    Disease-causing germline mutation(s) inAssessed

  • OFD1Xp22.2

    Disease-causing germline mutation(s) inAssessed

  • NME87p14.1

    Disease-causing germline mutation(s) inAssessed

  • DNAI217q25.1

    Disease-causing germline mutation(s) inAssessed

  • DNAAF214q21.3

    Disease-causing germline mutation(s) inAssessed

  • RSPH96p21.1

    Disease-causing germline mutation(s) inAssessed

  • RSPH4A6q22.1

    Disease-causing germline mutation(s) inAssessed

  • DNAAF116q24.1

    Disease-causing germline mutation(s) inAssessed

  • CCDC393q26.33

    Disease-causing germline mutation(s) inAssessed

  • CCDC4017q25.3

    Disease-causing germline mutation(s) inAssessed

  • DNAL114q24.3

    Disease-causing germline mutation(s) inAssessed

  • DNAAF319q13.42

    Disease-causing germline mutation(s) inAssessed

  • DNAAF1917q21.31

    Disease-causing germline mutation(s) inAssessed

  • DNAAF57p22.3

    Disease-causing germline mutation(s) inAssessed

  • HYDIN16q22.2

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • DNAAF118q24.22

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • ODAD119q13.33

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • DRC12p23.3

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • ODAD210p12.1

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • DNAAF415q21.3

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • RSPH121q22.3

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • ZMYND103p21.31

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • CFAP29821q22.11

    Disease-causing germline mutation(s) inAssessed

  • DRC212q13.12

    Disease-causing germline mutation(s) inAssessed

  • SPAG18q22.2

    Disease-causing germline mutation(s) inAssessed

  • CCNO5q11.2

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • DNAH13p21.1

    Disease-causing germline mutation(s) inAssessed

  • ODAD319p13.2

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • RSPH36q25.3

    Disease-causing germline mutation(s) inAssessed

  • DRC416q24.3

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • DNAJB1311q13.4

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • ODAD417q21.2

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • MCIDAS5q11.2

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • DNAAF6Xq22.3

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • STK362q35

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • FOXJ117q25.1

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • CFAP30011q22.1

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • LRRC5611p15.5

    Disease-causing germline mutation(s) inAssessed

  • DNAH917p12

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • GAS2L217q12

    Disease-causing germline mutation(s) inAssessed

  • CFAP2212q14.2

    Disease-causing germline mutation(s) inAssessed

  • SPEF25p13.2

    Disease-causing germline mutation(s) inAssessed

  • TTC1211q23.2

    Disease-causing germline mutation(s) (loss of function) inAssessed

  • NEK103p24.1

    Disease-causing germline mutation(s) inAssessed

  • NME55q31.2

    Disease-causing germline mutation(s) inAssessed

  • CFAP741p36.33

    Disease-causing germline mutation(s) inAssessed

  • DNAH72q32.3

    Disease-causing germline mutation(s) inAssessed

  • BRWD121q22.2

    Disease-causing germline mutation(s) inAssessed

  • DAW12q36.3

    Disease-causing germline mutation(s) inAssessed

  • CLXN8q11.21

    Disease-causing germline mutation(s) inAssessed

Codifications validées (61) ↓
  • GARD:4484
  • ICD-10:Q34.8
  • ICD-11:LA75.Y
  • MONDO:0016575
  • MedDRA:10069713
  • OMIM:215518
  • OMIM:215520
  • OMIM:242670
  • OMIM:242680
  • OMIM:244400
  • OMIM:300991
  • OMIM:606763
  • OMIM:608644
  • OMIM:608646
  • OMIM:608647
  • OMIM:610852
  • OMIM:611884
  • OMIM:612274
  • OMIM:612444
  • OMIM:612518
  • OMIM:612649
  • OMIM:612650
  • OMIM:613193
  • OMIM:613807
  • OMIM:613808
  • OMIM:614017
  • OMIM:614679
  • OMIM:614874
  • OMIM:614935
  • OMIM:615067
  • OMIM:615294
  • OMIM:615444
  • OMIM:615451
  • OMIM:615481
  • OMIM:615482
  • OMIM:615500
  • OMIM:615504
  • OMIM:615505
  • OMIM:615872
  • OMIM:616037
  • OMIM:616481
  • OMIM:616726
  • OMIM:617091
  • OMIM:617092
  • OMIM:617577
  • OMIM:618063
  • OMIM:618254
  • OMIM:618300
  • OMIM:618449
  • OMIM:618695
  • OMIM:618699
  • OMIM:618781
  • OMIM:618801
  • OMIM:619436
  • OMIM:620032
  • OMIM:620197
  • OMIM:620356
  • OMIM:620438
  • OMIM:620570
  • OMIM:620642
  • UMLS:C4551720

Pour aller plus loin (sources publiques)

📚 PubMed récent🔍 Rhumatologues

Toutes les données médicales : Orphadata (Orphanet, INSERM US14, CC-BY-4.0). Variants : ClinVar (NCBI). Phénotypes : HPO (Jackson Lab). Fiche purement sourcée — aucune donnée hardcodée.