questionsmedicales.fr
Malformations et maladies congénitales, héréditaires et néonatales
Maladies génétiques congénitales
Ciliopathies
Ciliopathies : Questions médicales fréquentes
Diagnostic
5
Ciliopathies
Diagnostic médical
Tests génétiques
Ciliopathies
Antécédents familiaux
Ciliopathies
Symptômes
5
Rétinopathie
Ciliopathies
Troubles neurologiques
Ciliopathies
Prévention
5
Dépistage prénatal
Ciliopathies
Tests génétiques
Ciliopathies
Traitements
5
Physiothérapie
Ciliopathies
Transplantation rénale
Ciliopathies
Thérapie génique
Ciliopathies
Complications
5
Complications
Ciliopathies
Complications
Ciliopathies
Gestion des complications
Ciliopathies
Qualité de vie
Ciliopathies
Facteurs de risque
5
Facteurs de risque
Ciliopathies
Consanguinité
Ciliopathies
Facteurs environnementaux
Ciliopathies
Mutations génétiques
Ciliopathies
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Ciliopathies : Questions médicales les plus fréquentes",
"headline": "Ciliopathies : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Ciliopathies : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-03-27",
"dateModified": "2026-03-17",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Ciliopathies"
},
"suggestedMinAge": 18,
"suggestedGender": "unisex"
},
{
"@type": "MedicalAudience",
"name": "Médecins",
"audienceType": "Physician",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "France"
}
},
{
"@type": "MedicalAudience",
"name": "Chercheurs",
"audienceType": "Researcher",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "International"
}
}
],
"reviewedBy": {
"@type": "Person",
"name": "Dr Olivier Menir",
"jobTitle": "Expert en Médecine",
"description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale",
"url": "/static/pages/docteur-olivier-menir.html",
"alumniOf": {
"@type": "EducationalOrganization",
"name": "Université Paris Descartes"
}
},
"isPartOf": {
"@type": "MedicalWebPage",
"name": "Maladies génétiques congénitales",
"url": "https://questionsmedicales.fr/mesh/D030342",
"about": {
"@type": "MedicalCondition",
"name": "Maladies génétiques congénitales",
"code": {
"@type": "MedicalCode",
"code": "D030342",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C16.320"
}
}
},
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Syndrome de Bardet-Biedl",
"alternateName": "Bardet-Biedl Syndrome",
"url": "https://questionsmedicales.fr/mesh/D020788",
"about": {
"@type": "MedicalCondition",
"name": "Syndrome de Bardet-Biedl",
"code": {
"@type": "MedicalCode",
"code": "D020788",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C16.320.184.125"
}
}
},
{
"@type": "MedicalWebPage",
"name": "Maladie de Caroli",
"alternateName": "Caroli Disease",
"url": "https://questionsmedicales.fr/mesh/D016767",
"about": {
"@type": "MedicalCondition",
"name": "Maladie de Caroli",
"code": {
"@type": "MedicalCode",
"code": "D016767",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C16.320.184.250"
}
}
},
{
"@type": "MedicalWebPage",
"name": "Troubles de la motilité ciliaire",
"alternateName": "Ciliary Motility Disorders",
"url": "https://questionsmedicales.fr/mesh/D002925",
"about": {
"@type": "MedicalCondition",
"name": "Troubles de la motilité ciliaire",
"code": {
"@type": "MedicalCode",
"code": "D002925",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C16.320.184.500"
}
}
},
{
"@type": "MedicalWebPage",
"name": "Polykystoses rénales",
"alternateName": "Polycystic Kidney Diseases",
"url": "https://questionsmedicales.fr/mesh/D007690",
"about": {
"@type": "MedicalCondition",
"name": "Polykystoses rénales",
"code": {
"@type": "MedicalCode",
"code": "D007690",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C16.320.184.625"
}
},
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Polykystose rénale autosomique dominante",
"alternateName": "Polycystic Kidney, Autosomal Dominant",
"url": "https://questionsmedicales.fr/mesh/D016891",
"about": {
"@type": "MedicalCondition",
"name": "Polykystose rénale autosomique dominante",
"code": {
"@type": "MedicalCode",
"code": "D016891",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C16.320.184.625.500"
}
}
},
{
"@type": "MedicalWebPage",
"name": "Polykystose rénale autosomique récessive",
"alternateName": "Polycystic Kidney, Autosomal Recessive",
"url": "https://questionsmedicales.fr/mesh/D017044",
"about": {
"@type": "MedicalCondition",
"name": "Polykystose rénale autosomique récessive",
"code": {
"@type": "MedicalCode",
"code": "D017044",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C16.320.184.625.510"
}
}
}
]
},
{
"@type": "MedicalWebPage",
"name": "Maladie de von Hippel-Lindau",
"alternateName": "von Hippel-Lindau Disease",
"url": "https://questionsmedicales.fr/mesh/D006623",
"about": {
"@type": "MedicalCondition",
"name": "Maladie de von Hippel-Lindau",
"code": {
"@type": "MedicalCode",
"code": "D006623",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C16.320.184.750"
}
}
}
],
"about": {
"@type": "MedicalCondition",
"name": "Ciliopathies",
"alternateName": "Ciliopathies",
"code": {
"@type": "MedicalCode",
"code": "D000072661",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "None None",
"url": "https://questionsmedicales.fr/author/None%20None",
"affiliation": {
"@type": "Organization",
"name": ""
}
},
{
"@type": "Person",
"name": "John A Sayer",
"url": "https://questionsmedicales.fr/author/John%20A%20Sayer",
"affiliation": {
"@type": "Organization",
"name": "Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK; Renal Services, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, NE4 5PL, UK. Electronic address: john.sayer@newcastle.ac.uk."
}
},
{
"@type": "Person",
"name": "Dan Doherty",
"url": "https://questionsmedicales.fr/author/Dan%20Doherty",
"affiliation": {
"@type": "Organization",
"name": "Department of Pediatrics, University of Washington, Seattle, Washington, USA; email: julievdw@uw.edu."
}
},
{
"@type": "Person",
"name": "Sophie Saunier",
"url": "https://questionsmedicales.fr/author/Sophie%20Saunier",
"affiliation": {
"@type": "Organization",
"name": "Laboratory of Hereditary Kidney Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163, Paris, France. Electronic address: sophie.saunier@inserm.fr."
}
},
{
"@type": "Person",
"name": "Heymut Omran",
"url": "https://questionsmedicales.fr/author/Heymut%20Omran",
"affiliation": {
"@type": "Organization",
"name": "Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany. Heymut.Omran@ukmuenster.de."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.",
"datePublished": "2023-05-23",
"url": "https://questionsmedicales.fr/article/37230223",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.kint.2023.05.007"
}
},
{
"@type": "ScholarlyArticle",
"name": "Syndromic ciliopathy: a taiwanese single-center study.",
"datePublished": "2024-04-26",
"url": "https://questionsmedicales.fr/article/38671463",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1186/s12920-024-01880-0"
}
},
{
"@type": "ScholarlyArticle",
"name": "Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond.",
"datePublished": "2023-07-19",
"url": "https://questionsmedicales.fr/article/37466224",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.7554/eLife.87623"
}
},
{
"@type": "ScholarlyArticle",
"name": "Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models.",
"datePublished": "2023-06-07",
"url": "https://questionsmedicales.fr/article/37371046",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3390/cells12121575"
}
},
{
"@type": "ScholarlyArticle",
"name": "Patient stem cell-derived in vitro disease models for developing novel therapies of retinal ciliopathies.",
"datePublished": "2023-11-04",
"url": "https://questionsmedicales.fr/article/38043950",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/bs.ctdb.2023.09.003"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Malformations et maladies congénitales, héréditaires et néonatales",
"item": "https://questionsmedicales.fr/mesh/D009358"
},
{
"@type": "ListItem",
"position": 3,
"name": "Maladies génétiques congénitales",
"item": "https://questionsmedicales.fr/mesh/D030342"
},
{
"@type": "ListItem",
"position": 4,
"name": "Ciliopathies",
"item": "https://questionsmedicales.fr/mesh/D000072661"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Ciliopathies - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Ciliopathies",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2026-05-15",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Ciliopathies",
"description": "Comment diagnostique-t-on une ciliopathie ?\nQuels tests génétiques sont utilisés ?\nLes échographies sont-elles utiles ?\nQuels spécialistes consultent pour un diagnostic ?\nLes antécédents familiaux sont-ils importants ?",
"url": "https://questionsmedicales.fr/mesh/D000072661#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Ciliopathies",
"description": "Quels sont les symptômes courants des ciliopathies ?\nLes ciliopathies affectent-elles la vision ?\nY a-t-il des symptômes neurologiques ?\nLes symptômes varient-ils selon l'âge ?\nLes symptômes sont-ils toujours présents ?",
"url": "https://questionsmedicales.fr/mesh/D000072661#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Ciliopathies",
"description": "Peut-on prévenir les ciliopathies ?\nLe dépistage prénatal est-il possible ?\nLes tests génétiques sont-ils recommandés ?\nLes vaccinations aident-elles à prévenir les complications ?\nLe mode de vie influence-t-il le risque ?",
"url": "https://questionsmedicales.fr/mesh/D000072661#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Ciliopathies",
"description": "Quels traitements existent pour les ciliopathies ?\nLa physiothérapie est-elle recommandée ?\nY a-t-il des traitements spécifiques pour les reins ?\nLes traitements sont-ils curatifs ?\nDes thérapies géniques sont-elles en développement ?",
"url": "https://questionsmedicales.fr/mesh/D000072661#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Ciliopathies",
"description": "Quelles complications peuvent survenir ?\nLes complications sont-elles graves ?\nLes complications sont-elles évitables ?\nLes complications affectent-elles la qualité de vie ?\nY a-t-il des risques de cancer associés ?",
"url": "https://questionsmedicales.fr/mesh/D000072661#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Ciliopathies",
"description": "Quels sont les facteurs de risque des ciliopathies ?\nLes consanguinités augmentent-elles le risque ?\nLes femmes sont-elles plus à risque ?\nLes facteurs environnementaux jouent-ils un rôle ?\nLes mutations génétiques sont-elles héréditaires ?",
"url": "https://questionsmedicales.fr/mesh/D000072661#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment diagnostique-t-on une ciliopathie ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur l'examen clinique, l'imagerie et des tests génétiques."
}
},
{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests de séquençage de l'ADN et des analyses de microdélétion sont courants."
}
},
{
"@type": "Question",
"name": "Les échographies sont-elles utiles ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les échographies peuvent détecter des malformations associées aux ciliopathies."
}
},
{
"@type": "Question",
"name": "Quels spécialistes consultent pour un diagnostic ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Généticiens, néphrologues et pédiatres sont souvent impliqués dans le diagnostic."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux sont-ils importants ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les antécédents familiaux aident à évaluer le risque de transmission génétique."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes courants des ciliopathies ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des problèmes rénaux, des malformations congénitales et des troubles respiratoires."
}
},
{
"@type": "Question",
"name": "Les ciliopathies affectent-elles la vision ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines ciliopathies peuvent entraîner des problèmes de vision, comme la rétinopathie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes neurologiques ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines ciliopathies peuvent provoquer des troubles neurologiques, comme des retards de développement."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent apparaître à différents âges, selon le type de ciliopathie."
}
},
{
"@type": "Question",
"name": "Les symptômes sont-ils toujours présents ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, certains symptômes peuvent être intermittents ou se développer progressivement."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les ciliopathies ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, mais le conseil génétique peut aider les familles à risque."
}
},
{
"@type": "Question",
"name": "Le dépistage prénatal est-il possible ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage prénatal peut identifier certaines ciliopathies génétiques."
}
},
{
"@type": "Question",
"name": "Les tests génétiques sont-ils recommandés ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent être recommandés pour les familles avec antécédents."
}
},
{
"@type": "Question",
"name": "Les vaccinations aident-elles à prévenir les complications ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les vaccinations peuvent prévenir certaines infections, mais pas les ciliopathies elles-mêmes."
}
},
{
"@type": "Question",
"name": "Le mode de vie influence-t-il le risque ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le mode de vie n'influence pas directement le risque de ciliopathies, car elles sont génétiques."
}
},
{
"@type": "Question",
"name": "Quels traitements existent pour les ciliopathies ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement est symptomatique et peut inclure des médicaments, la dialyse ou la transplantation."
}
},
{
"@type": "Question",
"name": "La physiothérapie est-elle recommandée ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la physiothérapie peut aider à améliorer la mobilité et la qualité de vie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements spécifiques pour les reins ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des traitements comme la dialyse ou la transplantation rénale peuvent être nécessaires."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils curatifs ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les traitements visent à gérer les symptômes, car il n'existe pas de cure."
}
},
{
"@type": "Question",
"name": "Des thérapies géniques sont-elles en développement ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des recherches sur les thérapies géniques pour les ciliopathies sont en cours."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent l'insuffisance rénale, des problèmes respiratoires et des malformations."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles graves ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines complications peuvent être graves et nécessiter des soins médicaux intensifs."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles évitables ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais pas toutes sont évitables."
}
},
{
"@type": "Question",
"name": "Les complications affectent-elles la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent significativement affecter la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de cancer associés ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines ciliopathies peuvent augmenter le risque de cancers, notamment rénaux."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque des ciliopathies ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux et certaines mutations génétiques."
}
},
{
"@type": "Question",
"name": "Les consanguinités augmentent-elles le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la consanguinité augmente le risque de transmission de ciliopathies génétiques."
}
},
{
"@type": "Question",
"name": "Les femmes sont-elles plus à risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les ciliopathies touchent les sexes de manière égale, mais certaines peuvent être liées à des gènes spécifiques."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs environnementaux n'ont pas de lien direct avec l'apparition des ciliopathies."
}
},
{
"@type": "Question",
"name": "Les mutations génétiques sont-elles héréditaires ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, de nombreuses ciliopathies sont causées par des mutations héréditaires transmissibles."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 17/03/2026
Contenu vérifié selon les dernières recommandations médicales
6 publications dans cette catégorie
Publications dans "Ciliopathies" :
4 publications dans cette catégorie
Affiliations :
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK; Renal Services, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE7 7DN, UK; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, NE4 5PL, UK. Electronic address: john.sayer@newcastle.ac.uk.
Publications dans "Ciliopathies" :
4 publications dans cette catégorie
Affiliations :
Department of Pediatrics, University of Washington, Seattle, Washington, USA; email: julievdw@uw.edu.
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA; email: ddoher@uw.edu.
Publications dans "Ciliopathies" :
4 publications dans cette catégorie
Affiliations :
Laboratory of Hereditary Kidney Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163, Paris, France. Electronic address: sophie.saunier@inserm.fr.
Publications dans "Ciliopathies" :
3 publications dans cette catégorie
Affiliations :
Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany. Heymut.Omran@ukmuenster.de.
Publications dans "Ciliopathies" :
3 publications dans cette catégorie
Affiliations :
Faculty of Medicine, University of Southampton, Human Development and Health, United Kingdom of Great Britain and Northern Ireland; University Hospital Southampton NHS Foundation Trust, United Kingdom of Great Britain and Northern Ireland.
Publications dans "Ciliopathies" :
3 publications dans cette catégorie
Affiliations :
Laboratory of Hereditary Kidney Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163, Paris, France.
Publications dans "Ciliopathies" :
2 publications dans cette catégorie
Affiliations :
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.
Publications dans "Ciliopathies" :
2 publications dans cette catégorie
Affiliations :
Sorbonne Université, Centre National de la Recherche Scientifique (CNRS) UMR7622, Institut national pour la Santé et la Recherche Médicale U1156, Institut de Biologie Paris Seine-Laboratoire de Biologie du Développement (IBPS-LBD), 75005 Paris, France.
Publications dans "Ciliopathies" :
2 publications dans cette catégorie
Affiliations :
Sorbonne Université, Centre National de la Recherche Scientifique (CNRS) UMR7622, Institut national pour la Santé et la Recherche Médicale U1156, Institut de Biologie Paris Seine-Laboratoire de Biologie du Développement (IBPS-LBD), 75005 Paris, France.
Publications dans "Ciliopathies" :
2 publications dans cette catégorie
Affiliations :
Sorbonne Université, Centre National de la Recherche Scientifique (CNRS) UMR7622, Institut national pour la Santé et la Recherche Médicale U1156, Institut de Biologie Paris Seine-Laboratoire de Biologie du Développement (IBPS-LBD), 75005 Paris, France sylvie.schneider-maunoury@upmc.fr.
Publications dans "Ciliopathies" :
2 publications dans cette catégorie
Affiliations :
Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.
Publications dans "Ciliopathies" :
2 publications dans cette catégorie
Affiliations :
Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
School of Clinical and Experimental Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.
Publications dans "Ciliopathies" :
2 publications dans cette catégorie
Affiliations :
Department of Pathology and Laboratory Medicine, Marsico Lung Institute, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Publications dans "Ciliopathies" :
2 publications dans cette catégorie
Affiliations :
Division of Gastroenterology, Hepatology and Nutrition Children's Hospital of Philadelphia Philadelphia PA.
Department of Pediatrics Perelman School of Medicine University of Pennsylvania Philadelphia PA.
Publications dans "Ciliopathies" :
2 publications dans cette catégorie
Affiliations :
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Publications dans "Ciliopathies" :
2 publications dans cette catégorie
Affiliations :
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.
Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.
Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.
Publications dans "Ciliopathies" :
2 publications dans cette catégorie
Affiliations :
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle Upon Tyne NE1 3BZ, U.K.
Publications dans "Ciliopathies" :
2 publications dans cette catégorie
Affiliations :
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle Upon Tyne NE1 3BZ, U.K.
Publications dans "Ciliopathies" :
2 publications dans cette catégorie
Affiliations :
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Publications dans "Ciliopathies" :
Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. App...
Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal di...
The aim of this study was to identify the genetic causes in patients with syndromic ciliopathy. Patients suspected of or meeting clinical diagnostic criteria for any type of syndromic ciliopathy were ...
A total of 14 cases were molecularly diagnosed with syndromic ciliopathy. Among these cases, 10 had Bardet-Biedl syndrome (BBS), comprising eight BBS2 patients and two BBS7 patients. Additionally, two...
Whole exome sequencing (WES) assists in identifying molecular pathogenic variants in ciliopathic patients, as well as the genetic hotspot mutations in specific populations. It should be considered as ...
The BBSome is an octameric protein complex that regulates ciliary transport and signaling. Mutations in BBSome subunits are closely associated with ciliary defects and lead to ciliopathies, notably Ba...
The photoreceptor outer segment is a highly specialized primary cilium that is essential for phototransduction and vision. Biallelic pathogenic variants in the cilia-associated gene...
Primary cilia are specialized organelles on the surface of almost all cells in vertebrate tissues and are primarily involved in the detection of extracellular stimuli. In retinal photoreceptors, cilia...
Here we present a patient with a cranioectodermal phenotype associated with pathogenic variants in the...
Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited cystic disease characterized by bilateral renal cyst formation and congenital liver fibrosis. Cardiovascular disorders such as...
A 5-month-old girl was examined after presenting with a fever and turbid urine for one day and was diagnosed as urinary tract infection. Urinary ultrasound showed multiple round, small cysts varying i...
This is the first report of NVM in a patient with ARPKD. It is unsure if the coexistence of NVM and ARPKD is a coincidence or they are different manifestations of ciliary dysfunction in the heart and ...
There are approximately 8,000 different rare diseases that affect roughly 400 million people worldwide. Many of them suffer from delayed diagnosis. Ciliopathies are rare monogenic disorders characteri...
Two datasets of ciliopathy cases, either proven or suspected, and two datasets of controls were used to evaluate the DSSs. Patient phenotypes were automatically extracted from their EHRs and converted...
A total of 79 cases and 38 controls were selected. Performances of the DSSs on ciliopathy real world data (best DSS with area under the ROC curve = 0.72) were not as good as published performances on ...
Our study provides insights into the complexities of diagnosing highly heterogenous rare diseases and offers lessons derived from evaluation existing DSSs in real-world settings. These insights are no...
Renal ciliopathies are a group of genetic disorders that affect the function of the primary cilium in the kidney, as well as other organs. Since primary cilia are important for regulation of cell sign...
Ciliopathies are a group of rare genetic disorders caused by defects to the structure or function of the primary cilium. They often affect multiple organs, leading to brain malformations, congenital h...