A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for ciliopathy is limited primarily due to its rarity and the complexity of its clinical features. Ciliopathies encompass a broad range of symptoms that can vary significantly between individuals, making systematic clinical studies challenging. Additionally, the genetic basis was only recently identified, and ongoing research is needed to better characterize the condition.
To navigate your care effectively, consider seeking a specialist in genetics or a genetic counselor who can provide insights into the implications of the identified genes (NPHP1, PIK3C2A, ALMS1, PIEZO2). Genetic counseling can help you understand potential risks for family members and guide you in making informed decisions. Additionally, explore opportunities to participate in clinical trials, which can be found at ClinicalTrials.gov. For further support, consider resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov.
There are currently 118 active clinical trials related to ciliopathy, indicating a significant interest in understanding and treating this condition. While there are no orphan drug designations at this time, participation in clinical trials may provide access to new therapies and contribute to the overall understanding of ciliopathy. For more details on ongoing trials, you can search at ClinicalTrials.gov using this link: https://clinicaltrials.gov/search?cond=ciliopathy.
Actionable guidance for navigating care for ciliopathy
To navigate your care effectively, consider seeking a specialist in genetics or a genetic counselor who can provide insights into the implications of the identified genes (NPHP1, PIK3C2A, ALMS1, PIEZO2). Genetic counseling can help you understand potential risks for family members and guide you in making informed decisions. Additionally, explore opportunities to participate in clinical trials, which can be found at ClinicalTrials.gov. For further support, consider resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.