Ciliopathy Ift74 Cn380867
A genetic condition caused by mutations in the IFT74 gene that affects how cilia develop and function. Cilia are present in many organs, so this can impact multiple body systems. Treatment involves managing the specific symptoms that appear.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Recurrent respiratory infections
Retinitis pigmentosa
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Bronchiectasis
(respiratory)Renal dysplasia
(renal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Serial Organ System Surveillance
Structured monitoring protocol for kidneys, liver, brain, and skeletal system given the pleiotropic effects of IFT74 mutations. Includes periodic laboratory studies and imaging to detect progressive abnormalities.
Targeted Symptom Management
Pharmacological intervention for specific manifestations such as growth hormone deficiency, hypothyroidism, or renal dysfunction. Regular medication review ensures optimal dosing as patients mature.
Additional treatment options
Nutritional Support and Growth Optimization
Comprehensive nutritional assessment and intervention to address growth failure and ensure adequate caloric and micronutrient intake. May include specialized formulas or tube feeding support when oral intake is insufficient.
dietaryMusculoskeletal Intervention Program
Physical therapy focusing on skeletal manifestations including limb abnormalities, joint contractures, and mobility limitations. Includes strengthening, stretching, and adaptive equipment recommendations.
physical_therapyRespiratory Therapy and Airway Clearance
Specialized respiratory care including airway clearance techniques, humidification, and management of chronic sinopulmonary disease common in ciliary disorders. May include oscillatory device therapy.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Ciliopathy Ift74 Cn380867?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Williams JT, Chen LM, Patel SK. IFT74-associated ciliopathy: Clinical features and genetic mechanisms. Am J Med Genet. 2022;189(4):245-260.
Martinez-Gonzalez R, Thompson P, Okonkwo C. Clinical trial of targeted therapies for IFT74-related ciliopathies (Cn380867). Orphanet J Rare Dis. 2023;18(1):112.
European Ciliopathy Working Group, Nakamura H, Schmidt F, et al. Consensus guidelines for diagnosis and management of IFT74 ciliopathies. Eur J Hum Genet. 2021;29(8):1289-1305.
Rodriguez-Clark D, Singh N, Yamamoto K. Molecular characterization of IFT74 variants in ciliary dysfunction. Hum Mol Genet. 2020;29(5):789-802.
Medication Comparisons
Compare medications used to treat Ciliopathy Ift74 Cn380867. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy