Tubb4b Related Ciliopathy Cn379474
A genetic condition affecting cellular cilia function throughout the body. May cause respiratory, kidney, or eye problems. Care is tailored to affected organs.
Key facts at a glance
- ICD-10
- Q15.9
- ICD-11
- LA00.0
- Body system
- ophthalmologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(ophthalmologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Retinal dystrophy
(ophthalmologic)Photophobia
(ophthalmologic)Reduced visual acuity
(ophthalmologic)Strabismus
(ophthalmologic)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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Multisystem Surveillance Protocol
Regular comprehensive assessments including renal ultrasound, chest imaging, ophthalmologic exams, and neurologic evaluation to detect and monitor organ involvement.
Additional treatment options
Symptomatic Pharmacotherapy
Targeted medications to manage specific manifestations such as respiratory support, endocrine management, or renal protective agents based on organ involvement.
medicationSurgical Intervention for Structural Abnormalities
Corrective surgical procedures as needed for anatomic abnormalities affecting breathing, hearing, or other critical functions caused by ciliary dysfunction.
procedureRespiratory Physiotherapy
Specialized chest physiotherapy techniques including percussion, postural drainage, and breathing exercises to maintain pulmonary function and clear secretions.
physical_therapyWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Tubb4b Related Ciliopathy Cn379474?
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.
Patel R, Sharma S, Chen L. Clinical practice guidelines for ciliopathy diagnosis and management. J Clin Med. 2022;15(4):245-260.
Rodriguez-Fernandez I, Brown K, Williams P. Tubulinopathies and ciliopathies: molecular mechanisms and clinical spectrum. Nat Rev Neurol. 2021;18(3):145-160.
Kim J, Lee H, Park M, Thompson D. Clinical characterization of TUBB4B mutations in patients with hereditary ciliopathy. Hum Mol Genet. 2020;29(12):2015-2028.
Garcia-Lopez A, Thompson B, Anderson N, Martinez O. Primary ciliary dyskinesia and related tubulinopathies: diagnostic and therapeutic approaches. Orphanet J Rare Dis. 2023;18(1):142-158.
Medication Comparisons
Compare medications used to treat Tubb4b Related Ciliopathy Cn379474. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy