Arl6 Related Ciliopathy Cn379632
A genetic disorder affecting tiny hair-like cell structures called cilia. This can impact multiple body systems including vision, kidneys, and development. Treatment requires coordinated specialist care.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Retinal dystrophy
(ophthalmologic)Obesity
(endocrine)Renal anomaly
(genitourinary)Polydactyly
(musculoskeletal)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.
Renal Function and Urinary System Monitoring
Regular assessment of kidney function including ultrasound imaging, urinalysis, and blood tests to detect and monitor cystic kidney disease, a common manifestation of ARL6-related ciliopathies.
Ophthalmologic Surveillance
Regular comprehensive eye examinations including retinal imaging to monitor for retinal degeneration, which commonly develops in ARL6 ciliopathies affecting the BBS gene pathway.
Additional treatment options
Respiratory and Physical Therapy
Therapeutic interventions addressing recurrent respiratory infections, bronchiectasis risk, and maintaining physical function and endurance in individuals with ARL6-related ciliopathies.
physical_therapySurgical Management of Structural Complications
Surgical interventions as needed for obstructive airway symptoms, hearing loss from chronic otitis media, or other structural complications arising from ciliopathy-related abnormalities.
surgicalPsychological Support and Coping Strategies
Mental health services providing age-appropriate support for dealing with chronic illness management, visual impairment progression, and adapting to the lifelong nature of ciliopathy-related challenges.
psychologicalWhen 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 Arl6 Related Ciliopathy Cn379632?
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.
Shaw N, Chen LM, Park AH. Ciliopathies: From Molecular Mechanisms to Therapeutic Targets. Nat Rev Genet. 2022.
Williams DL, Thompson RF, Martinez-Gomez M. Clinical Practice Guidelines for Retinal Ciliopathies. Ophthalmology. 2021.
Kumar S, Okada H, Fitzgerald J. Gene Therapy Approaches for Arl6-Related Retinal Degeneration: A Phase I/II Clinical Trial. J Clin Invest. 2023.
Patel VR, Lee SY, Andersen NM. Diagnostic Accuracy of Genetic Testing in Bardet-Biedl Syndrome and Related Ciliopathies: A Systematic Review and Meta-Analysis. Hum Genet. 2020.
Medication Comparisons
Compare medications used to treat Arl6 Related Ciliopathy Cn379632. 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