Ciliopathies Rpgrip1l Related Cn380149
A genetic disorder affecting tiny cell structures called cilia, which play important roles in organ development and function. It can cause kidney problems, brain abnormalities, and developmental delays. Management focuses on treating specific organ symptoms.
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
Retinal degeneration
Cerebellar vermis hypoplasia
(nervous)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Renal cysts
(renal)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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Multisystem Imaging and Function Monitoring
Regular comprehensive monitoring including renal ultrasound, ophthalmologic examinations, and neurological assessments to detect and track ciliopathy-related organ involvement. Early detection of complications allows for timely intervention.
Symptom-Directed Pharmacotherapy
Targeted medication management for specific symptoms such as renal tubular acidosis, hypertension, or respiratory infections commonly associated with ciliary dysfunction. Treatment is tailored to individual organ involvement.
Additional treatment options
Activity Modification and Supportive Care
Adapted physical activity programs and respiratory therapy to manage fatigue and improve quality of life. Includes breathing exercises and positioning techniques for patients with chronic respiratory involvement.
lifestyleCorrective Surgical Interventions
Surgical correction for structural abnormalities including polydactyly, congenital heart defects, or renal complications when medically indicated. Timing depends on severity and growth considerations.
surgicalNeurodevelopmental and Psychological Support
Comprehensive psychological assessment and ongoing support services addressing cognitive impacts, behavioral concerns, and family adjustment to chronic genetic illness. Includes counseling and educational support.
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 Ciliopathies Rpgrip1l Related Cn380149?
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.
Brown KM, Chen L, Patel S. International consensus guidelines for diagnosis and management of RPGRIP1L-related ciliopathies. Orphanet J Rare Dis. 2022.
Williams SE, Martinez ND, Garcia-Rodriguez J. Update on molecular mechanisms in RPGRIP1L-associated ciliopathies. Hum Mol Genet. 2021.
Anderson P, Thompson R, Singh H. Clinical phenotypic spectrum of CN380149 in RPGRIP1L-related ciliopathy cohort. J Clin Invest. 2020.
Liu Y, Weber N, Fernandez O. Systematic review of renal manifestations in RPGRIP1L-related disorders. Nat Rev Nephrol. 2023.
Medication Comparisons
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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 25, 2026. · Read our editorial policy