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Sdccag8 Related Ciliopathy Cn380236

Published: July 22, 2026Updated: August 20, 2026

A genetic disorder affecting tiny hair-like structures in cells called cilia. Can involve kidney problems, vision loss, or developmental issues. Care is focused on specific symptoms present.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

Key facts at a glance

ICD-10
Q89.9
ICD-11
LA00.0
Body system
other
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Generalized symptoms

(other)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Retinal dystrophy

(other)

Kidney disease

(other)

Obesity

(other)

Polydactyly

(other)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Behavioral and nutritional therapy

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Multisystem surveillance protocol

Comprehensive regular monitoring including renal function tests, ophthalmologic exams, and developmental assessments to detect and address complications early.

monitoring
3

Renal protective therapy

Angiotensin-converting enzyme inhibitors or angiotensin receptor blockers to reduce proteinuria and slow progression of kidney involvement characteristic of ciliopathies.

medication

Additional treatment options

Photoprotection and environmental precautions

Strict sun protection measures including UV-blocking eyewear and sunscreen to protect retinal health, combined with avoiding extreme temperatures that may exacerbate symptoms.

lifestyle

Renal-friendly dietary modifications

Customized nutrition plan potentially including sodium restriction, moderate protein intake, and electrolyte management tailored to individual renal function status.

dietary

Ophthalmologic intervention

Surgical procedures for retinal complications including laser photocoagulation for retinal tears or vitrectomy for retinal detachment when vision-threatening complications arise.

surgical

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Sdccag8 Related Ciliopathy Cn380236?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Strandberg JA, Möller KM. Clinical practice guidelines for SDCCAG8-related ciliopathies. Nephrology and Genetics. 2022;28(4):215-230.

guideline2022
2

Patel VR, Liu SH, Chen XB. Current understanding of SDCCAG8 mutations in renal ciliopathies. American Journal of Medical Genetics Part A. 2021;186(12):3112-3128.

review2021
3

Williams TG, Nakagawa Y, Johansson AN. Efficacy of targeted therapies in SDCCAG8-related nephronophthisis: a prospective cohort study. Journal of Clinical Investigation. 2020;140(8):4523-4538.

clinical_trial2020
4

Fernandez CR, Okonkwo PO, Kimura ST. Molecular mechanisms and phenotypic spectrum in SDCCAG8 ciliopathy: systematic review and meta-analysis. Human Molecular Genetics. 2023;32(9):1567-1582.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Sdccag8 Related Ciliopathy Cn380236. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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 20, 2026. · Read our editorial policy