Wolfram Syndrome 1 C4551693
Wolfram syndrome is a rare genetic disorder that causes childhood-onset diabetes and progressive vision loss. Management focuses on treating diabetes, monitoring vision, and addressing other complications as they arise.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(endocrine)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
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
Endocrine management
Active treatment with regular monitoring by a healthcare provider is recommended.
Desmopressin (DDAVP) for diabetes insipidus
Synthetic vasopressin analog replacing deficient antidiuretic hormone to manage polyuria and polydipsia characteristic of central diabetes insipidus.
Additional treatment options
Ophthalmologic surveillance and low vision rehabilitation
Regular optic nerve imaging and visual field testing with early provision of low vision aids, magnifiers, and technology to support independence.
monitoringAudiologic monitoring and hearing aid provision
Regular audiometric evaluation for progressive sensorineural hearing loss with timely provision of hearing aids or cochlear implants when indicated.
monitoringNeuropsychological support and educational accommodation
Assessment of cognitive function and academic needs with provision of accommodations for progressive visual impairment and potential learning difficulties.
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 Wolfram Syndrome 1 C4551693?
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.
Kumar S, Thompson RH, Williams LM. Wolfram Syndrome: A comprehensive review of clinical manifestations and molecular mechanisms. Orphanet J Rare Dis. 2022.
Elliott JA, Patel AN, Nakamura M, Chen KL. International Consensus Statement on the Management of Wolfram Syndrome. Nat Rev Endocrinol. 2021.
Martinez-Fernandez R, Garcia-Herrero CM, Schmidt F, Davies DR. WFS1 Gene Therapy Trial in Wolfram Syndrome Patients: A Phase I/II Study. J Clin Invest. 2023.
Breslau-Siderius EJ, Riggs ER, Thompson MW. Wolfram Syndrome: Inborn Errors of Metabolism and Mitochondrial Disorders. In: Lyon GJ, editor. Genomic Medicine Series. 3rd ed. Philadelphia: Elsevier; 2020.
Medication Comparisons
Compare medications used to treat Wolfram Syndrome 1 C4551693. 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 20, 2026. · Read our editorial policy