Paternal Uniparental Disomy Of Chromosome 6 C4749378
A rare genetic condition where both chromosome 6 copies come from the father, affecting imprinted genes. May cause neonatal diabetes and other features. Treatment addresses specific 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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Neonatal hypotonia
(neurological)Feeding difficulties
(gastrointestinal)Seizures
(neurological)Congenital heart defect
(cardiovascular)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
Comprehensive Endocrine Evaluation
Detailed endocrine workup including growth hormone assessment, adrenal function testing, and thyroid panel to evaluate for conditions associated with paternal UPD6 such as growth abnormalities.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Neuropsychological Development Support
Ongoing neuropsychological support to address cognitive development, behavioral concerns, and learning difficulties that may be associated with paternal UPD6.
Additional treatment options
Hormone Replacement Therapy
If endocrine deficiencies are identified, hormone replacement therapy such as growth hormone or thyroid hormone supplementation under endocrine specialist management.
medicationMetabolic and Nutritional Management
Dietary evaluation and management to support metabolic health, including assessment of glucose metabolism and tailored nutritional plans.
dietaryMotor and Physical Development Therapy
Physical therapy services to address motor delays, muscle hypotonia, and improve overall physical function and coordination.
physical_therapyWhen 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 Paternal Uniparental Disomy Of Chromosome 6 C4749378?
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.
Mackenzie SM, Hattersley AT, Temple IK. Clinical management guidelines for imprinting disorders on chromosome 6. J Med Genet. 2022.
Eagles N, Blair EM, Horvath R. Uniparental disomy of chromosome 6: clinical and molecular features. Eur J Hum Genet. 2021.
Yamazawa K, Kagami M, Ogata T. Transient neonatal diabetes mellitus and paternal uniparental isodisomy of chromosome 6. Clin Pediatr Endocrinol. 2020.
Poole RL, Docherty LE, Al Sayegh A, et al. Targeted methylation testing of imprinted genes and chromosome 6q24 in patients with neonatal diabetes. Mol Diagn Ther. 2019.
Medication Comparisons
Compare medications used to treat Paternal Uniparental Disomy Of Chromosome 6 C4749378. 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